Breast Cancer malady

Genetic diseases, Rare diseases, Cancer diseases, Reproductive diseases categories

Aliases & Classifications for Breast Cancer

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Aliases & Descriptions for Breast Cancer:

Name: Breast Cancer 46 8 9 64 21 10 44 32 2
Breast Carcinoma 8 21 10 44 61
Malignant Neoplasm of Breast 8 64 21 61
Male Breast Cancer 8 64 42 32
Cancer of Breast 64 21 22
Mammary Cancer 8 64 21
Malignant Neoplasm of Male Breast 8 61
Invasive Ductal Breast Carcinoma 44 61
Breast Cancer, Invasive Ductal 46 30
Breast Cancer, Early-Onset 46 22
Malignant Tumor of Breast 64 21
Breast Cancer, Lobular 46 30
Breast Male Carcinoma 44 22
Breast Cancer, Male 46 42
Mammary Tumor 8 44
Primary Malignant Neoplasm of Breast 61
Breast Cancer, Protection Against 46
Malignant Tumor of the Breast 8
Breast Cancer Susceptibility 46
Breast Lobular Carcinoma 8
Animal Mammary Neoplasms 61
Carcinoma of Male Breast 61
Carcinoma of Breast Nos 8
Neoplasm of Male Breast 8
Breast Cancer, Familial 21
Breast Cancer, Somatic 46
Breast Neoplasms, Male 61
Male Breast Carcinoma 42
Primary Breast Cancer 8
Breast Cancer in Men 42
Carcinoma of Breast 8
Mammary Carcinoma 8
Mammary Neoplasms 61
Breast Tumor 8


Summaries for Breast Cancer

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MedlinePlus:32 Breast cancer affects one in eight women during their lives. breast cancer kills more women in the united states than any cancer except lung cancer. no one knows why some women get breast cancer, but there are a number of risk factors. risks that you cannot change include age - the chance of getting breast cancer rises as a woman gets older genes - there are two genes, brca1 and brca2, that greatly increase the risk. women who have family members with breast or ovarian cancer may wish to be tested. personal factors - beginning periods before age 12 or going through menopause after age 55 other risks include being overweight, using hormone replacement therapy (also called menopausal hormone therapy), taking birth control pills, drinking alcohol, not having children or having your first child after age 35 or having dense breasts. symptoms of breast cancer may include a lump in the breast, a change in size or shape of the breast or discharge from a nipple. breast self-exam and mammography can help find breast cancer early when it is most treatable. treatment may consist of radiation, lumpectomy, mastectomy, chemotherapy and hormone therapy. men can have breast cancer, too, but the number of cases is small. nih: national cancer institute

MalaCards based summary: Breast Cancer, also known as breast carcinoma, is related to lung cancer and familial breast cancer, and has symptoms including autosomal dominant inheritance, heterogeneous and breast carcinoma. An important gene associated with Breast Cancer is BRCA2 (breast cancer 2, early onset). The drugs aminoglutethimide and chlorambucil and the compounds biochanin a and diethylstilbestrol have been mentioned in the context of this disorder. Affiliated tissues include breast, skeletal muscle and bone.

Disease Ontology:8 A thoracic cancer that originates in the mammary gland.

CDC:2 Breast cancer is the most common cancer among American women. Getting mammograms regularly can lower the risk of dying from breast cancer. If you are 50 to 74 years old, be sure to have a screening mammogram every two years. If you are 40 to 49 years old, talk to your doctor about when to start and how often to get a screening mammogram.

Genetics Home Reference:21 Breast cancer is a disease in which certain cells in the breast become abnormal and multiply without control or order to form a tumor. The most common form of breast cancer begins in cells lining the ducts that carry milk to the nipple (ductal cancer). Other forms of breast cancer begin in the glands that produce milk (lobular cancer) or in other parts of the breast.

OMIM:46 Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly... (114480) more...

Novus Biologicals:45 Breast cancer is a malignant tumor that originates from breast tissue cells. Although most breast cancers initiate in the cells that line the breast ducts, some begin in the breast lobules and other tissues. As with all cancers, there is a genetic and environmental component of developing breast cancer. Women with defects in the BRCA1 and BRCA2 genes have up to an 80% chance of getting breast cancer. Research has also found that defects in the ErbB-2 gene lead to increased levels of the protein cyclin D1. Cyclin D1 then activates CDK4, which causes proliferation of cellular division. Blocking CDK4 activity may lead to effective breast cancer treatments.

Wikipedia:64 Breast cancer is cancer that develops from breast tissue. Signs of breast cancer may include a lump in... more...

Related Diseases for Breast Cancer

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Diseases in the Breast Cancer family:

Inflammatory Breast Carcinoma Breast Benign Neoplasm
Breast Carcinoma in Situ Familial Breast Cancer
Chek2-Related Susceptibility to Breast Cancer Bard1-Related Susceptibility to Breast Cancer
Brip1-Related Breast Cancer Hereditary Breast Cancer

Diseases related to Breast Cancer via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 700)
idRelated DiseaseScoreTop Affiliating Genes
1lung cancer32.0AMPH, TFF1, ABCG2
2familial breast cancer11.3
3hereditary breast cancer11.2
4estrogen-receptor positive breast cancer11.2
5sporadic breast cancer11.1
7bilateral breast cancer11.1
8estrogen-receptor negative breast cancer11.0
11insulin-like growth factor i11.0
13breast disease10.9
14ductal carcinoma in situ10.9
20prostate cancer10.7
23colorectal cancer10.6
25breast reconstruction10.6
29breast cyst10.6
30estrogen resistance10.6
31wilms tumor10.6
32progesterone-receptor positive breast cancer10.6
36myeloid leukemia10.5
38triple-receptor negative breast cancer10.5
39inflammatory breast carcinoma10.5
42synchronous bilateral breast carcinoma10.5
46resistance to tamoxifene10.5
49endometrial cancer10.4
50li-fraumeni syndrome10.4

Graphical network of the top 20 diseases related to Breast Cancer:

Diseases related to breast cancer

Symptoms for Breast Cancer

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Symptoms by clinical synopsis from OMIM:


Clinical features from OMIM:


HPO human phenotypes related to Breast Cancer:

id Description Frequency HPO Source Accession
1 autosomal dominant inheritance HP:0000006
2 heterogeneous HP:0001425
3 breast carcinoma HP:0003002

Drugs & Therapeutics for Breast Cancer

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FDA approved drugs:

(show all 25)
id Drug Name Active Ingredient(s)13 Pharmaceutical Company Approval Date
Abraxane13 38 PACLITAXEL Celgene; Approved October 2012;
FDA Label: Abraxane
Malady that Drug Treats: non-small cell lung cancer;
Indications and Usage:13 ABRAXANE is a microtubule inhibitor indicated for the treatment of:; Metastatic breast cancer, after failure of combination chemotherapy; for metastatic disease or relapse within 6 months of adjuvant; chemotherapy. Prior therapy should have included an anthracycline; unless clinically contraindicated. (1.1); Locally advanced or metastatic non-small cell lung cancer (NSCLC),; as first-line treatment in combination with carboplatin, in patients who; are not candidates for curative surgery or radiation therapy. (1.2); Metastatic adenocarcinoma of the pancreas as first-line treatment, in; combination with gemcitabine. (1.3)
DrugBank Targets:11 1. Apoptosis regulator Bcl-2; 2. Tubulin beta-1 chain;; 3. Nuclear receptor subfamily 1 group I member 2; 4. Microtubule-associated protein 4; 5. Microtubule-associated protein 2; 6. Microtubule-associated protein tau
Mechanism of Action:13 
Target: microtubule
Action: inhibitor
FDA: ABRAXANE is a microtubule inhibitor that promotes the assembly of microtubules from tubulin dimers and stabilizes microtubules; by preventing depolymerization. This stability results in the inhibition of the normal dynamic reorganization of the microtubule; network that is essential for vital interphase and mitotic cellular functions. Paclitaxel induces abnormal arrays or  bundles of; microtubules throughout the cell cycle and multiple asters of microtubules during mitosis.
Afinitor13 38 EVEROLIMUS Novartis Approved March 2009
FDA Label: Afinitor
Malady that Drug Treats: renal cell carcinoma/ renal angiomyolipoma associated with tuberous sclerosis complex/ advanced pancreatic neuroendocrine tumor
Indications and Usage:13 AFINITOR is a kinase inhibitor indicated for the treatment of: postmenopausal women with advanced hormone receptor-positive, HER2- negative breast cancer (advanced HR+ BC) in combination with exemestane after failure of treatment with letrozole or anastrozole. (1.1) adults with progressive neuroendocrine tumors of pancreatic origin (PNET) that are unresectable, locally advanced or metastatic. AFINITOR is not indicated for the treatment of patients with functional carcinoid tumors. (1.2) adults with advanced renal cell carcinoma (RCC) after failure of treatment with sunitinib or sorafenib. (1.3) adults with renal angiomyolipoma and tuberous sclerosis complex (TSC), not requiring immediate surgery. The effectiveness of AFINITOR in the treatment of renal angiomyolipoma is based on an analysis of durable objective responses in patients treated for a median of 8.3 months. Further follow-up of patients is required to determine long-term outcomes. (1.4) AFINITOR and AFINITOR DISPERZ are kinase inhibitors indicated for the treatment of: pediatric and adult patients with tuberous sclerosis complex (TSC) who have subependymal giant cell astrocytoma (SEGA) that requires therapeutic intervention but cannot be curatively resected. The effectiveness is based on demonstration of durable objective response, as evidenced by reduction in SEGA tumor volume. Improvement in diseaserelated symptoms and overall survival in patients with SEGA and TSC has not been demonstrated. (1.5)
DrugBank Targets:11 Serine/threonine-protein kinase mTOR
Mechanism of Action:13 
Target: mTOR
Action: inhibitor
FDA: Everolimus is an inhibitor of mammalian target of rapamycin (mTOR), a serine-threonine kinase, downstream of the; PI3K/AKT pathway. The mTOR pathway is dysregulated in several human cancers. Everolimus binds to an intracellular; protein, FKBP-12, resulting in an inhibitory complex formation with mTOR complex 1 (mTORC1) and thus inhibition of; mTOR kinase activity. Everolimus reduced the activity of S6 ribosomal protein kinase (S6K1) and eukaryotic initiation; factor 4E-binding protein (4E-BP1), downstream effectors of mTOR, involved in protein synthesis. S6K1 is a substrate of; mTORC1 and phosphorylates the activation domain 1 of the estrogen receptor which results in ligand-independent; activation of the receptor. In addition, everolimus inhibited the expression of hypoxia-inducible factor (e.g., HIF-1) and; reduced the expression of vascular endothelial growth factor (VEGF). Inhibition of mTOR by everolimus has been shown; to reduce cell proliferation, angiogenesis, and glucose uptake in in vitro and/or in vivo studies.; Constitutive activation of the PI3K/Akt/mTOR pathway can contribute to endocrine resistance in breast cancer. In vitro; studies show that estrogen-dependent and HER2+ breast cancer cells are sensitive to the inhibitory effects of everolimus,; and that combination treatment with everolimus and Akt, HER2, or aromatase inhibitors enhances the anti-tumor activity; of everolimus in a synergistic manner.; Two regulators of mTORC1 signaling are the oncogene suppressors tuberin-sclerosis complexes 1 and 2 (TSC1, TSC2).; Loss or inactivation of either TSC1 or TSC2 leads to activation of downstream signaling. In TSC, a genetic disorder,; inactivating mutations in either the TSC1 or the TSC2 gene lead to hamartoma formation throughout the body.
Aredia13 38 PAMIDRONATE DISODIUM Chiron Approved August 1996
FDA Label: Aredia
Malady that Drug Treats: osteolytic bone metastases of breast cancer
Indications and Usage:13 Hypercalcemia of Malignancy; Aredia, in conjunction with adequate hydration, is indicated for the treatment of moderate or severe; hypercalcemia associated with malignancy, with or without bone metastases. Patients who have either; epidermoid or non-epidermoid tumors respond to treatment with Aredia. Vigorous saline hydration, an; integral part of hypercalcemia therapy, should be initiated promptly and an attempt should be made to; restore the urine output to about 2 L/day throughout treatment. Mild or asymptomatic hypercalcemia may; be treated with conservative measures (i.e., saline hydration, with or without loop diuretics). Patients; should be hydrated adequately throughout the treatment, but overhydration, especially in those patients; who have cardiac failure, must be avoided. Diuretic therapy should not be employed prior to correction of; hypovolemia. The safety and efficacy of Aredia in the treatment of hypercalcemia associated with; hyperparathyroidism or with other non-tumor-related conditions has not been established.; Paget s Disease; Aredia is indicated for the treatment of patients with moderate to severe Paget s disease of bone. The; effectiveness of Aredia was demonstrated primarily in patients with serum alkaline phosphatase e"3 times; the upper limit of normal. Aredia therapy in patients with Paget s disease has been effective in reducing; serum alkaline phosphatase and urinary hydroxyproline levels by e"50% in at least 50% of patients, and by; e"30% in at least 80% of patients. Aredia therapy has also been effective in reducing these biochemical; markers in patients with Paget s disease who failed to respond, or no longer responded to other; treatments.; Osteolytic Bone Metastases of Breast Cancer and Osteolytic Lesions of Multiple; Myeloma; Aredia is indicated, in conjunction with standard antineoplastic therapy, for the treatment of osteolytic; bone metastases of breast cancer and osteolytic lesions of multiple myeloma. The Aredia treatment effect; appeared to be smaller in the study of breast cancer patients receiving hormonal therapy than in the study; of those receiving chemotherapy, however, overall evidence of clinical benefit has been demonstrated; (see CLINICAL PHARMACOLOGY, Osteolytic Bone Metastases of Breast Cancer and Osteolytic; Lesions of Multiple Myeloma, Clinical Trials section).
DrugBank Targets:11 1. Farnesyl pyrophosphate synthase; 2. Hydroxylapatite
Mechanism of Action:13 
Target: bone resorption; FPP synthase
Action: inhibitor
FDA: The principal pharmacologic action of Aredia is inhibition of bone resorption. Although the mechanism of; antiresorptive action is not completely understood, several factors are thought to contribute to this action.; Aredia adsorbs to calcium phosphate (hydroxyapatite) crystals in bone and may directly block dissolution; of this mineral component of bone. In vitro studies also suggest that inhibition of osteoclast activity; contributes to inhibition of bone resorption. In animal studies, at doses recommended for the treatment of; hypercalcemia, Aredia inhibits bone resorption apparently without inhibiting bone formation and; mineralization. Of relevance to the treatment of hypercalcemia of malignancy is the finding that Aredia; inhibits the accelerated bone resorption that results from osteoclast hyperactivity induced by various; tumors in animal studies.
Arimidex13 38 ANASTROZOLE AstraZeneca Approved January 1996
FDA Label: Arimidex
Malady that Drug Treats: post menopausal breast cancer
Indications and Usage:13 ARIMIDEX is an aromatase inhibitor indicated for:; Adjuvant treatment of postmenopausal women with; hormone receptor-positive early breast cancer (1.1); First-line treatment of postmenopausal women with; hormone receptor-positive or hormone receptor unknown; locally advanced or metastatic breast cancer (1.2); Treatment of advanced breast cancer in postmenopausal; women with disease progression following tamoxifen; therapy. Patients with ER-negative disease and patients; who did not respond to previous tamoxifen therapy rarely; responded to ARIMIDEX (1.3)
DrugBank Targets:11 Cytochrome P450 19A1
Mechanism of Action:13 
Target: oral aromatase
Action: inhibitor
FDA: The growth of many cancers of the breast is stimulated or maintained by estrogens.; In postmenopausal women, estrogens are mainly derived from the action of the aromatase; enzyme, which converts adrenal androgens (primarily androstenedione and testosterone) to; estrone and estradiol. The suppression of estrogen biosynthesis in peripheral tissues and in; the cancer tissue itself can therefore be achieved by specifically inhibiting the aromatase; enzyme.; Anastrozole is a selective non-steroidal aromatase inhibitor. It significantly lowers serum; estradiol concentrations and has no detectable effect on formation of adrenal corticosteroids; or aldosterone.
Aromasin Tablets13 38 EXEMESTANE Pharmacia & Upjohn Approved October 21. 1999
FDA Label: Aromasin Tablets
Malady that Drug Treats: advanced breast cancer in postmenopausal women whose disease has progressed following tamoxifen therapy
Indications and Usage:13 AROMASIN is an aromatase inhibitor indicated for: Incidences of cardiac ischemic events (myocardial infarction, angina,; adjuvant treatment of postmenopausal women with estrogen-receptor and myocardial ischemia) were AROMASIN 1.6%, tamoxifen 0.6%.; positive early breast cancer who have received two to three years of Incidence of cardiac failure: AROMASIN 0.4%, tamoxifen 0.3% (6,; tamoxifen and are switched to AROMASIN for completion of a total of 6.1).; five consecutive years of adjuvant hormonal therapy (14.1). Advanced breast cancer: Most common adverse events were mild to; treatment of advanced breast cancer in postmenopausal women whose moderate and included hot flushes (13% vs. 5%), nausea (9% vs. 5%),; disease has progressed following tamoxifen therapy (14.2).
DrugBank Targets:11 Cytochrome P450 19A1
Mechanism of Action:13 
Target: steroidal aromatase
Action: inactivator
FDA: Breast cancer cell growth may be estrogen-dependent. Aromatase is the principal enzyme that converts; androgens to estrogens both in pre- and postmenopausal women. While the main source of estrogen (primarily; estradiol) is the ovary in premenopausal women, the principal source of circulating estrogens in postmenopausal; women is from conversion of adrenal and ovarian androgens (androstenedione and testosterone) to estrogens; (estrone and estradiol) by the aromatase enzyme in peripheral tissues. Estrogen deprivation through aromatase; inhibition is an effective and selective treatment for some postmenopausal patients with hormone-dependent breast; cancer.; Exemestane is an irreversible, steroidal aromatase inactivator, structurally related to the natural substrate; androstenedione. It acts as a false substrate for the aromatase enzyme, and is processed to an intermediate that binds; irreversibly to the active site of the enzyme, causing its inactivation, an effect also known as  suicide inhibition. ; Exemestane significantly lowers circulating estrogen concentrations in postmenopausal women, but has no; detectable effect on adrenal biosynthesis of corticosteroids or aldosterone. Exemestane has no effect on other; enzymes involved in the steroidogenic pathway up to a concentration at least 600 times higher than that inhibiting; the aromatase enzyme.
Ellence13 38 EPIRUBICIN HYDROCHLORIDE Pharmacia & Upjohn Approved September 1999
FDA Label: Ellence
Malady that Drug Treats: Component of adjuvant therapy in patients with evidence of axillary node tumor involvement for primary breast cancer
Indications and Usage:13 ELLENCE Injection is an anthracycline topoisomerase II inhibitor indicated; as a component of adjuvant therapy in patients with evidence of axillary node; tumor involvement following resection of primary breast cancer (1).
DrugBank Targets:11 1. Chromodomain-helicase-DNA-binding protein 1; 2. DNA topoisomerase 2-alpha; 3. DNA
Mechanism of Action:13 
Target: nucleic acid (DNA and RNA) and protein synthesis
Action: inhibitor
FDA: Epirubicin is an anthracycline cytotoxic agent. Although it is known that anthracyclines can interfere with a number of biochemical and; biological functions within eukaryotic cells, the precise mechanisms of epirubicin s cytotoxic and/or antiproliferative properties have not been; completely elucidated.; Epirubicin forms a complex with DNA by intercalation of its planar rings between nucleotide base pairs, with consequent inhibition of nucleic; acid (DNA and RNA) and protein synthesis.; Such intercalation triggers DNA cleavage by topoisomerase II, resulting in cytocidal activity. Epirubicin also inhibits DNA helicase activity,; preventing the enzymatic separation of double-stranded DNA and interfering with replication and transcription. Epirubicin is also involved in; oxidation/reduction reactions by generating cytotoxic free radicals. The antiproliferative and cytotoxic activity of epirubicin is thought to result; from these or other possible mechanisms.; Epirubicin is cytotoxic in vitro to a variety of established murine and human cell lines and primary cultures of human tumors. It is also active; in vivo against a variety of murine tumors and human xenografts in athymic mice, including breast tumors.
Evista13 38 RALOXIFENE HYDROCHLORIDE Eli Lilly Approved September 2007
FDA Label: Evista
Malady that Drug Treats: osteoporosis and reduction of breast cancer risk in postmenopausal women
Indications and Usage:13 EVISTA is an estrogen agonist/antagonist indicated for; Treatment and prevention of osteoporosis in postmenopausal women.; (1.1)
DrugBank Targets:11 1. Estrogen receptor; 2. Estrogen receptor beta
Mechanism of Action:13 
Target: estrogenic pathways
Action: can be an activator or antooagonist
FDA: Decreases in estrogen levels after oophorectomy or menopause lead to increases in bone resorption and; accelerated bone loss. Bone is initially lost rapidly because the compensatory increase in bone formation is; inadequate to offset resorptive losses. In addition to loss of estrogen, this imbalance between resorption and; formation may be due to age-related impairment of osteoblasts or their precursors. In some women, these changes; will eventually lead to decreased bone mass, osteoporosis, and increased risk for fractures, particularly of the spine,; hip, and wrist. Vertebral fractures are the most common type of osteoporotic fracture in postmenopausal women.; The biological actions of raloxifene are largely mediated through binding to estrogen receptors. This binding; results in activation of certain estrogenic pathways and blockade of others. Thus, raloxifene is an estrogen; agonist/antagonist, commonly referred to as a selective estrogen receptor modulator (SERM).; Raloxifene decreases resorption of bone and reduces biochemical markers of bone turnover to the; premenopausal range. These effects on bone are manifested as reductions in the serum and urine levels of bone; turnover markers, decreases in bone resorption based on radiocalcium kinetics studies, increases in bone mineral; density (BMD), and decreases in incidence of fractures.
Faslodex13 38 FULVESTRANT AstraZeneca Approved April 2002
FDA Label: Faslodex
Malady that Drug Treats: Hormone receptor positive metastatic breast cancer
Indications and Usage:13 FASLODEX is an estrogen receptor antagonist indicated for the:; Treatment of hormone receptor positive metastatic breast cancer in; postmenopausal women with disease progression following; antiestrogen therapy.
DrugBank Targets:11 1. Estrogen receptor
Mechanism of Action:13 
Target: estrogen receptors on tumor cells
Action: antagonist
FDA: Many breast cancers have estrogen receptors (ER) and the; growth of these tumors can be stimulated by estrogen.; Fulvestrant is an estrogen receptor antagonist that binds to the; estrogen receptor in a competitive manner with affinity; comparable to that of estradiol and downregulates the ER; protein in human breast cancer cells.; In vitro studies demonstrated that fulvestrant is a reversible; inhibitor of the growth of tamoxifen-resistant, as well as; estrogen-sensitive human breast cancer (MCF-7) cell lines. In; in vivo tumor studies, fulvestrant delayed the establishment of; tumors from xenografts of human breast cancer MCF-7 cells; in nude mice. Fulvestrant inhibited the growth of established; MCF-7 xenografts and of tamoxifen-resistant breast tumor; xenografts.; Fulvestrant showed no agonist-type effects in in vivo; uterotropic assays in immature or ovariectomized mice and; rats. In in vivo studies in immature rats and ovariectomized; monkeys, fulvestrant blocked the uterotrophic action of; estradiol. In postmenopausal women, the absence of changes; in plasma concentrations of FSH and LH in response to; fulvestrant treatment (250 mg monthly) suggests no peripheral; steroidal effects.
Femara13 38 LETROZOLE Novartis Approved January 2001
FDA Label: Femara
Malady that Drug Treats: Hormone receptor positive or hormone receptor unknown locally advanced or metastatic breast cancer
Indications and Usage:13 Femara is an aromatase inhibitor indicated for:; Adjuva nt treatment of postmenopausal women with hormone receptor; positive early brea st cancer (1.1); Extended adjuvant treatment of postmenopausal women with early brea st; cancer who have received prior standard adju vant ta moxifen thera py (1.2); First a nd second-line treatment of postmenopausal women with hormone; receptor positive or unknown advanced breast cancer (1.3)
DrugBank Targets:11 1. Cytochrome P450 19A1
Mechanism of Action:13 
Target: aromatase enzyme system
Action: inhibitor
FDA: The growth of some cancers of the breast is stimulated or maintained by estrogens. Treatment of breast; cancer thought to be hormonally responsive (i.e., estrogen and/or progesterone receptor positive or; receptor unknown) has included a variety of efforts to decrease estrogen levels (ovariectomy,; adrenalectomy, hypophysectomy) or inhibit estrogen effects (antiestrogens and progestational agents).; These interventions lead to decreased tumor mass or delayed progression of tumor growth in some; women.; In postmenopausal women, estrogens are mainly derived from the action of the aromatase enzyme, which; converts adrenal androgens (primarily androstenedione and testosterone) to estrone and estradiol. The; suppression of estrogen biosynthesis in peripheral tissues and in the cancer tissue itself can therefore be; achieved by specifically inhibiting the aromatase enzyme.; Letrozole is a nonsteroidal competitive inhibitor of the aromatase enzyme system; it inhibits the; conversion of androgens to estrogens. In adult nontumor- and tumor-bearing female animals, letrozole is; as effective as ovariectomy in reducing uterine weight, elevating serum LH, and causing the regression of; estrogen-dependent tumors. In contrast to ovariectomy, treatment with letrozole does not lead to an; increase in serum FSH. Letrozole selectively inhibits gonadal steroidogenesis but has no significant effect; on adrenal mineralocorticoid or glucocorticoid synthesis.; Letrozole inhibits the aromatase enzyme by competitively binding to the heme of the cytochrome P450; subunit of the enzyme, resulting in a reduction of estrogen biosynthesis in all tissues. Treatment of women; with letrozole significantly lowers serum estrone, estradiol and estrone sulfate and has not been shown to; significantly affect adrenal corticosteroid synthesis, aldosterone synthesis, or synthesis of thyroid; hormones. ;
Halaven13 38 ERIBULIN MESYLATE Eisai Approved November 2010
FDA Label: Halaven
Malady that Drug Treats: metastatic breast cancer
Indications and Usage:13 HALAVEN is a microtubule inhibitor indicated for the treatment of; patients with metastatic breast cancer who have previously received; at least two chemotherapeutic regimens for the treatment of; metastatic disease. Prior therapy should have included an; anthracycline and a taxane in either the adjuvant or metastatic; setting (1)
DrugBank Targets:11 -
Mechanism of Action:13 
Target: microtubule dynamics
Action: inhibitor
FDA: Eribulin inhibits the growth phase of microtubules without affecting the shortening phase and sequesters; tubulin into nonproductive aggregates. Eribulin exerts its effects via a tubulin-based antimitotic; mechanism leading to G 2/M cell-cycle block, disruption of mitotic spindles, and, ultimately, apoptotic cell; death after prolonged mitotic blockage
Herceptin13 38 TRASTUZUMAB Genentech Approved October 1998
FDA Label: Herceptin
Malady that Drug Treats: Breast cancer/gastric cancer
Indications and Usage:13 Herceptin is a HER2/neu receptor antagonist indicated for:; the treatment of HER2 overexpressing breast cancer (1.1, 1.2).; the treatment of HER2-overexpressing metastatic gastric or; gastroesophageal junction adenocarcinoma (1.3)
DrugBank Targets:11 1. Receptor tyrosine-protein kinase erbB-2; 2. Epidermal growth factor receptor; 3. Complement C1r subcomponent; 4. Complement C1q subcomponent subunit A; 5. Complement C1q subcomponent subunit B; 6. Complement C1q subcomponent subunit C; 7. Complement C1s subcomponent; 8. High affinity immunoglobulin gamma Fc receptor I; 9. Low affinity immunoglobulin gamma Fc region receptor II-a; 10. Low affinity immunoglobulin gamma Fc region receptor II-b; 11. Low affinity immunoglobulin gamma Fc region receptor II-c; 12. Low affinity immunoglobulin gamma Fc region receptor III-B; 13. Low affinity immunoglobulin gamma Fc region receptor III-A
Mechanism of Action:13 
Target: human epidermal growth factor receptor 2 protein (HER2)
Action: binds with strong affinity for immune response
FDA: The HER2 (or c-erbB2) proto-oncogene encodes a transmembrane receptor protein of 185 kDa, which is structurally related to the epidermal growth factor receptor. Herceptin has been shown, in both in vitro assays and in animals, to inhibit the proliferation of human tumor cells that overexpress HER2. Herceptin is a mediator of antibody-dependent cellular cytotoxicity (ADCC). In vitro, Herceptin-mediated ADCC has been shown to be preferentially exerted on HER2 overexpressing cancer cells compared with cancer cells that do not overexpress HER2.;
Ibrance13 38 PALBOCICLIB Pfizer Approved February 2015
FDA Label: Ibrance
Malady that Drug Treats: ER-positive, HER2-negative breast cancer
Indications and Usage:13 IBRANCE is a kinase inhibitor indicated in combination with letrozole for the; treatment of postmenopausal women with estrogen receptor (ER)-positive,; human epidermal growth factor receptor 2 (HER2)-negative advanced breast; cancer as initial endocrine-based therapy for their metastatic disease. This; indication is approved under accelerated approval based on progression-free; survival (PFS). Continued approval for this indication may be contingent; upon verification and description of clinical benefit in a confirmatory trial. (1) ;
DrugBank Targets:11 1. Cyclin-dependent kinase 4; 2. Cyclin-dependent kinase 6
Mechanism of Action:13 
Target: cyclin-dependent kinase (CDK) 4 and 6
Action: inhibitor
FDA: Palbociclib is an inhibitor of cyclin-dependent kinase (CDK) 4 and 6. Cyclin D1 and CDK4/6 are; downstream of signaling pathways which lead to cellular proliferation. In vitro, palbociclib reduced; cellular proliferation of estrogen receptor (ER)-positive breast cancer cell lines by blocking progression; of the cell from G1 into S phase of the cell cycle. Treatment of breast cancer cell lines with the; combination of palbociclib and antiestrogens leads to decreased retinoblastoma protein (Rb); phosphorylation resulting in reduced E2F expression and signaling and increased growth arrest; compared to treatment with each drug alone. In vitro treatment of ER-positive breast cancer cell lines; with the combination of palbociclib and antiestrogens leads to increased cell senescence, which was; sustained for up to 6 days following drug removal. In vivo studies using a patient-derived ER-positive; breast cancer xenograft model demonstrated that the combination of palbociclib and letrozole increased; the inhibition of Rb phosphorylation, downstream signaling and tumor growth compared to each drug; alone. ;
Inform HER-2/neu breast cancer test13 Oncor Approved January 1998
FDA Label: -
Malady that Drug Treats: breast cancer prediction
Indications and Usage:13 -
DrugBank Targets: -
Mechanism of Action:13 
Target: -
Action: -
FDA: -
Ixempra13 38 IXABEPILONE Bristol-Myers Squibb Approved October 2007
FDA Label: Ixempra
Malady that Drug Treats: Breast cancer
Indications and Usage:13 IXEMPRA, a microtubule inhibitor, in combination with capecitabine is; indicated for the treatment of metastatic or locally advanced breast; cancer in patients after failure of an anthracycline and a taxane (1).; IXEMPRA as monotherapy is indicated for the treatment of metastatic; or locally advanced breast cancer in patients after failure of an; anthracycline, a taxane, and capecitabine (1).
DrugBank Targets:11 1. Tubulin beta-3 chain
Mechanism of Action:13 
Target: ²-tubulin subunits on microtubules
Action: suppressor of dynamics
FDA: Ixabepilone is a semi-synthetic analog of epothilone B. Ixabepilone binds directly; to ²-tubulin subunits on microtubules, leading to suppression of microtubule dynamics.; Ixabepilone suppresses the dynamic instability of ±²-II and ±²-III microtubules.; Ixabepilone possesses low in vitro susceptibility to multiple tumor resistance mechanisms including efflux transporters, such as MRP-1 and P-glycoprotein (P-gp). Ixabepilone; blocks cells in the mitotic phase of the cell division cycle, leading to cell death.
Kadcyla13 38 ADO-TRASTUZUMAB EMTANSINE Genentech Approved February 2013
FDA Label: Kadcyla
Malady that Drug Treats: HER2-positive metastatic breast cancer
Indications and Usage:13 KADCYLA is a HER2-targeted antibody and microtubule inhibitor conjugate; indicated, as a single agent, for the treatment of patients with HER2-positive,; metastatic breast cancer who previously received trastuzumab and a taxane,; separately or in combination. Patients should have either:; Received prior therapy for metastatic disease, or; Developed disease recurrence during or within six months of; completing adjuvant therapy. (1)
DrugBank Targets:11 1. Receptor tyrosine-protein kinase erbB-2
Mechanism of Action:13 
Target: microtubule
Action: inhibitor
FDA: Ado-trastuzumab emtansine is a HER2-targeted antibody-drug conjugate. The antibody is the; humanized anti-HER2 IgG1, trastuzumab. The small molecule cytotoxin, DM1, is a microtubule; inhibitor. Upon binding to sub-domain IV of the HER2 receptor, ado-trastuzumab emtansine; undergoes receptor-mediated internalization and subsequent lysosomal degradation, resulting in; intracellular release of DM1-containing cytotoxic catabolites. Binding of DM1 to tubulin; disrupts microtubule networks in the cell, which results in cell cycle arrest and apoptotic cell; death. In addition, in vitro studies have shown that similar to trastuzumab, ado-trastuzumab; emtansine inhibits HER2 receptor signaling, mediates antibody-dependent cell-mediated; cytotoxicity and inhibits shedding of the HER2 extracellular domain in human breast cancer cells; that overexpress HER2.
Lynparza13 38 OLAPARIB AstraZeneca Approved December 2014
FDA Label: Lynparza
Malady that Drug Treats: previously treated BRCA mutated advanced ovarian cancer
Indications and Usage:13 Lynparza is a poly (ADP-ribose) polymerase (PARP) inhibitor indicated as; monotherapy in patients with deleterious or suspected deleterious germline; BRCA mutated (as detected by an FDA-approved test) advanced ovarian; cancer who have been treated with three or more prior lines of chemotherapy.; (1.1); The indication is approved under accelerated approval based on objective; response rate and duration of response. Continued approval for this indication; may be contingent upon verification and description of clinical benefit in; confirmatory trials. (1 1, 14)
DrugBank Targets:11 1. Poly [ADP-ribose] polymerase 1; 2. Poly [ADP-ribose] polymerase 2; 3. Poly [ADP-ribose] polymerase 3
Mechanism of Action:13 
Target: poly (ADP-ribose) polymerase (PARP)
Action: inhibitor
FDA: Lynparza is an inhibitor of poly (ADP-ribose) polymerase (PARP) enzymes, including PARP1, PARP2, and PARP3.; PARP enzymes are involved in normal cellular homeostasis, such as DNA transcription, cell cycle regulation, and DNA; repair. Olaparib has been shown to inhibit growth of select tumor cell lines in vitro and decrease tumor growth in mouse; xenograft models of human cancer both as monotherapy or following platinum-based chemotherapy. Increased; cytotoxicity and anti-tumor activity following treatment with olaparib were noted in cell lines and mouse tumor models; with deficiencies in BRCA. In vitro studies have shown that olaparib-induced cytotoxicity may involve inhibition of; PARP enzymatic activity and increased formation of PARP-DNA complex, resulting in disruption of cellular homeostasis; and cell death.
Miraluma Test13 TECHNETIUM TC-99M SESTAMIBI KIT DuPont Merck Pharmaceutical Company Approved May 1997
FDA Label: Miraluma Test
Malady that Drug Treats: breast imaging
Indications and Usage:13 Breast Imaging: MIRALUMA, Kit for the Preparation of Technetium Tc99m Sestamibi for Injection, is indicated for planar imaging as a second line diagnostic drug after mammography to assist in the evaluation of breast lesions in patients with an abnormal mammogram or a palpable breast mass. MIRALUMA is not indicated for breast cancer screening, to confirm the presence or absence of malignancy, and it is not an alternative to biopsy.
DrugBank Targets: -
Mechanism of Action:13 
Target: malignant cells
Action: accumulates
FDA: The mechanism of Tc99m Sestanibi localization in various types of breast tissue (e.g. beinign, inflammatory, malignant, fiborous) has not been established.
Nolvadex13 38 TAMOXIFEN CITRATE AstraZeneca Approved October 1998
FDA Label: Nolvadex
Malady that Drug Treats: Breast Cancer
Indications and Usage:13 Metastatic Breast Cancer:; NOLVADEX is effective in the treatment of metastatic breast cancer in women and men. In; premenopausal women with metastatic breast cancer, NOLVADEX is an alternative to; oophorectomy or ovarian irradiation. Available evidence indicates that patients whose tumors; are estrogen receptor positive are more likely to benefit from NOLVADEX therapy.; Adjuvant Treatment of Breast Cancer:; NOLVADEX is indicated for the treatment of node-positive breast cancer in women following; total mastectomy or segmental mastectomy, axillary dissection, and breast irradiation. In some; NOLVADEX adjuvant studies, most of the benefit to date has been in the subgroup with four or; more positive axillary nodes.; NOLVADEX is indicated for the treatment of axillary node-negative breast cancer in women; following total mastectomy or segmental mastectomy, axillary dissection, and breast irradiation.; The estrogen and progesterone receptor values may help to predict whether adjuvant; NOLVADEX therapy is likely to be beneficial.; NOLVADEX reduces the occurrence of contralateral breast cancer in patients receiving adjuvant; NOLVADEX therapy for breast cancer.; Ductal Carcinoma in Situ (DCIS):; In women with DCIS, following breast surgery and radiation, NOLVADEX is indicated to; reduce the risk of invasive breast cancer (see BOXED WARNING at the beginning of the; label). The decision regarding therapy with NOLVADEX for the reduction in breast cancer; incidence should be based upon an individual assessment of the benefits and risks of; NOLVADEX therapy.; Current data from clinical trials support five years of adjuvant NOLVADEX therapy for patients; with breast cancer. Reduction in Breast Cancer Incidence in High Risk Women:; NOLVADEX is indicated to reduce the incidence of breast cancer in women at high risk for; breast cancer. This effect was shown in a study of 5 years planned duration with a median; follow-up of 4.2 years. Twenty-five percent of the participants received drug for 5 years. The; longer-term effects are not known. In this study, there was no impact of tamoxifen on overall or; breast cancer-related mortality (see BOXED WARNING at the beginning of the label).; NOLVADEX is indicated only for high-risk women.  High risk is defined as women at least; 35 years of age with a 5-year predicted risk of breast cancer e" 1.67%, as calculated by the Gail; Model.; Examples of combinations of factors predicting a 5-year risk e" 1.67% are:; Age 35 or older and any of the following combination of factors:; One first degree relative with a history of breast cancer, 2 or more benign biopsies, and a; history of a breast biopsy showing atypical hyperplasia; or; At least 2 first degree relatives with a history of breast cancer, and a personal history of at; least one breast biopsy; or; LCIS; ; Age 40 or older and any of the following combination of factors:; One first degree relative with a history of breast cancer, 2 or more benign biopsies, age at first; live birth 25 or older, and age at menarche 11 or younger; or; At least 2 first degree relatives with a history of breast cancer, and age at first live birth 19 or; younger; or; One first degree relative with a history of breast cancer, and a personal history of a breast; biopsy showing atypical hyperplasia.; ; Age 45 or older and any of the following combination of factors:; At least 2 first degree relatives with a history of breast cancer and age at first live birth 24 or; younger; or; One first degree relative with a history of breast cancer with a personal history of a benign; breast biopsy, age at menarche 11 or less and age at first live birth 20 or more.; ; Age 50 or older and any of the following combination of factors:; At least 2 first degree relatives with a history of breast cancer; or; History of one breast biopsy showing atypical hyperplasia, and age at first live birth 30 or; older and age at menarche 11 or less; or; History of at least two breast biopsies with a history of atypical hyperplasia, and age at first; live birth 30 or more.; ; Age 55 or older and any of the following combination of factors:; One first degree relative with a history of breast cancer with a personal history of a benign; breast biopsy, and age at menarche 11 or less; or History of at least 2 breast biopsies with a history of atypical hyperplasia, and age at first live; birth 20 or older.; ; Age 60 or older and:; 5-year predicted risk of breast cancer e" 1.67%, as calculated by the Gail Model.; ; For women whose risk factors are not described in the above examples, the Gail Model is; necessary to estimate absolute breast cancer risk. Health Care Professionals can obtain a Gail; Model Risk Assessment Tool by dialing 1-800-544-2007.; ; There are insufficient data available regarding the effect of NOLVADEX on breast cancer; incidence in women with inherited mutations (BRCA1, BRCA2) to be able to make specific; recommendations on the effectiveness of NOLVADEX in these patients.; ; After an assessment of the risk of developing breast cancer, the decision regarding therapy with; NOLVADEX for the reduction in breast cancer incidence should be based upon an individual; assessment of the benefits and risks of NOLVADEX therapy. In the NSABP P-1 trial,; NOLVADEX treatment lowered the risk of developing breast cancer during the follow-up period; of the trial, but did not eliminate breast cancer risk (See Table 3 in CLINICAL; PHARMACOLOGY).
DrugBank Targets:11 1. Estrogen receptor; 2. Estrogen receptor beta; 3. 3-beta-hydroxysteroid-Delta(8),Delta(7)-isomerase; 4. Protein kinase C
Mechanism of Action:13 
Target: estrogen receptors
Action: competitor with estraidiol
FDA: NOLVADEX is a nonsteroidal agent that has demonstrated potent antiestrogenic properties in; animal test systems. The antiestrogenic effects may be related to its ability to compete with; estrogen for binding sites in target tissues such as breast. Tamoxifen inhibits the induction of rat; mammary carcinoma induced by dimethylbenzanthracene (DMBA) and causes the regression of; already established DMBA-induced tumors. In this rat model, tamoxifen appears to exert its; antitumor effects by binding the estrogen receptors.; In cytosols derived from human breast adenocarcinomas, tamoxifen competes with estradiol for; estrogen receptor protein.
Perjeta13 38 PERTUZUMAB Genentech Approved June 2012
FDA Label: Perjeta
Malady that Drug Treats: HER2+ metastatic breast cancer
Indications and Usage:13 PERJETA is a HER2/neu receptor antagonist indicated for:; Use in combination with trastuzumab and docetaxel for treatment of; patients with HER2-positive metastatic breast cancer (MBC) who have; not received prior anti-HER2 therapy or chemotherapy for metastatic; disease. (1.1); Use in combination with trastuzumab and docetaxel as neoadjuvant; treatment of patients with HER2-positive, locally advanced,; inflammatory, or early stage breast cancer (either greater than 2 cm in; diameter or node positive) as part of a complete treatment regimen for; early breast cancer. This indication is based on demonstration of an; improvement in pathological complete response rate. No data are; available demonstrating improvement in event-free survival or overall; survival. (1.2, 2.1, 14.2); Limitations of Use:; The safety of PERJETA as part of a doxorubicin-containing regimen; has not been established.; The safety of PERJETA administered for greater than 6 cycles for; early breast cancer has not been established.
DrugBank Targets:11 1. Receptor tyrosine-protein kinase erbB-2
Mechanism of Action:13 
Target: mitogen-activated protein (MAP) kinase, phosphoinositide 3-kinase; 445 (PI3K)
Action: inhibitor of ligand-initiated intracellular signaling
FDA: Pertuzumab targets the extracellular dimerization domain (Subdomain II) of the human epidermal growth factor receptor 2 protein (HER2) and, thereby, blocks ligand-dependent heterodimerization of HER2 with other HER family members, including EGFR, HER3, and HER4. As a result, pertuzumab inhibits ligand-initiated intracellular signaling through two major signal pathways, mitogen-activated protein (MAP) kinase, and phosphoinositide 3-kinase (PI3K). Inhibition of these signaling pathways can result in cell growth arrest and apoptosis, respectively. In addition, pertuzumab mediates antibody-dependent cell-mediated cytotoxicity (ADCC). While pertuzumab alone inhibited the proliferation of human tumor cells, the combination of pertuzumab and trastuzumab augmented anti-tumor activity in HER2-overexpressing xenograft models.
Premarin13 ESTROGENS CONJUGATED Wyeth Approved July of 2003
FDA Label: Premarin
Malady that Drug Treats: prevention of postmenopausal osteoporosis and treatment of vasomotor menopause symptoms
Indications and Usage:13 PREMARIN is a mixture of estrogens indicated for:; Treatment of Moderate to Severe Vasomotor Symptoms due to; ; Menopause (1.1); ; Treatment of Moderate to Severe Vulvar and Vaginal Atrophy due to; ; Menopause (1.2); ; Treatment of Hypoestrogenism due to Hypogonadism, Castration or; ; Primary Ovarian Failure (1.3); ; Treatment of Breast Cancer (for Palliation Only) in Appropriately; ; Selected Women and Men with Metastatic Disease (1.4); ; Treatment of Advanced Androgen-Dependent Carcinoma of the; Prostate (for Palliation Only) (1.5); ; Prevention of Postmenopausal Osteoporosis (1.6)
DrugBank Targets:11 1. Estrogen receptor
Mechanism of Action:13 
Target: nuclear receptors in estrogen-responsive tissues
Action: reduce the; elevated levels of gonadotropins
FDA: Endogenous estrogens are largely responsible for the development and maintenance of the; female reproductive system and secondary sexual characteristics. Although circulating; estrogens exist in a dynamic equilibrium of metabolic interconversions, estradiol is the; principal intracellular human estrogen and is substantially more potent than its metabolites,; estrone and estriol, at the receptor level.; The primary source of estrogen in normally cycling adult women is the ovarian follicle, which; secretes 70 to 500 mcg of estradiol daily, depending on the phase of the menstrual cycle.; After menopause, most endogenous estrogen is produced by conversion of androstenedione,; secreted by the adrenal cortex, to estrone in the peripheral tissues. Thus, estrone and the; sulfate-conjugated form, estrone sulfate, are the most abundant circulating estrogens in; postmenopausal women. Estrogens act through binding to nuclear receptors in estrogen-responsive tissues. To date,; two estrogen receptors have been identified. These vary in proportion from tissue to tissue.; Circulating estrogens modulate the pituitary secretion of the gonadotropins, luteinizing; hormone (LH) and FSH, through a negative feedback mechanism. Estrogens act to reduce the; elevated levels of these gonadotropins seen in postmenopausal women.
Taxol13 38 PACLITAXEL Bristol-Myers Squibb Approved August 1997
FDA Label: Taxol
Malady that Drug Treats: Kaposi's Sarcoma
Indications and Usage:13 Paclitaxel Injection, USP is indicated as subsequent therapy for the treatment of advanced carcinoma of; the ovary. As first-line therapy, Paclitaxel Injection, USP is indicated in combination with cisplatin.; Paclitaxel Injection, USP is indicated for the adjuvant treatment of node-positive breast cancer; administered sequentially to standard doxorubicin-containing combination chemotherapy.. In the clinical; trial, there was an overall favorable effect on disease-free and overall survival in the total population of; patients with receptor-positive and receptor-negative tumors, but the benefit has been specifically demonstrated by available data (median follow-up 30 months) only in the patients with estrogen and; progesterone receptor-negative tumors (see CLINICAL STUDIES, Breast Carcinoma).; Paclitaxel Injection, USP is indicated for the treatment of breast cancer after failure of combination; chemotherapy for metastatic disease or relapse within 6 months of adjuvant chemotherapy. Prior therapy; should have included an anthracycline unless clinically contraindicated.; Paclitaxel Injection, USP, in combination with cisplatin, is indicated for the first-line treatment of nonsmall; cell lung cancer in patients who are not candidates for potentially curative surgery and/or radiation; therapy.; Paclitaxel Injection, USP is indicated for the second-line treatment of AIDS-related Kaposi s sarcoma.
DrugBank Targets:11 1. Apoptosis regulator Bcl-2; 2. Tubulin beta-1 chain; 3. Nuclear receptor subfamily 1 group I member 2; 4. Microtubule-associated protein 4; 5. Microtubule-associated protein 2; 6. Microtubule-associated protein tau
Mechanism of Action:13 
Target: microtubules
Action: promoter of assembly & preventor of depolymerization
FDA: Paclitaxel is a novel antimicrotubule agent that promotes the assembly of microtubules from tubulin; dimers and stabilizes microtubules by preventing depolymerization. This stability results in the inhibition; of the normal dynamic reorganization of the microtubule network that is essential for vital interphase and; mitotic cellular functions. In addition, paclitaxel induces abnormal arrays or  bundles of microtubules; throughout the cell cycle and multiple asters of microtubules during mitosis.; Following intravenous administration of paclitaxel, paclitaxel plasma concentrations declined in a; biphasic manner. The initial rapid decline represents distribution to the peripheral compartment and; elimination of the drug. The later phase is due, in part, to a relatively slow efflux of paclitaxel from the; peripheral compartment.; Pharmacokinetic parameters of paclitaxel following 3- and 24-hour infusions of paclitaxel at dose levels; of 135 and 175 mg/m2; were determined in a Phase 3 randomized study in ovarian cancer patients and are; summarized in the following table:
Taxotere13 38 DOCETAXEL Rhone Poulenc Rorer Approved May 1996
FDA Label: Taxotere
Malady that Drug Treats: breast cancer
Indications and Usage:13 TAXOTERE is a microtubule inhibitor indicated for:; Breast Cancer (BC): single agent for locally advanced or metastatic BC; after chemotherapy failure; and with doxorubicin and; cyclophosphamide as adjuvant treatment of operable node-positive BC; (1.1); Non-Small Cell Lung Cancer (NSCLC): single agent for locally; ; advanced or metastatic NSCLC after platinum therapy failure; and; ; with cisplatin for unresectable, locally advanced or metastatic; untreated NSCLC (1.2); ; Hormone Refractory Prostate Cancer (HRPC): with prednisone in; androgen independent (hormone refractory) metastatic prostate cancer; (1.3); Gastric Adenocarcinoma (GC): with cisplatin and fluorouracil for; untreated, advanced GC, including the gastroesophageal junction (1.4); Squamous Cell Carcinoma of the Head and Neck Cancer (SCCHN):; with cisplatin and fluorouracil for induction treatment of locally; advanced SCCHN (1.5)
DrugBank Targets:11 1. Tubulin beta-1 chain; 2. Apoptosis regulator Bcl-2; 3. Microtubule-associated protein 2; 4. Microtubule-associated protein 4; 5. Microtubule-associated protein tau; 6. Nuclear receptor subfamily 1 group I member 2
Mechanism of Action:13 
Target: free tubulin
Action: promoter of assembly
FDA: Docetaxel is an antineoplastic agent that acts by disrupting the microtubular network in cells that is; essential for mitotic and interphase cellular functions. Docetaxel binds to free tubulin and promotes the; assembly of tubulin into stable microtubules while simultaneously inhibiting their disassembly. This; leads to the production of microtubule bundles without normal function and to the stabilization of; microtubules, which results in the inhibition of mitosis in cells. Docetaxel s binding to microtubules; does not alter the number of protofilaments in the bound microtubules, a feature which differs from most; spindle poisons currently in clinical use.
Tykerb13 38 LAPATINIB DITOSYLATE GlaxoSmithKline Approved March 2007
FDA Label: Tykerb
Malady that Drug Treats: breast cancer
Indications and Usage:13 TYKERB, a kinase inhibitor, is indicated in combination with: (1); capecitabine, for the treatment of patients with advanced or metastatic breast; cancer whose tumors overexpress HER2 and who have received prior therapy; including an anthracycline, a taxane, and trastuzumab.; Limitation of Use: Patients should have disease progression on trastuzumab; prior to initiation of treatment with TYKERB in combination with capecitabine.; letrozole for the treatment of postmenopausal women with hormone receptorpositive; metastatic breast cancer that overexpresses the HER2 receptor for; whom hormonal therapy is indicated.; TYKERB in combination with an aromatase inhibitor has not been compared; to a trastuzumab-containing chemotherapy regimen for the treatment of; metastatic breast cancer.
DrugBank Targets:11 1. Epidermal growth factor receptor; 2. Receptor tyrosine-protein kinase erbB-2
Mechanism of Action:13 
Target: Epidermal Growth Factor Receptor (EGFR [ErbB1]), Human Epidermal Receptor Type 2 (HER-2 [ErbB2]) receptor
Action: inhibitor intracellular tyrosine kinase domains
FDA: Lapatinib is a 4-anilinoquinazoline kinase inhibitor of the intracellular tyrosine kinase; domains of both Epidermal Growth Factor Receptor (EGFR [ErbB1]) and of Human Epidermal; Receptor Type 2 (HER2 [ErbB2]) receptors (estimated Ki; app values of 3nM and 13nM,; respectively) with a dissociation half-life of ³ð300 minutes. Lapatinib inhibits ErbB-driven tumor; cell growth in vitro and in various animal models.; An additive effect was demonstrated in an in vitro study when lapatinib and 5-FU (the; active metabolite of capecitabine) were used in combination in the 4 tumor cell lines tested. The; growth inhibitory effects of lapatinib were evaluated in trastuzumab-conditioned cell lines.; Lapatinib retained significant activity against breast cancer cell lines selected for long-term; growth in trastuzumab-containing medium in vitro. These in vitro findings suggest non-crossresistance; between these two agents.; Hormone receptor-positive breast cancer cells (with ER [Estrogen Receptor] and/or PgR; [Progesterone Receptor]) that coexpress the HER2 tend to be resistant to established endocrine; therapies. Similarly, hormone receptor-positive breast cancer cells that initially lack EGFR or; HER2 upregulate these receptor proteins as the tumor becomes resistant to endocrine therapy.
Xeloda13 38 CAPECITABINE Roche Approved April 1998/ Approved May 2001
FDA Label: Xeloda
Malady that Drug Treats: breast cancer/ metastatic colorectal cancer
Indications and Usage:13 XELODA (capecitabine) is a nucleoside metabolic inhibitor with; antineoplastic activity indicated for:; Adjuv ant Colon Cancer (1.1); - Patients with Dukes C colon cancer; Metastatic Colorectal Cancer (1.1); - First-line as monotherapy when treatment with fluoropyrimidine; therapy alone is preferred; Metastatic Breast Cancer (1.2); - In combination with docetaxel after failure of prior anthracyclinecontaining; therapy; - As monotherapy in patients resistant to both paclitaxel and an; anthracycline-containing regimen
DrugBank Targets:11 1. Thymidylate synthase; 2. DNA; 3. RNA
Mechanism of Action:13 
Target: capecitabine
Action: converted to 5-fluorouracil (5-FU) --> cause cell injury
FDA: Enzymes convert capecitabine to 5-fluorouracil (5-FU) in vivo. Both normal and tumor cells; metabolize 5-FU to 5-fluoro-2 -deoxyuridine monophosphate (FdUMP) and 5-fluorouridine; triphosphate (FUTP). These metabolites cause cell injury by two different mechanisms. First,; FdUMP and the folate cofactor, N5-10-methylenetetrahydrofolate, bind to thymidylate synthase; (TS) to form a covalently bound ternary complex. This binding inhibits the formation of; thymidylate from 2 -deoxyuridylate. Thymidylate is the necessary precursor of thymidine; triphosphate, which is essential for the synthesis of DNA, so that a deficiency of this compound; can inhibit cell division. Second, nuclear transcriptional enzymes can mistakenly incorporate; FUTP in place of uridine triphosphate (UTP) during the synthesis of RNA. This metabolic error; can interfere with RNA processing and protein synthesis.
Zoladex13 38 GOSERELIN ACETATE AstraZeneca Approved January 1996
FDA Label: Zoladex
Malady that Drug Treats: prostate cancer
Indications and Usage:13 ZOLADEX is a Gonadotropin Releasing Hormone (GnRH) agonist indicated; for:; Use in combination with flutamide for the management of locally confined; carcinoma of the prostate (1.1); Palliative treatment of advanced carcinoma of the prostate (1.2); The management of endometriosis (1.3); Use as an endometrial-thinning agent prior to endometrial ablation for; dysfunctional uterine bleeding (1.4); Use in the palliative treatment of advanced breast cancer in pre- and; perimenopausal women (1.5)
DrugBank Targets:11 1. Lutropin-choriogonadotropic hormone receptor; 2. Gonadotropin-releasing hormone receptor
Mechanism of Action:13 
Target: pituitary gonadotropin; secretion
Action: inhibitor
FDA: ZOLADEX is a synthetic decapeptide analogue of GnRH. ZOLADEX acts as an inhibitor of pituitary gonadotropin; secretion when administered in the biodegradable formulation. In animal and in vitro studies, administration of goserelin; resulted in the regression or inhibition of growth of the hormonally sensitive dimethylbenzanthracene (DMBA)-induced; rat mammary tumor and Dunning R3327 prostate tumor.

Drug clinical trials:

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Inferred drug relations via UMLS61/NDF-RT40:

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Genetic Tests for Breast Cancer

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Genetic tests related to Breast Cancer:

id Genetic test Affiliating Genes
1 Breast Cancer, Susceptibility to22
2 Breast Cancer, Early-Onset22
3 Neoplasm of Breast22
4 Carcinoma of Male Breast22

Anatomical Context for Breast Cancer

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MalaCards organs/tissues related to Breast Cancer:

Breast, Skeletal muscle, Bone, Lymph node, Endothelial, Lung, Testes, Prostate, Bone marrow, Brain, T cells, Skin, Liver, Thyroid, Myeloid, Colon, Placenta, Testis, Neutrophil, Monocytes, Heart, Pituitary, Ovary, Smooth muscle, B cells, Eye, Spleen, Uterus, Cervix, Kidney, Salivary gland, Adipocyte, Nk cells, Pineal, Pancreas, Small intestine, Whole blood, Thymus, Cortex, Dentritic cells, Hypothalamus, Trachea, Spinal cord, B lymphoblasts

Animal Models for Breast Cancer or affiliated genes

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Publications for Breast Cancer

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Articles related to Breast Cancer:

(show top 50)    (show all 23076)
Modulation of Cyclins, p53 and Mitogen-Activated Protein Kinases Signaling in Breast Cancer Cell Lines by 4-(3,4,5-Trimethoxyphenoxy)benzoic Acid. (24406729)
Prognostic Significance of Ki-67 in Chemotherapy-naive Breast Cancer Patients with 10-year Follow-up. (24403472)
Utility of 3-dimensional echocardiography, global longitudinal strain, and exercise stress echocardiography to detect cardiac dysfunction in breast cancer patients treated with doxorubicin-containing adjuvant therapy. (24390149)
The difference in prognostic factors between early recurrence and late recurrence in estrogen receptor-positive breast cancer: nodal stage differently impacts early and late recurrence. (23717438)
Lysyl oxidase plays a pivotal role in promoting metastasis of breast cancer cells. (24422044)
Validity of the proliferation markers Ki67, TOP2A, and RacGAP1 in molecular subgroups of breast cancer. (23135572)
Brk/PTK6 cooperates with HER2 and Src in regulating breast cancer cell survival and epithelial-to-mesenchymal transition. (23291984)
CA 15-3 is a predictive and prognostic biomarker in patients with metastasized breast cancer undergoing Selective Internal Radiation Therapy. (23260003)
DNA methylation pattern of the SLC25A43 gene in breast cancer. (22430806)
17I^-Estradiol enhances breast cancer cell motility and invasion via extra-nuclear activation of actin-binding protein ezrin. (21818323)
Germline mutations in PALB2 in African-American breast cancer cases. (21113654)
Capsaicin causes cell-cycle arrest and apoptosis in ER-positive and -negative breast cancer cells by modulating the EGFR/HER-2 pathway. (19855437)
GPX1 Pro198Leu polymorphism and breast cancer risk: a meta-analysis. (20306294)
Breast cancer-specific mutations in CK1epsilon inhibit Wnt/beta-catenin and activate the Wnt/Rac1/JNK and NFAT pathways to decrease cell adhesion and promote cell migration. (20507565)
Evaluation of variants in the CHEK2, BRIP1 and PALB2 genes in an Irish breast cancer cohort. (19763819)
Common and discriminative clinicopathological features between breast cancers with pathological complete response or progressive disease in response to neoadjuvant chemotherapy. (19685074)
Breast cancer metastasis suppressor 1 (BRMS1) suppresses metastasis and correlates with improved patient survival in non-small cell lung cancer. (19111386)
Standard psychological consultations and follow up for women at increased risk of hereditary breast cancer considering prophylactic mastectomy. (19338651)
MicroRNA-221/222 negatively regulates estrogen receptor alpha and is associated with tamoxifen resistance in breast cancer. (18790736)
Clinicopathologic and prognostic characteristics of triple-negative breast cancer. (19145094)
Elevated levels of chemokine receptor CXCR4 in HER-2 negative breast cancer specimens predict recurrence. (17574038)
Genetic screening reveals an essential role of p27kip1 in restriction of breast cancer progression. (17804714)
MTA family of transcriptional metaregulators in mammary gland morphogenesis and breast cancer. (17549610)
A common 8q24 variant in prostate and breast cancer from a large nested case-control study. (17409400)
Tumor HGF lacks prognostic significance in Mexican breast cancer patients. (17167976)
Skeletal health in postmenopausal survivors of early breast cancer. (15645435)
Detailed chromosomal characterization of the breast cancer cell line MCF7 with special focus on the expression of the serine-threonine kinase 15. (15944763)
Hypoxia-inducible factor-1alpha is associated with angiogenesis, and expression of bFGF, PDGF-BB, and EGFR in invasive breast cancer. (15656883)
No association between BRCA2 N372H and breast cancer risk. (15894703)
Increased level of phosphorylated akt measured by chemiluminescence-linked immunosorbent assay is a predictor of poor prognosis in primary breast cancer overexpressing ErbB-2. (15987444)
The sesquiterpene lactone parthenolide in combination with docetaxel reduces metastasis and improves survival in a xenograft model of breast cancer. (15956258)
The insulin-like growth factor system in advanced breast cancer. (14687598)
Extracellular calcium downregulates estrogen receptor alpha and increases its transcriptional activity through calcium-sensing receptor in breast cancer cells. (15268900)
Relationships between plasma insulin-like growth factor-I and insulin-like growth factor binding protein-3 and second breast cancer risk in a prevention trial of fenretinide. (14581342)
Prediction of pathogenic mutations in patients with early-onset breast cancer by family history. (12672316)
Autocrine growth factor revisited: PC-cell-derived growth factor (progranulin), a critical player in breast cancer tumorigenesis. (12914763)
Cyproterone, norethindrone, medroxyprogesterone and levonorgestrel are less potent local human growth hormone and insulin-like growth factor I secretion stimulators than progesterone in human breast cancer explants expressing the estrogen receptor. (12396561)
The menopause, hormone replacement therapy and breast cancer. (12650709)
Loss of fragile histidine triad expression and metastasis in breast cancer]. (12452072)
Cytotoxic efficacy of bendamustine in human leukemia and breast cancer cell lines. (12029443)
Can expression of apoptosis genes, bcl-2 and bax, predict survival and responsiveness to chemotherapy in node-negative breast cancer patients? (11469882)
Prognostic value of cytosolic p53 protein in breast cancer. (11553865)
Expression of a novel factor, com1, in early tumor progression of breast cancer. (10815897)
HER2 regulatory control of angiopoietin-2 in breast cancer. (10922985)
Prospective studies of p53 and c-erbB-2 expression in relation to clinicopathological parameters of human ductal breast cancer in the second stage of clinical advancement. (9568187)
Protein tyrosine kinase activity in 350 T1/T2, N0/N1 breast cancer. Preliminary results. (8877013)
GnRH analogs in benign breast disease and breast cancer chemoprevention. A challenge for the year 2000. (8005138)
Breast cancer is associated with loss of the c-kit oncogene product. (1385336)
Factors influencing mutation at the hprt locus in T-lymphocytes: women treated for breast cancer. (1742733)
Endocrine effects of combined somatostatin analog and bromocriptine therapy in women with advanced breast cancer. (2575406)

Variations for Breast Cancer

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UniProtKB/Swiss-Prot genetic disease variations for Breast Cancer:

63 (show all 74)
id Symbol AA change Variation ID SNP ID

Clinvar genetic disease variations for Breast Cancer:

5 (show all 1,466)
id Gene Variation Type Significance SNP ID Assembly Location
1PALB2NM_024675.3(PALB2): c.3549C> G (p.Tyr1183Ter)single nucleotide variantPathogenic, risk factorrs118203998GRCh37Chr 16, 23614792: 23614792
2PALB2NM_024675.3(PALB2): c.2962C> T (p.Gln988Ter)single nucleotide variantPathogenic, risk factorrs118203999GRCh37Chr 16, 23634324: 23634324
3PALB2NM_024675.3(PALB2): c.1027C> T (p.Gln343Ter)single nucleotide variantPathogenicrs180177097GRCh38Chr 16, 23635519: 23635519
4PALB2NM_024675.3(PALB2): c.1050_1051delAAinsTCT (p.Gln350Hisfs)indelPathogenicrs180177098GRCh38Chr 16, 23635495: 23635496
5PALB2NM_024675.3(PALB2): c.1056_1057delGA (p.Lys353Ilefs)deletionPathogenicrs180177099GRCh38Chr 16, 23635489: 23635490
6PALB2NM_024675.3(PALB2): c.1314delA (p.Phe440Leufs)deletionPathogenicrs515726065GRCh38Chr 16, 23635232: 23635232
7PALB2NM_024675.3(PALB2): c.1317delG (p.Phe440Leufs)deletionPathogenicrs515726067GRCh38Chr 16, 23635229: 23635229
8PALB2NM_024675.3(PALB2): c.1479delC (p.Thr494Leufs)deletionPathogenicrs515726071GRCh38Chr 16, 23635067: 23635067
9PALB2NM_024675.3(PALB2): c.1592delT (p.Leu531Cysfs)deletionPathogenic, risk factorrs180177102GRCh38Chr 16, 23634954: 23634954
10PALB2NM_024675.3(PALB2): c.1633G> T (p.Glu545Ter)single nucleotide variantPathogenicrs180177103GRCh38Chr 16, 23634913: 23634913
11PALB2NM_024675.3(PALB2): c.172_175delTTGT (p.Gln60Argfs)deletionPathogenic, risk factorrs180177143GRCh38Chr 16, 23637886: 23637889
12PALB2NM_024675.3(PALB2): c.1947dupA (p.Glu650Argfs)duplicationPathogenicrs515726075GRCh38Chr 16, 23630207: 23630207
13PALB2NM_024675.3(PALB2): c.196C> T (p.Gln66Ter)single nucleotide variantPathogenicrs180177083GRCh38Chr 16, 23637865: 23637865
14PALB2NM_024675.3(PALB2): c.2145_2146delTA (p.Asp715Glufs)deletionPathogenicrs515726081GRCh38Chr 16, 23630008: 23630009
15PALB2NM_024675.3(PALB2): c.229delT (p.Cys77Valfs)deletionPathogenicrs180177084GRCh38Chr 16, 23636317: 23636317
16PALB2NM_024675.3(PALB2): c.2323C> T (p.Gln775Ter)single nucleotide variantPathogenicrs180177111GRCh38Chr 16, 23629831: 23629831
17PALB2NM_024675.3(PALB2): c.2386G> T (p.Gly796Ter)single nucleotide variantPathogenicrs180177112GRCh38Chr 16, 23629768: 23629768
18PALB2NM_024675.3(PALB2): c.2390delA (p.Gln797Hisfs)deletionPathogenicrs515726086GRCh38Chr 16, 23629764: 23629764
19PALB2PALB2: c.2515-1G> Tsingle nucleotide variantLikely pathogenic, Pathogenic, risk factorGRCh38Chr 16, 23629276: 23629276
20PALB2NM_024675.3(PALB2): c.2559C> T (p.Gly853=)single nucleotide variantLikely pathogenicrs180177115GRCh38Chr 16, 23629231: 23629231
21PALB2NM_024675.3(PALB2): c.2587-?_3201+?del (p.Asn863_Met1067del)deletionPathogenic
22PALB2NM_024675.3(PALB2): c.2686dupT (p.Ser896Phefs)duplicationPathogenicrs515726091GRCh38Chr 16, 23626298: 23626298
23PALB2NM_024675.3(PALB2): c.2718G> A (p.Trp906Ter)single nucleotide variantPathogenicrs180177122GRCh38Chr 16, 23626266: 23626266
24PALB2NM_024675.3(PALB2): c.2761C> T (p.Gln921Ter)single nucleotide variantPathogenicrs180177124GRCh38Chr 16, 23624082: 23624082
25PALB2NM_024675.3(PALB2): c.2835-1G> Csingle nucleotide variantLikely pathogenicrs515726099GRCh38Chr 16, 23623131: 23623131
26PALB2NM_024675.3(PALB2): c.2920_2921delAA (p.Lys974Glufs)deletionPathogenicrs180177126GRCh38Chr 16, 23623044: 23623045
27PALB2NM_024675.3(PALB2): c.2982dupT (p.Ala995Cysfs)duplicationPathogenicrs180177127GRCh38Chr 16, 23622983: 23622983
28PALB2NM_024675.3(PALB2): c.3026delC (p.Pro1009Leufs)deletionPathogenicrs180177131GRCh38Chr 16, 23621449: 23621449
29PALB2NM_024675.3(PALB2): c.3048delT (p.Phe1016Leufs)deletionPathogenicrs515726104GRCh38Chr 16, 23621427: 23621427
30PALB2NM_024675.3(PALB2): c.3113G> A (p.Trp1038Ter)single nucleotide variantPathogenicrs180177132GRCh38Chr 16, 23621362: 23621362
31PALB2NM_024675.3(PALB2): c.3116delA (p.Asn1039Ilefs)deletionPathogenic, risk factorrs180177133GRCh38Chr 16, 23614089: 23614089
32PALB2NM_024675.3(PALB2): c.3202-1G> Csingle nucleotide variantLikely pathogenicrs515726111GRCh38Chr 16, 23608013: 23608013
33PALB2PALB2: c.3202-?_*297del (p.Gly1068_Ser1186delins45)deletionPathogenicGRCh38Chr 16, 23603162: 23603162
34PALB2NM_024675.3(PALB2): c.3362delG (p.Gly1121Valfs)deletionPathogenicrs515726117GRCh38Chr 16, 23603658: 23603658
35PALB2NM_024675.3(PALB2): c.3497delG (p.Gly1166Valfs)deletionPathogenicrs180177138GRCh37Chr 16, 23614844: 23614844
36PALB2NM_024675.3(PALB2): c.400G> A (p.Asp134Asn)single nucleotide variantLikely pathogenicrs139555085GRCh38Chr 16, 23636146: 23636146
37PALB2NM_024675.3(PALB2): c.48+1G> Csingle nucleotide variantLikely pathogenicrs515726118GRCh38Chr 16, 23641109: 23641109
38PALB2NM_024675.3(PALB2): c.503C> A (p.Ser168Ter)single nucleotide variantPathogenicrs515726122GRCh38Chr 16, 23636043: 23636043
39PALB2NM_024675.3(PALB2): c.508_509delAG (p.Arg170Ilefs)deletionPathogenicrs515726123GRCh38Chr 16, 23636037: 23636038
40PALB2NM_024675.3(PALB2): c.509_510delGA (p.Arg170Ilefs)deletionPathogenicrs515726124GRCh38Chr 16, 23636036: 23636037
41PALB2NM_024675.3(PALB2): c.697delG (p.Val233Leufs)deletionPathogenicrs180177090GRCh38Chr 16, 23635849: 23635849
42PALB2NM_024675.3(PALB2): c.72delG (p.Arg26Glyfs)deletionPathogenicrs180177142GRCh38Chr 16, 23638106: 23638106
43PALB2NM_024675.3(PALB2): c.751C> T (p.Gln251Ter)single nucleotide variantPathogenicrs180177091GRCh38Chr 16, 23635795: 23635795
44PALB2NM_024675.3(PALB2): c.757_758delCT (p.Leu253Ilefs)deletionPathogenicrs180177092GRCh38Chr 16, 23635788: 23635789
45PALB2NM_024675.3(PALB2): c.758dupT (p.Ser254Ilefs)duplicationPathogenicrs515726126GRCh38Chr 16, 23635788: 23635788
46CHEK2NM_007194.3(CHEK2): c.1100delC (p.Thr367Metfs)deletionPathogenicGRCh37Chr 22, 29091857: 29091857
47PALB2NM_024675.3(PALB2): c.1240C> T (p.Arg414Ter)single nucleotide variantPathogenicrs180177100GRCh38Chr 16, 23635306: 23635306
48RAD51NM_002875.4(RAD51): c.449G> A (p.Arg150Gln)single nucleotide variantPathogenicrs121917739GRCh37Chr 15, 41011016: 41011016
49PALB2NM_024675.3(PALB2): c.2167_2168delAT (p.Met723Valfs)deletionPathogenicGRCh38Chr 16, 23629986: 23629987
50BRIP1NM_032043.2(BRIP1): c.627+1G> Asingle nucleotide variantPathogenicGRCh37Chr 17, 59924461: 59924461
51PIK3CANM_006218.2(PIK3CA): c.3140A> G (p.His1047Arg)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
52PIK3CANM_006218.2(PIK3CA): c.3140A> T (p.His1047Leu)single nucleotide variantPathogenicrs121913279GRCh37Chr 3, 178952085: 178952085
53PIK3CANM_006218.2(PIK3CA): c.1633G> A (p.Glu545Lys)single nucleotide variantPathogenicrs104886003GRCh37Chr 3, 178936091: 178936091
54AKT1NM_001014431.1(AKT1): c.49G> A (p.Glu17Lys)single nucleotide variantPathogenicrs121434592GRCh37Chr 14, 105246551: 105246551
55BRCA1NM_007294.3(BRCA1): c.5205delA (p.Val1736Serfs)deletionPathogenicGRCh37Chr 17, 41209141: 41209141
56MT-CYBm.14766C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14766: 14766
57MT-CYBm.14783T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14783: 14783
58MT-CYBm.15043G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15043: 15043
59MT-CYBm.15287T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15287: 15287
60MT-CYBm.15301G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15301: 15301
61MT-CYBm.15326A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15326: 15326
62MT-CYBNC_012920.1: m.14800C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14800: 14800
63MT-CYBNC_012920.1: m.14891C> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14891: 14891
64MT-CYBNC_012920.1: m.14950C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14950: 14950
65MT-CYBNC_012920.1: m.14968T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14968: 14968
66MT-CYBNC_012920.1: m.14974C> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14974: 14974
67MT-CYBNC_012920.1: m.15001T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15001: 15001
68MT-CYBNC_012920.1: m.15049C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15049: 15049
69MT-CYBNC_012920.1: m.15214T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15214: 15214
70MT-CYBNC_012920.1: m.15226A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15226: 15226
71MT-CYBNC_012920.1: m.15289T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15289: 15289
72MT-CYBNC_012920.1: m.15323G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15323: 15323
73MT-CYBNC_012920.1: m.15346G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15346: 15346
74MT-CYBNC_012920.1: m.15349C> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15349: 15349
75MT-CYBNC_012920.1: m.15349C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15349: 15349
76MT-CYBNC_012920.1: m.15355G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15355: 15355
77MT-CYBNC_012920.1: m.15385C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15385: 15385
78MT-CYBNC_012920.1: m.15458T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15458: 15458
79MT-CYBNC_012920.1: m.15470T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15470: 15470
80MT-CYBNC_012920.1: m.15553G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15553: 15553
81MT-CYBNC_012920.1: m.15637C> Tsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15637: 15637
82MT-CYBNC_012920.1: m.15649A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15649: 15649
83MT-CYBNC_012920.1: m.15682A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15682: 15682
84MT-CYBNC_012920.1: m.15758A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15758: 15758
85MT-CYBNC_012920.1: m.15784T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 15784: 15784
86MT-TTNC_012920.1: m.15927G> Asingle nucleotide variantLikely pathogenicGRCh38Chr MT, 15927: 15927
87MT-TENC_012920.1: m.14732A> Gsingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14732: 14732
88MT-CYBNC_012920.1: m.14905G> Asingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14905: 14905
89MT-CYBNC_012920.1: m.14935T> Csingle nucleotide variantLikely pathogenicGRCh37Chr MT, 14935: 14935
90BRCA1NM_007294.3(BRCA1): c.190T> G (p.Cys64Gly)single nucleotide variantPathogenicrs80357064GRCh37Chr 17, 41258495: 41258495
91BRCA1NM_007294.3(BRCA1): c.68_69delAG (p.Glu23Valfs)deletionPathogenic, risk factorrs80357713GRCh37Chr 17, 41276047: 41276048
92BRCA1NM_007294.3(BRCA1): c.2296_2297delAG (p.Ser766Terfs)deletionPathogenicrs80357780GRCh37Chr 17, 41245251: 41245252
93BRCA1NM_007294.3(BRCA1): c.2681_2682delAA (p.Lys894Thrfs)deletionPathogenicrs80357971GRCh37Chr 17, 41244866: 41244867
94BRCA1NM_007294.3(BRCA1): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs28897686GRCh37Chr 17, 41243800: 41243800
95BRCA1NM_007294.3(BRCA1): c.3756_3759delGTCT (p.Ser1253Argfs)deletionPathogenicrs80357868GRCh37Chr 17, 41243789: 41243792
96BRCA1NM_007294.3(BRCA1): c.5266dupC (p.Gln1756Profs)duplicationPathogenic, risk factorrs80357906GRCh37Chr 17, 41209083: 41209083
97BRCA1NM_007294.3(BRCA1): c.2389G> T (p.Glu797Ter)single nucleotide variantPathogenicrs62625306GRCh37Chr 17, 41245159: 41245159
98BRCA1NM_007294.3(BRCA1): c.843_846delCTCA (p.Ser282Tyrfs)deletionPathogenicrs80357919GRCh37Chr 17, 41246702: 41246705
99BRCA1NM_007294.3(BRCA1): c.1556delA (p.Lys519Argfs)deletionPathogenicrs80357662GRCh37Chr 17, 41245992: 41245992
100BRCA1NM_007294.3(BRCA1): c.211A> G (p.Arg71Gly)single nucleotide variantPathogenicrs80357382GRCh37Chr 17, 41258474: 41258474
101BRCA1NM_007294.3(BRCA1): c.5324T> G (p.Met1775Arg)single nucleotide variantPathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
102BRCA1NM_007294.3(BRCA1): c.5324T> A (p.Met1775Lys)single nucleotide variantLikely pathogenic, Pathogenicrs41293463GRCh37Chr 17, 41203088: 41203088
103ATMATM, IVS61DS, 2-BP INS, +2TAinsertionPathogenic
104ATMNM_000051.3(ATM): c.1066-6T> Gsingle nucleotide variantPathogenic, risk factorrs201686625GRCh38Chr 11, 108248927: 108248927
105BRCA1NM_007294.3(BRCA1): c.1016delA (p.Lys339Argfs)deletionPathogenicrs80357618GRCh37Chr 17, 41246532: 41246532
106BRCA1NM_007294.3(BRCA1): c.1018delG (p.Val340Terfs)deletionPathogenicrs80357774GRCh37Chr 17, 41246530: 41246530
107BRCA1NM_007294.3(BRCA1): c.1121delC (p.Thr374Asnfs)deletionPathogenicrs80357612GRCh37Chr 17, 41246427: 41246427
108BRCA1NM_007294.3(BRCA1): c.116G> A (p.Cys39Tyr)single nucleotide variantPathogenicrs80357498GRCh37Chr 17, 41267761: 41267761
109BRCA1NM_007294.3(BRCA1): c.135-1G> Tsingle nucleotide variantPathogenicrs80358158GRCh37Chr 17, 41258551: 41258551
110BRCA1NM_007294.3(BRCA1): c.1360_1361delAG (p.Ser454Terfs)deletionPathogenicrs80357969GRCh37Chr 17, 41246187: 41246188
111BRCA1NM_007294.3(BRCA1): c.143delT (p.Met48Serfs)deletionPathogenicrs80357637GRCh37Chr 17, 41258542: 41258542
112BRCA1NM_007294.3(BRCA1): c.1444_1447delATTA (p.Ile482Terfs)deletionPathogenicrs80357801GRCh37Chr 17, 41246101: 41246104
113BRCA1NM_007294.3(BRCA1): c.1480C> T (p.Gln494Ter)single nucleotide variantPathogenicrs80357010GRCh37Chr 17, 41246068: 41246068
114BRCA1NM_007294.3(BRCA1): c.1504_1508delTTAAA (p.Leu502Alafs)deletionPathogenicrs80357888GRCh37Chr 17, 41246040: 41246044
115BRCA1NM_007294.3(BRCA1): c.1510delC (p.Arg504Valfs)deletionPathogenicrs80357908GRCh37Chr 17, 41246038: 41246038
116BRCA1NM_007294.3(BRCA1): c.1674delA (p.Gly559Valfs)deletionPathogenicrs80357600GRCh37Chr 17, 41245874: 41245874
117BRCA1NM_007294.3(BRCA1): c.1953_1956delGAAA (p.Lys653Serfs)deletionPathogenicrs80357526GRCh37Chr 17, 41245592: 41245595
118BRCA1NM_007294.3(BRCA1): c.1960A> T (p.Lys654Ter)single nucleotide variantPathogenicrs80357355GRCh37Chr 17, 41245588: 41245588
119BRCA1NM_007294.3(BRCA1): c.1961delA (p.Lys654Serfs)deletionPathogenicrs80357522GRCh37Chr 17, 41245587: 41245587
120BRCA1NM_007294.3(BRCA1): c.2071delA (p.Arg691Aspfs)deletionPathogenicrs80357688GRCh37Chr 17, 41245477: 41245477
121BRCA1NM_007294.3(BRCA1): c.212+1G> Asingle nucleotide variantPathogenicrs80358042GRCh37Chr 17, 41258472: 41258472
122BRCA1NM_007294.3(BRCA1): c.213-11T> Gsingle nucleotide variantPathogenicrs80358061GRCh37Chr 17, 41256984: 41256984
123BRCA1NM_007294.3(BRCA1): c.213-12A> Gsingle nucleotide variantPathogenicrs80358163GRCh37Chr 17, 41256985: 41256985
124BRCA1NM_007294.3(BRCA1): c.2138C> G (p.Ser713Ter)single nucleotide variantPathogenicrs80357233GRCh37Chr 17, 41245410: 41245410
125BRCA1NM_007294.3(BRCA1): c.2158G> T (p.Glu720Ter)single nucleotide variantPathogenicrs80356875GRCh37Chr 17, 41245390: 41245390
126BRCA1NM_007294.3(BRCA1): c.2210_2211delCA (p.Thr737Serfs)deletionPathogenicrs80357654GRCh37Chr 17, 41245337: 41245338
127BRCA1NM_007294.3(BRCA1): c.2269delG (p.Val757Phefs)deletionPathogenicrs80357583GRCh37Chr 17, 41245279: 41245279
128BRCA1NM_007294.3(BRCA1): c.2299delA (p.Ser767Alafs)deletionPathogenicrs80357786GRCh37Chr 17, 41245249: 41245249
129BRCA1NM_007294.3(BRCA1): c.2433delC (p.Lys812Argfs)deletionPathogenicrs80357524GRCh37Chr 17, 41245115: 41245115
130BRCA1NM_007294.3(BRCA1): c.2457delC (p.Asp821Ilefs)deletionPathogenicrs80357669GRCh37Chr 17, 41245091: 41245091
131BRCA1NM_007294.3(BRCA1): c.2475delC (p.Asp825Glufs)deletionPathogenicrs80357970GRCh37Chr 17, 41245073: 41245073
132BRCA1NM_007294.3(BRCA1): c.2515delC (p.His839Thrfs)deletionPathogenicrs80357607GRCh37Chr 17, 41245033: 41245033
133BRCA1NM_007294.3(BRCA1): c.2563C> T (p.Gln855Ter)single nucleotide variantPathogenicrs80357131GRCh37Chr 17, 41244985: 41244985
134BRCA1NM_007294.3(BRCA1): c.2603C> G (p.Ser868Ter)single nucleotide variantPathogenicrs80356925GRCh37Chr 17, 41244945: 41244945
135BRCA1NM_007294.3(BRCA1): c.2635G> T (p.Glu879Ter)single nucleotide variantPathogenicrs80357251GRCh37Chr 17, 41244913: 41244913
136BRCA1NM_007294.3(BRCA1): c.2679_2682delGAAA (p.Lys893Asnfs)deletionPathogenicrs80357596GRCh37Chr 17, 41244866: 41244869
137BRCA1NM_007294.3(BRCA1): c.2710G> T (p.Glu904Ter)single nucleotide variantPathogenicrs80357035GRCh37Chr 17, 41244838: 41244838
138BRCA1NM_007294.3(BRCA1): c.2806_2809delGATA (p.Asp936Serfs)deletionPathogenicrs80357832GRCh37Chr 17, 41244739: 41244742
139BRCA1NM_007294.3(BRCA1): c.2934T> G (p.Tyr978Ter)single nucleotide variantPathogenicrs80357115GRCh37Chr 17, 41244614: 41244614
140BRCA1NM_007294.3(BRCA1): c.302-2A> Csingle nucleotide variantPathogenicrs80358011GRCh37Chr 17, 41256280: 41256280
141BRCA1NM_007294.3(BRCA1): c.302-3C> Gsingle nucleotide variantLikely pathogenic, Pathogenicrs80358051GRCh37Chr 17, 41256281: 41256281
142BRCA1NM_007294.3(BRCA1): c.3112G> T (p.Glu1038Ter)single nucleotide variantPathogenicrs80357161GRCh37Chr 17, 41244436: 41244436
143BRCA1NM_007294.3(BRCA1): c.3228_3229delAG (p.Gly1077Alafs)deletionPathogenicrs80357635GRCh37Chr 17, 41244319: 41244320
144BRCA1NM_007294.3(BRCA1): c.3331_3334delCAAG (p.Gln1111Asnfs)deletionPathogenicrs80357903GRCh37Chr 17, 41244214: 41244217
145BRCA1NM_007294.3(BRCA1): c.3358_3359delGT (p.Val1120Terfs)deletionPathogenicrs80357945GRCh37Chr 17, 41244189: 41244190
146BRCA1NM_007294.3(BRCA1): c.3389C> G (p.Ser1130Ter)single nucleotide variantPathogenicrs80357405GRCh37Chr 17, 41244159: 41244159
147BRCA1NM_007294.3(BRCA1): c.3400G> T (p.Glu1134Ter)single nucleotide variantPathogenicrs80357018GRCh37Chr 17, 41244148: 41244148
148BRCA1NM_007294.3(BRCA1): c.3442delG (p.Glu1148Argfs)deletionPathogenicrs80357808GRCh37Chr 17, 41244106: 41244106
149BRCA1NM_007294.3(BRCA1): c.3612delA (p.Ala1206Profs)deletionPathogenicrs80357980GRCh37Chr 17, 41243936: 41243936
150BRCA1NM_007294.3(BRCA1): c.3627dupA (p.Glu1210Argfs)duplicationPathogenicrs80357729GRCh37Chr 17, 41243920: 41243921
151BRCA1NM_007294.3(BRCA1): c.3648dupA (p.Ser1217Ilefs)duplicationPathogenicrs80357902GRCh37Chr 17, 41243899: 41243900
152BRCA1NM_007294.3(BRCA1): c.3689T> G (p.Leu1230Ter)single nucleotide variantPathogenicrs80357162GRCh37Chr 17, 41243859: 41243859
153BRCA1NM_007294.3(BRCA1): c.3759_3760delTA (p.Lys1254Glufs)deletionPathogenicrs80357520GRCh37Chr 17, 41243788: 41243789
154BRCA1NM_007294.3(BRCA1): c.3764dupA (p.Asn1255Lysfs)duplicationPathogenicrs80357848GRCh37Chr 17, 41243783: 41243784
155BRCA1NM_007294.3(BRCA1): c.3770_3771delAG (p.Glu1257Glyfs)deletionPathogenicrs80357993GRCh37Chr 17, 41243777: 41243778
156BRCA1NM_007294.3(BRCA1): c.3858_3861delTGAG (p.Ser1286Argfs)deletionPathogenicrs80357889GRCh37Chr 17, 41243687: 41243690
157BRCA1NM_007294.3(BRCA1): c.3868A> T (p.Lys1290Ter)single nucleotide variantPathogenicrs80357254GRCh37Chr 17, 41243680: 41243680
158BRCA1NM_007294.3(BRCA1): c.3937C> T (p.Gln1313Ter)single nucleotide variantPathogenicrs80357318GRCh37Chr 17, 41243611: 41243611
159BRCA1NM_007294.3(BRCA1): c.3991C> T (p.Gln1331Ter)single nucleotide variantPathogenicrs397507224GRCh37Chr 17, 41243557: 41243557
160BRCA1NM_007294.3(BRCA1): c.4015G> T (p.Glu1339Ter)single nucleotide variantPathogenicrs80357021GRCh37Chr 17, 41243533: 41243533
161BRCA1NM_007294.3(BRCA1): c.4035delA (p.Glu1346Lysfs)deletionPathogenicrs80357711GRCh37Chr 17, 41243513: 41243513
162BRCA1NM_007294.3(BRCA1): c.4096+1G> Asingle nucleotide variantPathogenicrs80358178GRCh37Chr 17, 41243451: 41243451
163BRCA1NM_007294.3(BRCA1): c.4096+3A> Gsingle nucleotide variantPathogenicrs80358015GRCh37Chr 17, 41243449: 41243449
164BRCA1NM_007294.3(BRCA1): c.4097-1G> Asingle nucleotide variantPathogenicrs80358070GRCh37Chr 17, 41243050: 41243050
165BRCA1NM_007294.3(BRCA1): c.4116_4117delTG (p.Cys1372Terfs)deletionPathogenicrs80357804GRCh37Chr 17, 41243029: 41243030
166BRCA1NM_007294.3(BRCA1): c.4117G> T (p.Glu1373Ter)single nucleotide variantPathogenicrs80357259GRCh37Chr 17, 41243029: 41243029
167BRCA1NM_007294.3(BRCA1): c.4120_4121delAG (p.Ser1374Terfs)deletionPathogenicrs80357787GRCh37Chr 17, 41243025: 41243026
168BRCA1NM_007294.3(BRCA1): c.4148C> G (p.Ser1383Ter)single nucleotide variantPathogenicrs80357071GRCh37Chr 17, 41242998: 41242998
169BRCA1NM_007294.3: c.4185+2_4185+22del21insAindelPathogenicrs273900724GRCh37Chr 17, 41242939: 41242959
170BRCA1NM_007294.3(BRCA1): c.4243delG (p.Glu1415Lysfs)deletionPathogenicrs80357981GRCh37Chr 17, 41234535: 41234535
171BRCA1NM_007294.3(BRCA1): c.4251_4252delGT (p.Leu1418Argfs)deletionPathogenicrs80357977GRCh37Chr 17, 41234526: 41234527
172BRCA1NM_007294.3(BRCA1): c.427G> T (p.Glu143Ter)single nucleotide variantPathogenicrs80356991GRCh37Chr 17, 41256153: 41256153
173BRCA1NM_007294.3(BRCA1): c.4357+1G> Asingle nucleotide variantPathogenicrs80358027GRCh37Chr 17, 41234420: 41234420
174BRCA1NM_007294.3(BRCA1): c.4391_4393delCTAinsTT (p.Pro1464Leufs)indelPathogenicrs273900730GRCh37Chr 17, 41228596: 41228598
175BRCA1NM_007294.3(BRCA1): c.4391delC (p.Pro1464Leufs)deletionPathogenicrs80357916GRCh37Chr 17, 41228598: 41228598
176BRCA1NM_007294.3(BRCA1): c.4393delA (p.Ile1465Terfs)deletionPathogenicrs397507230GRCh37Chr 17, 41228596: 41228596
177BRCA1NM_007294.3(BRCA1): c.4482_4483delAA (p.Arg1495Valfs)deletionPathogenicrs80357854GRCh37Chr 17, 41228506: 41228507
178BRCA1NM_007294.3(BRCA1): c.4484+1G> Asingle nucleotide variantPathogenicrs80358063GRCh37Chr 17, 41228504: 41228504
179BRCA1NM_007294.3(BRCA1): c.4484G> A (p.Arg1495Lys)single nucleotide variantPathogenicrs80357389GRCh37Chr 17, 41228505: 41228505
180BRCA1NM_007294.3(BRCA1): c.4675G> A (p.Glu1559Lys)single nucleotide variantPathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
181BRCA1NM_007294.3(BRCA1): c.4675G> C (p.Glu1559Gln)single nucleotide variantLikely pathogenic, Pathogenicrs80356988GRCh37Chr 17, 41226348: 41226348
182BRCA1NM_007294.3(BRCA1): c.470_471delCT (p.Ser157Terfs)deletionPathogenicrs80357887GRCh37Chr 17, 41251868: 41251869
183BRCA1NM_007294.3(BRCA1): c.4749_4750delAG (p.Arg1583Serfs)deletionPathogenicrs80357641GRCh37Chr 17, 41223181: 41223182
184BRCA1NM_007294.3(BRCA1): c.4868C> G (p.Ala1623Gly)single nucleotide variantLikely pathogenic, Pathogenicrs80356862GRCh37Chr 17, 41223063: 41223063
185BRCA1NM_007294.3(BRCA1): c.4986+1G> Tsingle nucleotide variantPathogenicrs80358162GRCh37Chr 17, 41222944: 41222944
186BRCA1NM_007294.3(BRCA1): c.5030_5033delCTAA (p.Thr1677Ilefs)deletionPathogenicrs80357862GRCh37Chr 17, 41219666: 41219669
187BRCA1NM_007294.3(BRCA1): c.5035_5039delCTAAT (p.Leu1679Tyrfs)deletionPathogenicrs80357623GRCh37Chr 17, 41219660: 41219664
188BRCA1NM_007294.3(BRCA1): c.5066T> G (p.Met1689Arg)single nucleotide variantPathogenicrs80357061GRCh37Chr 17, 41219633: 41219633
189BRCA1NM_007294.3(BRCA1): c.5068A> T (p.Lys1690Ter)single nucleotide variantPathogenicrs397507239GRCh37Chr 17, 41219631: 41219631
190BRCA1NM_007294.3(BRCA1): c.5074+1G> Asingle nucleotide variantPathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
191BRCA1NM_007294.3(BRCA1): c.5074+1G> Tsingle nucleotide variantLikely pathogenic, Pathogenicrs80358053GRCh37Chr 17, 41219624: 41219624
192BRCA1NM_007294.3(BRCA1): c.5074G> A (p.Asp1692Asn)single nucleotide variantLikely pathogenic, Pathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
193BRCA1NM_007294.3(BRCA1): c.5074G> C (p.Asp1692His)single nucleotide variantPathogenicrs80187739GRCh37Chr 17, 41219625: 41219625
194BRCA1NM_007294.3(BRCA1): c.5096G> A (p.Arg1699Gln)single nucleotide variantLikely pathogenic, Pathogenicrs41293459GRCh37Chr 17, 41215947: 41215947
195BRCA1NM_007294.3(BRCA1): c.5117G> A (p.Gly1706Glu)single nucleotide variantLikely pathogenicrs80356860GRCh37Chr 17, 41215926: 41215926
196BRCA1NM_007294.3(BRCA1): c.5152+1G> Csingle nucleotide variantPathogenicrs80358094GRCh37Chr 17, 41215890: 41215890
197BRCA1NM_007294.3(BRCA1): c.5153-1G> Csingle nucleotide variantLikely pathogenic, Pathogenicrs80358137GRCh37Chr 17, 41215391: 41215391
198BRCA1NM_007294.3(BRCA1): c.5177_5180delGAAA (p.Arg1726Lysfs)deletionPathogenicrs80357975GRCh37Chr 17, 41215363: 41215366
199BRCA1NM_007294.3(BRCA1): c.5179A> T (p.Lys1727Ter)single nucleotide variantPathogenicrs80357347GRCh37Chr 17, 41215364: 41215364
200BRCA1NM_007294.3(BRCA1): c.5194-2A> Gsingle nucleotide variantPathogenicrs80358069GRCh37Chr 17, 41209154: 41209154
201BRCA1NM_007294.3(BRCA1): c.5207T> C (p.Val1736Ala)single nucleotide variantPathogenicrs45553935GRCh37Chr 17, 41209139: 41209139
202BRCA1NM_007294.3(BRCA1): c.5277+1G> Asingle nucleotide variantPathogenicrs80358150GRCh37Chr 17, 41209068: 41209068
203BRCA1NM_007294.3(BRCA1): c.5297T> G (p.Ile1766Ser)single nucleotide variantPathogenicrs80357463GRCh37Chr 17, 41203115: 41203115
204BRCA1NM_007294.3(BRCA1): c.5346G> A (p.Trp1782Ter)single nucleotide variantPathogenicrs80357284GRCh37Chr 17, 41201198: 41201198
205BRCA1NM_007294.3(BRCA1): c.5363G> T (p.Gly1788Val)single nucleotide variantPathogenicrs80357069GRCh37Chr 17, 41201181: 41201181
206BRCA1NM_007294.3(BRCA1): c.5387C> A (p.Ser1796Ter)single nucleotide variantPathogenicrs80357055GRCh37Chr 17, 41201157: 41201157
207BRCA1NM_007294.3(BRCA1): c.53T> C (p.Met18Thr)single nucleotide variantLikely pathogenicrs80356929GRCh37Chr 17, 41276061: 41276061
208BRCA1NM_007294.3(BRCA1): c.5417delC (p.Pro1806Glnfs)deletionPathogenicrs80357558GRCh37Chr 17, 41199710: 41199710
209BRCA1NM_007294.3(BRCA1): c.5453A> G (p.Asp1818Gly)single nucleotide variantPathogenicrs80357477GRCh37Chr 17, 41199674: 41199674
210BRCA1NM_007294.3(BRCA1): c.5467+1G> Asingle nucleotide variantPathogenicrs80358145GRCh37Chr 17, 41199659: 41199659
211BRCA1NM_007294.3(BRCA1): c.547+2T> Asingle nucleotide variantPathogenicrs80358047GRCh37Chr 17, 41251790: 41251790
212BRCA1NM_007294.3(BRCA1): c.5509T> C (p.Trp1837Arg)single nucleotide variantLikely pathogenicrs80356959GRCh37Chr 17, 41197778: 41197778
213BRCA1NM_007294.3(BRCA1): c.66dupA (p.Glu23Argfs)duplicationPathogenicrs80357783GRCh37Chr 17, 41276047: 41276048
214BRCA1NM_007294.3(BRCA1): c.697_698delGT (p.Val233Asnfs)deletionPathogenicrs80357747GRCh37Chr 17, 41246850: 41246851
215BRCA1NM_007294.3(BRCA1): c.783T> G (p.Tyr261Ter)single nucleotide variantPathogenicrs80357321GRCh37Chr 17, 41246765: 41246765
216BRCA1NM_007294.3(BRCA1): c.798_799delTT (p.Ser267Lysfs)deletionPathogenicrs80357724GRCh37Chr 17, 41246749: 41246750
217BRCA1NM_007294.3(BRCA1): c.85G> T (p.Glu29Ter)single nucleotide variantPathogenicrs80357443GRCh37Chr 17, 41267792: 41267792
218BRCA1NM_007294.3(BRCA1): c.929delA (p.Gln310Argfs)deletionPathogenicrs80357844GRCh37Chr 17, 41246619: 41246619
219BRCA1NM_007294.3(BRCA1): c.952_1015del64 (p.His318Argfs)deletionPathogenicrs80359872GRCh37Chr 17, 41246533: 41246596
220BRCA2NM_000059.3(BRCA2): c.1029delA (p.Lys343Asnfs)deletionPathogenicrs80359260GRCh37Chr 13, 32906644: 32906644
221BRCA2NM_000059.3(BRCA2): c.1238delT (p.Leu413Hisfs)deletionPathogenicrs80359271GRCh37Chr 13, 32906853: 32906853
222BRCA2NM_000059.3(BRCA2): c.1257delT (p.Cys419Trpfs)deletionPathogenicrs80359272GRCh37Chr 13, 32906872: 32906872
223BRCA2NM_000059.3(BRCA2): c.1265delA (p.Asn422Ilefs)deletionPathogenicrs80359273GRCh37Chr 13, 32906880: 32906880
224BRCA2NM_000059.3(BRCA2): c.1296_1297delGA (p.Asn433Glnfs)deletionPathogenicrs80359276GRCh37Chr 13, 32906911: 32906912
225BRCA2NM_000059.3(BRCA2): c.1310_1313delAAGA (p.Lys437Ilefs)deletionPathogenicrs80359280GRCh37Chr 13, 32906925: 32906928
226BRCA2NM_000059.3(BRCA2): c.1593dupA (p.Glu532Argfs)duplicationPathogenicrs397507272GRCh37Chr 13, 32907208: 32907209
227BRCA2NM_000059.3(BRCA2): c.1755_1759delGAAAA (p.Lys585Asnfs)deletionPathogenicrs80359302GRCh37Chr 13, 32907370: 32907374
228BRCA2NM_000059.3(BRCA2): c.1796_1800delCTTAT (p.Ser599Terfs)deletionPathogenicrs276174814GRCh37Chr 13, 32907411: 32907415
229BRCA2NM_000059.3(BRCA2): c.1813delA (p.Ile605Tyrfs)deletionPathogenicrs80359309GRCh37Chr 13, 32907428: 32907428
230BRCA2NM_000059.3(BRCA2): c.1832C> A (p.Ser611Ter)single nucleotide variantPathogenicrs80358474GRCh37Chr 13, 32907447: 32907447
231BRCA2NM_000059.3(BRCA2): c.1929delG (p.Arg645Glufs)deletionPathogenicrs80359316GRCh37Chr 13, 32910421: 32910421
232BRCA2NM_000059.3(BRCA2): c.2036delA (p.Asn679Ilefs)deletionPathogenicrs80359318GRCh37Chr 13, 32910528: 32910528
233BRCA2NM_000059.3(BRCA2): c.2092delC (p.Leu698Tyrfs)deletionPathogenicrs80359322GRCh37Chr 13, 32910584: 32910584
234BRCA2NM_000059.3(BRCA2): c.2231C> G (p.Ser744Ter)single nucleotide variantPathogenicrs397507282GRCh37Chr 13, 32910723: 32910723
235BRCA2NM_000059.3(BRCA2): c.2409T> G (p.Tyr803Ter)single nucleotide variantPathogenicrs80358504GRCh37Chr 13, 32910901: 32910901
236BRCA2NM_000059.3(BRCA2): c.2588dupA (p.Asn863Lysfs)duplicationPathogenicrs80359338GRCh37Chr 13, 32911080: 32911080
237BRCA2NM_000059.3(BRCA2): c.274C> T (p.Gln92Ter)single nucleotide variantPathogenicrs80358529GRCh37Chr 13, 32893420: 32893420
238BRCA2NM_000059.3(BRCA2): c.2818C> T (p.Gln940Ter)single nucleotide variantPathogenicrs80358532GRCh37Chr 13, 32911310: 32911310
239BRCA2NM_000059.3(BRCA2): c.2979G> A (p.Trp993Ter)single nucleotide variantPathogenicrs80358544GRCh37Chr 13, 32911471: 32911471
240BRCA2NM_000059.3(BRCA2): c.3158T> G (p.Leu1053Ter)single nucleotide variantPathogenicrs41293477GRCh37Chr 13, 32911650: 32911650
241BRCA2NM_000059.3(BRCA2): c.3160_3163delGATA (p.Asp1054Ilefs)deletionPathogenicrs80359371GRCh37Chr 13, 32911652: 32911655
242BRCA2NM_000059.3(BRCA2): c.3170_3174delAGAAA (p.Lys1057Thrfs)deletionPathogenicrs80359373GRCh37Chr 13, 32911662: 32911666
243BRCA2NM_000059.3(BRCA2): c.3264dupT (p.Gln1089Serfs)duplicationPathogenicrs80359380GRCh37Chr 13, 32911756: 32911756
244BRCA2NM_000059.3(BRCA2): c.3545_3546delTT (p.Phe1182Terfs)deletionLikely pathogenic, Pathogenicrs80359388GRCh37Chr 13, 32912037: 32912038
245BRCA2NM_000059.3(BRCA2): c.3689delC (p.Ser1230Leufs)deletionPathogenicrs80359398GRCh37Chr 13, 32912181: 32912181
246BRCA2NM_000059.3(BRCA2): c.3744_3747delTGAG (p.Ser1248Argfs)deletionPathogenicrs80359403GRCh37Chr 13, 32912236: 32912239
247BRCA2NM_000059.3(BRCA2): c.3865_3868delAAAT (p.Lys1289Alafs)deletionPathogenicrs80359412GRCh37Chr 13, 32912357: 32912360
248BRCA2NM_000059.3(BRCA2): c.3922G> T (p.Glu1308Ter)single nucleotide variantPathogenicrs80358638GRCh37Chr 13, 32912414: 32912414
249BRCA2NM_000059.3(BRCA2): c.396T> A (p.Cys132Ter)single nucleotide variantPathogenicrs397507320GRCh37Chr 13, 32899292: 32899292
250BRCA2NM_000059.3(BRCA2): c.3delG (p.Met1Ilefs)deletionPathogenicrs80359418GRCh37Chr 13, 32890600: 32890600
251BRCA2NM_000059.3(BRCA2): c.407delA (p.Asn136Ilefs)deletionPathogenicrs80359425GRCh37Chr 13, 32899303: 32899303
252BRCA2NM_000059.3(BRCA2): c.4092_4093delAT (p.Ile1364Metfs)deletionPathogenicrs80359426GRCh37Chr 13, 32912584: 32912585
253BRCA2NM_000059.3(BRCA2): c.4163_4164delCTinsA (p.Thr1388Asnfs)indelPathogenicrs276174843GRCh37Chr 13, 32912655: 32912656
254BRCA2NM_000059.3(BRCA2): c.4222C> T (p.Gln1408Ter)single nucleotide variantPathogenicrs80358663GRCh37Chr 13, 32912714: 32912714
255BRCA2NM_000059.3(BRCA2): c.4243G> T (p.Glu1415Ter)single nucleotide variantPathogenicrs397507327GRCh37Chr 13, 32912735: 32912735
256BRCA2NM_000059.3(BRCA2): c.4276dupA (p.Thr1426Asnfs)duplicationPathogenicrs80359438GRCh37Chr 13, 32912768: 32912768
257BRCA2NM_000059.3(BRCA2): c.4414_4415delAA (p.Lys1472Glufs)deletionPathogenicrs397507332GRCh37Chr 13, 32912906: 32912907
258BRCA2NM_000059.3(BRCA2): c.4449delA (p.Asp1484Thrfs)deletionPathogenicrs80359448GRCh37Chr 13, 32912941: 32912941
259BRCA2NM_000059.3(BRCA2): c.4631dupA (p.Asn1544Lysfs)duplicationPathogenicrs80359460GRCh37Chr 13, 32913123: 32913123
260BRCA2NM_000059.3(BRCA2): c.475+4delTdeletionLikely pathogenicrs276174848GRCh37Chr 13, 32900291: 32900291
261BRCA2NM_000059.3(BRCA2): c.476-1G> Asingle nucleotide variantPathogenicrs397507340GRCh37Chr 13, 32900378: 32900378
262BRCA2NM_000059.3(BRCA2): c.476-2A> Gsingle nucleotide variantPathogenicrs81002853GRCh37Chr 13, 32900377: 32900377
263BRCA2NM_000059.3(BRCA2): c.4936_4939delGAAA (p.Glu1646Glnfs)deletionPathogenicrs80359473GRCh37Chr 13, 32913428: 32913431
264BRCA2NM_000059.3(BRCA2): c.4965C> G (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
265BRCA2NM_000059.3(BRCA2): c.5035delA (p.Thr1679Leufs)deletionPathogenicrs80359477GRCh37Chr 13, 32913527: 32913527
266BRCA2NM_000059.3(BRCA2): c.5042_5043delTG (p.Val1681Glufs)deletionPathogenicrs80359478GRCh37Chr 13, 32913534: 32913535
267BRCA2NM_000059.3(BRCA2): c.518delG (p.Gly173Valfs)deletionPathogenicrs80359492GRCh37Chr 13, 32900637: 32900637
268BRCA2NM_000059.3(BRCA2): c.5213_5216delCTTA (p.Thr1738Ilefs)deletionPathogenicrs80359493GRCh37Chr 13, 32913705: 32913708
269BRCA2NM_000059.3(BRCA2): c.5238dupT (p.Asn1747Terfs)duplicationPathogenicrs80359499GRCh37Chr 13, 32913730: 32913730
270BRCA2NM_000059.3(BRCA2): c.5266_5269delGTAT (p.Val1756Ilefs)deletionPathogenicrs80359501GRCh37Chr 13, 32913758: 32913761
271BRCA2NM_000059.3(BRCA2): c.5290_5291delTC (p.Ser1764Lysfs)deletionPathogenicrs80359503GRCh37Chr 13, 32913782: 32913783
272BRCA2NM_000059.3(BRCA2): c.5303_5304delTT (p.Leu1768Argfs)deletionPathogenicrs80359505GRCh37Chr 13, 32913795: 32913796
273BRCA2NM_000059.3(BRCA2): c.5350_5351delAA (p.Asn1784Hisfs)deletionPathogenicrs80359507GRCh37Chr 13, 32913842: 32913843
274BRCA2NM_000059.3(BRCA2): c.5351dupA (p.Asn1784Lysfs)duplicationPathogenicrs80359508GRCh37Chr 13, 32913843: 32913843
275BRCA2NM_000059.3(BRCA2): c.5351delA (p.Asn1784Thrfs)deletionPathogenicrs80359509GRCh37Chr 13, 32913843: 32913843
276BRCA2NM_000059.3(BRCA2): c.5410_5411delGT (p.Val1804Lysfs)deletionPathogenicrs80359512GRCh37Chr 13, 32913902: 32913903
277BRCA2NM_000059.3(BRCA2): c.5471dupA (p.Asn1824Lysfs)duplicationPathogenicrs80359515GRCh37Chr 13, 32913963: 32913963
278BRCA2NM_000059.3(BRCA2): c.5595_5596delAT (p.Phe1866Tyrfs)deletionPathogenicrs80359524GRCh37Chr 13, 32914087: 32914088
279BRCA2NM_000059.3(BRCA2): c.5614A> T (p.Lys1872Ter)single nucleotide variantPathogenicrs80358783GRCh37Chr 13, 32914106: 32914106
280BRCA2NM_000059.3(BRCA2): c.5621_5624delTTAA (p.Ile1874Argfs)deletionPathogenicrs80359526GRCh37Chr 13, 32914113: 32914116
281BRCA2NM_000059.3(BRCA2): c.5645C> A (p.Ser1882Ter)single nucleotide variantPathogenicrs80358785GRCh37Chr 13, 32914137: 32914137
282BRCA2NM_000059.3(BRCA2): c.5681dupA (p.Tyr1894Terfs)duplicationPathogenicrs80359527GRCh37Chr 13, 32914173: 32914173
283BRCA2NM_000059.3(BRCA2): c.574_575delAT (p.Met192Valfs)deletionPathogenicrs80359533GRCh37Chr 13, 32900693: 32900694
284BRCA2NM_000059.3(BRCA2): c.5828delC (p.Ser1943Leufs)deletionPathogenicrs80359541GRCh37Chr 13, 32914320: 32914320
285BRCA2NM_000059.3(BRCA2): c.582G> A (p.Trp194Ter)single nucleotide variantPathogenicrs80358810GRCh37Chr 13, 32900701: 32900701
286BRCA2NM_000059.3(BRCA2): c.5851_5854delAGTT (p.Ser1951Trpfs)deletionPathogenicrs80359544GRCh37Chr 13, 32914343: 32914346
287BRCA2NM_000059.3(BRCA2): c.5909C> A (p.Ser1970Ter)single nucleotide variantPathogenicrs80358824GRCh37Chr 13, 32914401: 32914401
288BRCA2NM_000059.3(BRCA2): c.5980C> T (p.Gln1994Ter)single nucleotide variantPathogenicrs80358831GRCh37Chr 13, 32914472: 32914472
289BRCA2NM_000059.3(BRCA2): c.6024dupG (p.Gln2009Alafs)duplicationPathogenicrs80359554GRCh37Chr 13, 32914516: 32914516
290BRCA2NM_000059.3(BRCA2): c.6037A> T (p.Lys2013Ter)single nucleotide variantPathogenicrs80358840GRCh37Chr 13, 32914529: 32914529
291BRCA2NM_000059.3(BRCA2): c.6206T> G (p.Leu2069Ter)single nucleotide variantPathogenicrs80358859GRCh37Chr 13, 32914698: 32914698
292BRCA2NM_000059.3(BRCA2): c.6267_6269delGCAinsC (p.Glu2089Aspfs)indelPathogenicrs276174868GRCh37Chr 13, 32914759: 32914761
293BRCA2NM_000059.3(BRCA2): c.631G> C (p.Val211Leu)single nucleotide variantPathogenicrs80358871GRCh37Chr 13, 32900750: 32900750
294BRCA2NM_000059.3(BRCA2): c.6373dupA (p.Thr2125Asnfs)duplicationPathogenicrs80359577GRCh37Chr 13, 32914865: 32914865
295BRCA2NM_000059.3(BRCA2): c.6434_6441delATAATCAC (p.Asn2145Ilefs)deletionPathogenicrs397507371GRCh37Chr 13, 32914926: 32914933
296BRCA2NM_000059.3(BRCA2): c.6444dupT (p.Ile2149Tyrfs)duplicationPathogenicrs80359590GRCh37Chr 13, 32914936: 32914936
297BRCA2NM_000059.3(BRCA2): c.6486_6489delACAA (p.Lys2162Asnfs)deletionPathogenicrs80359598GRCh37Chr 13, 32914978: 32914981
298BRCA2NM_000059.3(BRCA2): c.6535_6536insA (p.Val2179Aspfs)insertionPathogenicrs80359601GRCh37Chr 13, 32915027: 32915028
299BRCA2NM_000059.3(BRCA2): c.663T> G (p.Phe221Leu)single nucleotide variantPathogenicrs80358891GRCh37Chr 13, 32903611: 32903611
300BRCA2NM_000059.3(BRCA2): c.6641dupC (p.Tyr2215Leufs)duplicationPathogenicrs80359613GRCh37Chr 13, 32915133: 32915133
301BRCA2NM_000059.3(BRCA2): c.6644_6647delACTC (p.Tyr2215Serfs)deletionPathogenicrs80359616GRCh37Chr 13, 32915136: 32915139
302BRCA2NM_000059.3(BRCA2): c.6724_6725delGA (p.Asp2242Phefs)deletionPathogenicrs397507375GRCh37Chr 13, 32915216: 32915217
303BRCA2NM_000059.3(BRCA2): c.688A> T (p.Lys230Ter)single nucleotide variantPathogenicrs80358913GRCh37Chr 13, 32905062: 32905062
304BRCA2NM_000059.3(BRCA2): c.6941delC (p.Thr2314Lysfs)deletionPathogenicrs80359628GRCh37Chr 13, 32920967: 32920967
305BRCA2NM_000059.3(BRCA2): c.6944_6947delTAAA (p.Ile2315Lysfs)deletionPathogenicrs80359629GRCh37Chr 13, 32920970: 32920973
306BRCA2NM_000059.3(BRCA2): c.6952C> T (p.Arg2318Ter)single nucleotide variantPathogenicrs80358920GRCh37Chr 13, 32920978: 32920978
307BRCA2NM_000059.3(BRCA2): c.7069_7070delCT (p.Leu2357Valfs)deletionPathogenicrs80359636GRCh37Chr 13, 32929059: 32929060
308BRCA2NM_000059.3(BRCA2): c.7133C> G (p.Ser2378Ter)single nucleotide variantPathogenicrs276174889GRCh37Chr 13, 32929123: 32929123
309BRCA2NM_000059.3(BRCA2): c.7258G> T (p.Glu2420Ter)single nucleotide variantPathogenicrs397507385GRCh37Chr 13, 32929248: 32929248
310BRCA2NM_000059.3(BRCA2): c.7379_7382delACAA (p.Asn2460Thrfs)deletionPathogenicrs80359648GRCh37Chr 13, 32929369: 32929372
311BRCA2NM_000059.3(BRCA2): c.7412_7421delCAAAGTGTGA (p.Thr2471Lysfs)deletionPathogenicrs80359649GRCh37Chr 13, 32929402: 32929411
312BRCA2NM_000059.3(BRCA2): c.7414_7415delAA (p.Lys2472Valfs)deletionPathogenicrs80359650GRCh37Chr 13, 32929404: 32929405
313BRCA2NM_000059.3(BRCA2): c.7419_7420delTG (p.Cys2473Terfs)deletionPathogenicrs80359651GRCh37Chr 13, 32929409: 32929410
314BRCA2NM_000059.3(BRCA2): c.7480C> T (p.Arg2494Ter)single nucleotide variantPathogenicrs80358972GRCh37Chr 13, 32930609: 32930609
315BRCA2NM_000059.3(BRCA2): c.755_758delACAG (p.Asp252Valfs)deletionPathogenicrs80359659GRCh37Chr 13, 32905129: 32905132
316BRCA2NM_000059.3(BRCA2): c.7567_7568delCT (p.Leu2523Glufs)deletionPathogenicrs80359664GRCh37Chr 13, 32930696: 32930697
317BRCA2NM_000059.3(BRCA2): c.756_757delCA (p.Asp252Glufs)deletionPathogenicrs80359662GRCh37Chr 13, 32905130: 32905131
318BRCA2NM_000059.3(BRCA2): c.7618-1G> Asingle nucleotide variantPathogenicrs397507389GRCh37Chr 13, 32931878: 32931878
319BRCA2NM_000059.3(BRCA2): c.7673_7674delAG (p.Glu2558Valfs)deletionPathogenicrs80359672GRCh37Chr 13, 32931934: 32931935
320BRCA2NM_000059.3(BRCA2): c.7758G> A (p.Trp2586Ter)single nucleotide variantPathogenicrs80359004GRCh37Chr 13, 32932019: 32932019
321BRCA2NM_000059.3(BRCA2): c.778_779delGA (p.Glu260Serfs)deletionPathogenicrs80359680GRCh37Chr 13, 32905152: 32905153
322BRCA2NM_000059.3(BRCA2): c.7857G> A (p.Trp2619Ter)single nucleotide variantPathogenicrs80359011GRCh37Chr 13, 32936711: 32936711
323BRCA2NM_000059.3(BRCA2): c.7868A> G (p.His2623Arg)single nucleotide variantLikely pathogenicrs80359012GRCh37Chr 13, 32936722: 32936722
324BRCA2NM_000059.3(BRCA2): c.7878G> A (p.Trp2626Ter)single nucleotide variantPathogenicrs80359013GRCh37Chr 13, 32936732: 32936732
325BRCA2NM_000059.3(BRCA2): c.7913_7917delTTCCT (p.Phe2638Terfs)deletionPathogenicrs80359687GRCh37Chr 13, 32936767: 32936771
326BRCA2NM_000059.3(BRCA2): c.7963C> T (p.Gln2655Ter)single nucleotide variantPathogenicrs397507395GRCh37Chr 13, 32936817: 32936817
327BRCA2NM_000059.3(BRCA2): c.7974C> G (p.Tyr2658Ter)single nucleotide variantPathogenicrs80359025GRCh37Chr 13, 32936828: 32936828
328BRCA2NM_000059.3(BRCA2): c.7976G> A (p.Arg2659Lys)single nucleotide variantPathogenicrs80359027GRCh37Chr 13, 32936830: 32936830
329BRCA2NM_000059.3(BRCA2): c.8168A> G (p.Asp2723Gly)single nucleotide variantPathogenicrs41293513GRCh37Chr 13, 32937507: 32937507
330BRCA2NM_000059.3(BRCA2): c.8297delC (p.Thr2766Asnfs)deletionPathogenicrs80359705GRCh37Chr 13, 32937636: 32937636
331BRCA2NM_000059.3(BRCA2): c.8322dupT (p.Met2775Tyrfs)duplicationPathogenicrs80359706GRCh37Chr 13, 32937661: 32937661
332BRCA2NM_000059.3(BRCA2): c.8331+1G> Asingle nucleotide variantPathogenicrs81002837GRCh37Chr 13, 32937671: 32937671
333BRCA2NM_000059.3(BRCA2): c.8501delC (p.Thr2834Asnfs)deletionPathogenicrs80359712GRCh37Chr 13, 32945106: 32945106
334BRCA2NM_000059.3(BRCA2): c.8548_8551delGAAG (p.Glu2850Glnfs)deletionPathogenicrs397507406GRCh37Chr 13, 32945153: 32945156
335BRCA2NM_000059.3(BRCA2): c.8575delC (p.Gln2859Lysfs)deletionPathogenicrs80359718GRCh37Chr 13, 32945180: 32945180
336BRCA2NM_000059.3(BRCA2): c.8585dupT (p.Glu2863Argfs)duplicationPathogenicrs80359720GRCh37Chr 13, 32945190: 32945190
337BRCA2NM_000059.3(BRCA2): c.8633-2A> Gsingle nucleotide variantPathogenicrs81002886GRCh37Chr 13, 32950805: 32950805
338BRCA2NM_000059.3(BRCA2): c.8677C> T (p.Gln2893Ter)single nucleotide variantPathogenicrs397507409GRCh37Chr 13, 32950851: 32950851
339BRCA2NM_000059.3(BRCA2): c.8695C> T (p.Gln2899Ter)single nucleotide variantPathogenicrs397507411GRCh37Chr 13, 32950869: 32950869
340BRCA2NM_000059.3(BRCA2): c.8754+5G> Asingle nucleotide variantPathogenicrs81002813GRCh37Chr 13, 32950933: 32950933
341BRCA2NM_000059.3(BRCA2): c.8755-1G> Asingle nucleotide variantLikely pathogenic, Pathogenicrs81002812GRCh37Chr 13, 32953453: 32953453
342BRCA2NM_000059.3(BRCA2): c.8869C> T (p.Gln2957Ter)single nucleotide variantPathogenicrs276174913GRCh37Chr 13, 32953568: 32953568
343BRCA2NM_000059.3(BRCA2): c.8904delC (p.Val2969Cysfs)deletionPathogenicrs80359730GRCh37Chr 13, 32953603: 32953603
344BRCA2NM_000059.3(BRCA2): c.8951C> G (p.Ser2984Ter)single nucleotide variantPathogenicrs80359146GRCh37Chr 13, 32953650: 32953650
345BRCA2NM_000059.3(BRCA2): c.8953+1G> Tsingle nucleotide variantPathogenicrs81002882GRCh37Chr 13, 32953653: 32953653
346BRCA2NM_000059.3(BRCA2): c.9004G> A (p.Glu3002Lys)single nucleotide variantLikely pathogenic, Pathogenicrs80359152GRCh37Chr 13, 32953937: 32953937
347BRCA2NM_000059.3(BRCA2): c.9026_9030delATCAT (p.Tyr3009Serfs)deletionPathogenicrs80359741GRCh37Chr 13, 32953959: 32953963
348BRCA2NM_000059.3(BRCA2): c.9076C> T (p.Gln3026Ter)single nucleotide variantPathogenicrs80359159GRCh37Chr 13, 32954009: 32954009
349BRCA2NM_000059.3(BRCA2): c.9097dupA (p.Thr3033Asnfs)duplicationPathogenicrs397507419GRCh37Chr 13, 32954030: 32954031
350BRCA2NM_000059.3(BRCA2): c.9097delA (p.Thr3033Leufs)deletionPathogenicrs397507420GRCh37Chr 13, 32954030: 32954030
351BRCA2NM_000059.3(BRCA2): c.9117G> A (p.Pro3039=)single nucleotide variantLikely pathogenic, Pathogenicrs28897756GRCh37Chr 13, 32954050: 32954050
352BRCA2NM_000059.3(BRCA2): c.9253dupA (p.Thr3085Asnfs)duplicationPathogenicrs80359752GRCh37Chr 13, 32954279: 32954279
353BRCA2NM_000059.3(BRCA2): c.9294C> A (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
354BRCA2NM_000059.3(BRCA2): c.9294C> G (p.Tyr3098Ter)single nucleotide variantPathogenicrs80359200GRCh37Chr 13, 32968863: 32968863
355BRCA2NM_000059.3(BRCA2): c.9371A> T (p.Asn3124Ile)single nucleotide variantPathogenicrs28897759GRCh37Chr 13, 32968940: 32968940
356BRCA2NM_000059.3(BRCA2): c.9380G> A (p.Trp3127Ter)single nucleotide variantPathogenicrs80359211GRCh37Chr 13, 32968949: 32968949
357BRCA2NM_000059.3(BRCA2): c.9401delG (p.Gly3134Alafs)deletionPathogenicrs80359759GRCh37Chr 13, 32968970: 32968970
358BRCA2NM_000059.3(BRCA2): c.9435_9436delGT (p.Ser3147Cysfs)deletionPathogenicrs80359763GRCh37Chr 13, 32969004: 32969005
359BRCA2NM_000059.3(BRCA2): c.9580_9581delCC (p.Pro3194Asnfs)deletionPathogenicrs80359771GRCh37Chr 13, 32971113: 32971114
360BRCA2NM_000059.3(BRCA2): c.9599C> G (p.Ser3200Ter)single nucleotide variantPathogenicrs80359230GRCh37Chr 13, 32971132: 32971132
361BRCA2NM_000059.3(BRCA2): c.9699_9702delTATG (p.Cys3233Trpfs)deletionLikely pathogenic, Pathogenicrs80359775GRCh37Chr 13, 32972349: 32972352
362BRCA2NM_000059.3(BRCA2): c.5482_5486delAAATT (p.Lys1828Valfs)deletionPathogenicrs80359516GRCh37Chr 13, 32913974: 32913978
363BRCA2NM_000059.3(BRCA2): c.100G> T (p.Glu34Ter)single nucleotide variantPathogenicrs80358391GRCh37Chr 13, 32893246: 32893246
364BRCA2NM_000059.3(BRCA2): c.1103C> A (p.Ser368Ter)single nucleotide variantPathogenicrs80358407GRCh37Chr 13, 32906718: 32906718
365BRCA2NM_000059.3(BRCA2): c.1128delT (p.Phe376Leufs)deletionPathogenicrs80359263GRCh37Chr 13, 32906743: 32906743
366BRCA2NM_000059.3(BRCA2): c.1138delA (p.Ser380Valfs)deletionPathogenicrs80359264GRCh37Chr 13, 32906753: 32906753
367BRCA2NM_000059.3(BRCA2): c.1147delA (p.Ile383Serfs)deletionPathogenicrs80359265GRCh37Chr 13, 32906762: 32906762
368BRCA2NM_000059.3(BRCA2): c.1153A> T (p.Lys385Ter)single nucleotide variantPathogenicrs80358411GRCh37Chr 13, 32906768: 32906768
369BRCA2NM_000059.3(BRCA2): c.1202C> G (p.Ser401Ter)single nucleotide variantPathogenicrs80358413GRCh37Chr 13, 32906817: 32906817
370BRCA2NM_000059.3(BRCA2): c.1219delC (p.Gln407Argfs)deletionPathogenicrs80359267GRCh37Chr 13, 32906834: 32906834
371BRCA2NM_000059.3(BRCA2): c.1225delG (p.Glu409Argfs)deletionPathogenicrs80359268GRCh37Chr 13, 32906840: 32906840
372BRCA2NM_000059.3(BRCA2): c.1233dupA (p.Pro412Thrfs)duplicationPathogenicrs80359270GRCh37Chr 13, 32906848: 32906849
373BRCA2NM_000059.3(BRCA2): c.1261C> T (p.Gln421Ter)single nucleotide variantPathogenicrs80358419GRCh37Chr 13, 32906876: 32906876
374BRCA2NM_000059.3(BRCA2): c.1278delA (p.Asp427Thrfs)deletionPathogenicrs80359274GRCh37Chr 13, 32906893: 32906893
375BRCA2NM_000059.3(BRCA2): c.128delA (p.Asn43Ilefs)deletionPathogenicrs80359275GRCh37Chr 13, 32893274: 32893274
376BRCA2NM_000059.3(BRCA2): c.1307delA (p.Lys436Argfs)deletionPathogenicrs80359278GRCh37Chr 13, 32906922: 32906922
377BRCA2NM_000059.3(BRCA2): c.1399A> T (p.Lys467Ter)single nucleotide variantPathogenicrs80358427GRCh37Chr 13, 32907014: 32907014
378BRCA2NM_000059.3(BRCA2): c.1411G> T (p.Glu471Ter)single nucleotide variantPathogenicrs80358428GRCh37Chr 13, 32907026: 32907026
379BRCA2NM_000059.3(BRCA2): c.1414C> T (p.Gln472Ter)single nucleotide variantPathogenicrs80358429GRCh37Chr 13, 32907029: 32907029
380BRCA2NM_000059.3(BRCA2): c.1456C> T (p.Gln486Ter)single nucleotide variantPathogenicrs80358434GRCh37Chr 13, 32907071: 32907071
381BRCA2NM_000059.3(BRCA2): c.145G> T (p.Glu49Ter)single nucleotide variantPathogenicrs80358435GRCh37Chr 13, 32893291: 32893291
382BRCA2NM_000059.3(BRCA2): c.1496_1497delAG (p.Gln499Argfs)deletionPathogenicrs80359285GRCh37Chr 13, 32907111: 32907112
383BRCA2NM_000059.3(BRCA2): c.1499delG (p.Gly500Valfs)deletionPathogenicrs397507591GRCh37Chr 13, 32907114: 32907114
384BRCA2NM_000059.3(BRCA2): c.1511_1512delCT (p.Ser504Tyrfs)deletionPathogenicrs80359286GRCh37Chr 13, 32907126: 32907127
385BRCA2NM_000059.3(BRCA2): c.151delG (p.Glu51Asnfs)deletionPathogenicrs80359287GRCh37Chr 13, 32893297: 32893297
386BRCA2NM_000059.3(BRCA2): c.1528G> T (p.Glu510Ter)single nucleotide variantPathogenicrs80358438GRCh37Chr 13, 32907143: 32907143
387BRCA2NM_000059.3(BRCA2): c.1547delT (p.Phe516Serfs)deletionPathogenicrs80359289GRCh37Chr 13, 32907162: 32907162
388BRCA2NM_000059.3(BRCA2): c.1595_1599delAAACT (p.Glu532Glyfs)deletionPathogenicrs80359291GRCh37Chr 13, 32907210: 32907214
389BRCA2NM_000059.3(BRCA2): c.1597delA (p.Thr533Leufs)deletionPathogenicrs80359292GRCh37Chr 13, 32907212: 32907212
390BRCA2NM_000059.3(BRCA2): c.1599_1600delTG (p.Glu534Serfs)deletionPathogenicrs80359293GRCh37Chr 13, 32907214: 32907215
391BRCA2NM_000059.3(BRCA2): c.1617delA (p.Leu540Trpfs)deletionPathogenicrs80359294GRCh37Chr 13, 32907232: 32907232
392BRCA2NM_000059.3(BRCA2): c.1631_1632delCT (p.Thr544Serfs)deletionPathogenicrs80359295GRCh37Chr 13, 32907246: 32907247
393BRCA2NM_000059.3(BRCA2): c.1654delT (p.Ser552Profs)deletionPathogenicrs80359297GRCh37Chr 13, 32907269: 32907269
394BRCA2NM_000059.3(BRCA2): c.1670T> G (p.Leu557Ter)single nucleotide variantPathogenicrs80358452GRCh37Chr 13, 32907285: 32907285
395BRCA2NM_000059.3(BRCA2): c.1681G> T (p.Gly561Ter)single nucleotide variantPathogenicrs80358455GRCh37Chr 13, 32907296: 32907296
396BRCA2NM_000059.3(BRCA2): c.1689G> A (p.Trp563Ter)single nucleotide variantPathogenicrs80358456GRCh37Chr 13, 32907304: 32907304
397BRCA2NM_000059.3(BRCA2): c.1705delC (p.Gln569Argfs)deletionPathogenicrs80359300GRCh37Chr 13, 32907320: 32907320
398BRCA2NM_000059.3(BRCA2): c.170dupA (p.Tyr57Terfs)duplicationPathogenicrs80359299GRCh37Chr 13, 32893316: 32893317
399BRCA2NM_000059.3(BRCA2): c.1754delA (p.Lys585Argfs)deletionPathogenicrs80359301GRCh37Chr 13, 32907369: 32907369
400BRCA2NM_000059.3(BRCA2): c.1763_1766delATAA (p.Asn588Serfs)deletionPathogenicrs80359303GRCh37Chr 13, 32907378: 32907381
401BRCA2NM_000059.3(BRCA2): c.1789G> T (p.Glu597Ter)single nucleotide variantPathogenicrs80358461GRCh37Chr 13, 32907404: 32907404
402BRCA2NM_000059.3(BRCA2): c.17_18delAA (p.Lys6Argfs)deletionPathogenicrs80359298GRCh37Chr 13, 32890614: 32890615
403BRCA2NM_000059.3(BRCA2): c.1800T> G (p.Tyr600Ter)single nucleotide variantPathogenicrs80358464GRCh37Chr 13, 32907415: 32907415
404BRCA2NM_000059.3(BRCA2): c.1815dupA (p.Pro606Thrfs)duplicationPathogenicrs80359310GRCh37Chr 13, 32907430: 32907431
405BRCA2NM_000059.3(BRCA2): c.1825C> T (p.Gln609Ter)single nucleotide variantPathogenicrs80358472GRCh37Chr 13, 32907440: 32907440
406BRCA2NM_000059.3(BRCA2): c.1831delT (p.Ser611Glnfs)deletionPathogenicrs80359311GRCh37Chr 13, 32907446: 32907446
407BRCA2NM_000059.3(BRCA2): c.1842dupT (p.Asn615Terfs)duplicationPathogenicrs80359312GRCh37Chr 13, 32907457: 32907458
408BRCA2NM_000059.3(BRCA2): c.1854delCinsAA (p.Gln619Thrfs)indelPathogenicrs276174815GRCh37Chr 13, 32907469: 32907469
409BRCA2NM_000059.3(BRCA2): c.1855C> T (p.Gln619Ter)single nucleotide variantPathogenicrs80358476GRCh37Chr 13, 32907470: 32907470
410BRCA2NM_000059.3(BRCA2): c.1888dupA (p.Thr630Asnfs)duplicationPathogenicrs80359314GRCh37Chr 13, 32907503: 32907504
411BRCA2NM_000059.3(BRCA2): c.1889delC (p.Thr630Asnfs)deletionPathogenicrs80359315GRCh37Chr 13, 32907504: 32907504
412BRCA2NM_000059.3(BRCA2): c.2026delT (p.Cys676Valfs)deletionPathogenicrs80359317GRCh37Chr 13, 32910518: 32910518
413BRCA2NM_000059.3(BRCA2): c.204delA (p.Lys68Asnfs)deletionPathogenicrs80359320GRCh37Chr 13, 32893350: 32893350
414BRCA2NM_000059.3(BRCA2): c.2064T> G (p.Tyr688Ter)single nucleotide variantPathogenicrs80358485GRCh37Chr 13, 32910556: 32910556
415BRCA2NM_000059.3(BRCA2): c.2084_2088delAGGAA (p.Glu696Thrfs)deletionPathogenicrs80359321GRCh37Chr 13, 32910576: 32910580
416BRCA2NM_000059.3(BRCA2): c.2094delA (p.Gln699Serfs)deletionPathogenicrs80359323GRCh37Chr 13, 32910586: 32910586
417BRCA2NM_000059.3(BRCA2): c.2103_2106delTATT (p.Phe701Leufs)deletionPathogenicrs80359324GRCh37Chr 13, 32910595: 32910598
418BRCA2NM_000059.3(BRCA2): c.2224C> T (p.Gln742Ter)single nucleotide variantPathogenicrs80358494GRCh37Chr 13, 32910716: 32910716
419BRCA2NM_000059.3(BRCA2): c.2254_2257delGACT (p.Asp752Phefs)deletionPathogenicrs80359326GRCh37Chr 13, 32910746: 32910749
420BRCA2NM_000059.3(BRCA2): c.227C> G (p.Ser76Ter)single nucleotide variantPathogenicrs80358498GRCh37Chr 13, 32893373: 32893373
421BRCA2NM_000059.3(BRCA2): c.2287delC (p.His763Metfs)deletionPathogenicrs80359327GRCh37Chr 13, 32910779: 32910779
422BRCA2NM_000059.3(BRCA2): c.22_23delAG (p.Arg8Alafs)deletionPathogenicrs397507623GRCh37Chr 13, 32890619: 32890620
423BRCA2NM_000059.3(BRCA2): c.2376C> A (p.Tyr792Ter)single nucleotide variantPathogenicrs80358503GRCh37Chr 13, 32910868: 32910868
424BRCA2NM_000059.3(BRCA2): c.2435delA (p.Asn812Ilefs)deletionPathogenicrs80359329GRCh37Chr 13, 32910927: 32910927
425BRCA2NM_000059.3(BRCA2): c.2446delG (p.Glu816Lysfs)deletionPathogenicrs80359330GRCh37Chr 13, 32910938: 32910938
426BRCA2NM_000059.3(BRCA2): c.2450delA (p.Lys817Argfs)deletionPathogenicrs80359331GRCh37Chr 13, 32910942: 32910942
427BRCA2NM_000059.3(BRCA2): c.2471_2476delTAAATG (p.Leu824Ter)deletionPathogenicrs276174823GRCh37Chr 13, 32910963: 32910968
428BRCA2NM_000059.3(BRCA2): c.250C> T (p.Gln84Ter)single nucleotide variantPathogenicrs80358515GRCh37Chr 13, 32893396: 32893396
429BRCA2NM_000059.3(BRCA2): c.2517C> A (p.Tyr839Ter)single nucleotide variantPathogenicrs80358516GRCh37Chr 13, 32911009: 32911009
430BRCA2NM_000059.3(BRCA2): c.2537C> G (p.Ser846Ter)single nucleotide variantPathogenicrs80358518GRCh37Chr 13, 32911029: 32911029
431BRCA2NM_000059.3(BRCA2): c.2545delG (p.Val849Tyrfs)deletionPathogenicrs80359333GRCh37Chr 13, 32911037: 32911037
432BRCA2NM_000059.3(BRCA2): c.2564_2565delCA (p.Thr855Lysfs)deletionPathogenicrs80359334GRCh37Chr 13, 32911056: 32911057
433BRCA2NM_000059.3(BRCA2): c.2586_2592delAAATCAA (p.Asn863Lysfs)deletionPathogenicrs80359337GRCh37Chr 13, 32911078: 32911084
434BRCA2NM_000059.3(BRCA2): c.2603delC (p.Thr868Ilefs)deletionPathogenicrs276174824GRCh37Chr 13, 32911095: 32911095
435BRCA2NM_000059.3(BRCA2): c.2612C> A (p.Ser871Ter)single nucleotide variantPathogenicrs397507634GRCh37Chr 13, 32911104: 32911104
436BRCA2NM_000059.3(BRCA2): c.262_263delCT (p.Leu88Alafs)deletionPathogenicrs276174825GRCh37Chr 13, 32893408: 32893409
437BRCA2NM_000059.3(BRCA2): c.2636_2637delCT (p.Ser879Terfs)deletionPathogenicrs276174826GRCh37Chr 13, 32911128: 32911129
438BRCA2NM_000059.3(BRCA2): c.263delT (p.Leu88Argfs)deletionPathogenicrs80359339GRCh37Chr 13, 32893409: 32893409
439BRCA2NM_000059.3(BRCA2): c.2653_2656delGACA (p.Asp885Metfs)deletionPathogenicrs80359340GRCh37Chr 13, 32911145: 32911148
440BRCA2NM_000059.3(BRCA2): c.266delC (p.Pro89Argfs)deletionPathogenicrs80359341GRCh37Chr 13, 32893412: 32893412
441BRCA2NM_000059.3(BRCA2): c.2684delC (p.Ala895Valfs)deletionPathogenicrs80359342GRCh37Chr 13, 32911176: 32911176
442BRCA2NM_000059.3(BRCA2): c.26delC (p.Pro9Glnfs)deletionPathogenicrs80359343GRCh37Chr 13, 32890623: 32890623
443BRCA2NM_000059.3(BRCA2): c.2731delG (p.Glu911Lysfs)deletionPathogenicrs80359344GRCh37Chr 13, 32911223: 32911223
444BRCA2NM_000059.3(BRCA2): c.2760delC (p.Ile921Phefs)deletionPathogenicrs80359346GRCh37Chr 13, 32911252: 32911252
445BRCA2NM_000059.3(BRCA2): c.276dupA (p.Ser93Ilefs)duplicationPathogenicrs80359345GRCh37Chr 13, 32893422: 32893423
446BRCA2NM_000059.3(BRCA2): c.2786dupT (p.Leu929Phefs)duplicationPathogenicrs80359347GRCh37Chr 13, 32911278: 32911279
447BRCA2NM_000059.3(BRCA2): c.2798_2799delCA (p.Thr933Argfs)deletionPathogenicrs80359348GRCh37Chr 13, 32911290: 32911291
448BRCA2NM_000059.3(BRCA2): c.2798delC (p.Thr933Lysfs)deletionPathogenicrs80359349GRCh37Chr 13, 32911290: 32911290
449BRCA2NM_000059.3(BRCA2): c.2805_2808delTAAA (p.Ala938Profs)deletionPathogenicrs80359350GRCh37Chr 13, 32911297: 32911300
450BRCA2NM_000059.3(BRCA2): c.2810_2811delAA (p.Gln937Argfs)deletionPathogenicrs80359353GRCh37Chr 13, 32911302: 32911303
451BRCA2NM_000059.3(BRCA2): c.2830A> T (p.Lys944Ter)single nucleotide variantPathogenicrs80358533GRCh37Chr 13, 32911322: 32911322
452BRCA2NM_000059.3(BRCA2): c.2836_2837delGA (p.Asp946Phefs)deletionPathogenicrs80359357GRCh37Chr 13, 32911328: 32911329
453BRCA2NM_000059.3(BRCA2): c.2836delG (p.Asp946Ilefs)deletionPathogenicrs80359358GRCh37Chr 13, 32911328: 32911328
454BRCA2NM_000059.3(BRCA2): c.2881C> T (p.Gln961Ter)single nucleotide variantPathogenicrs80358538GRCh37Chr 13, 32911373: 32911373
455BRCA2NM_000059.3(BRCA2): c.289G> T (p.Glu97Ter)single nucleotide variantPathogenicrs397507646GRCh37Chr 13, 32893435: 32893435
456BRCA2NM_000059.3(BRCA2): c.298A> T (p.Lys100Ter)single nucleotide variantPathogenicrs80358546GRCh37Chr 13, 32893444: 32893444
457BRCA2NM_000059.3(BRCA2): c.2T> G (p.Met1Arg)single nucleotide variantPathogenicrs80358547GRCh37Chr 13, 32890599: 32890599
458BRCA2NM_000059.3(BRCA2): c.3051delC (p.Lys1018Serfs)deletionPathogenicrs80359367GRCh37Chr 13, 32911543: 32911543
459BRCA2NM_000059.3(BRCA2): c.3068dupA (p.Asn1023Lysfs)duplicationPathogenicrs80359368GRCh37Chr 13, 32911560: 32911561
460BRCA2NM_000059.3(BRCA2): c.3076A> T (p.Lys1026Ter)single nucleotide variantPathogenicrs80358552GRCh37Chr 13, 32911568: 32911568
461BRCA2NM_000059.3(BRCA2): c.3103G> T (p.Glu1035Ter)single nucleotide variantPathogenicrs80358556GRCh37Chr 13, 32911595: 32911595
462BRCA2NM_000059.3(BRCA2): c.3146delA (p.Asn1049Ilefs)deletionPathogenicrs80359370GRCh37Chr 13, 32911638: 32911638
463BRCA2NM_000059.3(BRCA2): c.314T> G (p.Leu105Ter)single nucleotide variantPathogenicrs80358561GRCh37Chr 13, 32893460: 32893460
464BRCA2NM_000059.3(BRCA2): c.316+2T> Csingle nucleotide variantLikely pathogenic, Pathogenicrs81002805GRCh37Chr 13, 32893464: 32893464
465BRCA2NM_000059.3(BRCA2): c.3166C> T (p.Gln1056Ter)single nucleotide variantPathogenicrs79728106GRCh37Chr 13, 32911658: 32911658
466BRCA2NM_000059.3(BRCA2): c.3167_3170delAAAA (p.Gln1056Argfs)deletionPathogenicrs80359372GRCh37Chr 13, 32911659: 32911662
467BRCA2NM_000059.3(BRCA2): c.3189_3192delGTCA (p.Ser1064Leufs)deletionPathogenicrs80359374GRCh37Chr 13, 32911681: 32911684
468BRCA2NM_000059.3(BRCA2): c.3195_3198delTAAT (p.Asn1066Leufs)deletionPathogenicrs80359376GRCh37Chr 13, 32911687: 32911690
469BRCA2NM_000059.3(BRCA2): c.3199delA (p.Thr1067Leufs)deletionPathogenicrs80359377GRCh37Chr 13, 32911691: 32911691
470BRCA2NM_000059.3(BRCA2): c.3202delG (p.Val1068Tyrfs)deletionPathogenicrs397507658GRCh37Chr 13, 32911694: 32911694
471BRCA2NM_000059.3(BRCA2): c.3226_3230delGTAGT (p.Val1076Cysfs)deletionPathogenicrs397507659GRCh37Chr 13, 32911718: 32911722
472BRCA2NM_000059.3(BRCA2): c.3228_3229delAG (p.Val1077Cysfs)deletionPathogenicrs80359378GRCh37Chr 13, 32911720: 32911721
473BRCA2NM_000059.3(BRCA2): c.3262_3263delCC (p.Pro1088Serfs)deletionPathogenicrs80359379GRCh37Chr 13, 32911754: 32911755
474BRCA2NM_000059.3(BRCA2): c.3265C> T (p.Gln1089Ter)single nucleotide variantPathogenicrs80358573GRCh37Chr 13, 32911757: 32911757
475BRCA2NM_000059.3(BRCA2): c.3269delT (p.Met1090Serfs)deletionPathogenicrs80359381GRCh37Chr 13, 32911761: 32911761
476BRCA2NM_000059.3(BRCA2): c.3273_3276delATTT (p.Leu1091Phefs)deletionPathogenicrs80359382GRCh37Chr 13, 32911765: 32911768
477BRCA2NM_000059.3(BRCA2): c.3277delT (p.Ser1093Profs)deletionPathogenicrs276174833GRCh37Chr 13, 32911769: 32911769
478BRCA2NM_000059.3(BRCA2): c.3294delT (p.Ser1099Glnfs)deletionPathogenicrs80359383GRCh37Chr 13, 32911786: 32911786
479BRCA2NM_000059.3(BRCA2): c.3319C> T (p.Gln1107Ter)single nucleotide variantPathogenicrs80358578GRCh37Chr 13, 32911811: 32911811
480BRCA2NM_000059.3(BRCA2): c.3354delA (p.Glu1119Lysfs)deletionPathogenicrs80359384GRCh37Chr 13, 32911846: 32911846
481BRCA2NM_000059.3(BRCA2): c.3362C> G (p.Ser1121Ter)single nucleotide variantPathogenicrs80358579GRCh37Chr 13, 32911854: 32911854
482BRCA2NM_000059.3(BRCA2): c.3381delT (p.Phe1127Leufs)deletionPathogenicrs397507666GRCh37Chr 13, 32911873: 32911873
483BRCA2NM_000059.3(BRCA2): c.3455T> G (p.Leu1152Ter)single nucleotide variantPathogenicrs80358593GRCh37Chr 13, 32911947: 32911947
484BRCA2NM_000059.3(BRCA2): c.3469G> T (p.Glu1157Ter)single nucleotide variantPathogenicrs80358595GRCh37Chr 13, 32911961: 32911961
485BRCA2NM_000059.3(BRCA2): c.3500_3501delTA (p.Ile1167Asnfs)deletionPathogenicrs80359387GRCh37Chr 13, 32911992: 32911993
486BRCA2NM_000059.3(BRCA2): c.3554_3555delCA (p.Thr1185Serfs)deletionPathogenicrs80359389GRCh37Chr 13, 32912046: 32912047
487BRCA2NM_000059.3(BRCA2): c.3570delG (p.Lys1191Serfs)deletionPathogenicrs80359390GRCh37Chr 13, 32912062: 32912062
488BRCA2NM_000059.3(BRCA2): c.3599_3600delGT (p.Cys1200Terfs)deletionPathogenicrs80359392GRCh37Chr 13, 32912091: 32912092
489BRCA2NM_000059.3(BRCA2): c.3638delA (p.Val1214Trpfs)deletionPathogenicrs80359394GRCh37Chr 13, 32912130: 32912130
490BRCA2NM_000059.3(BRCA2): c.3680_3681delTG (p.Leu1227Glnfs)deletionPathogenicrs80359395GRCh37Chr 13, 32912172: 32912173
491BRCA2NM_000059.3(BRCA2): c.3682_3685delAATG (p.Asn1228Phefs)deletionPathogenicrs80359396GRCh37Chr 13, 32912174: 32912177
492BRCA2NM_000059.3(BRCA2): c.3685delG (p.Val1229Phefs)deletionPathogenicrs80359397GRCh37Chr 13, 32912177: 32912177
493BRCA2NM_000059.3(BRCA2): c.36delT (p.Phe12Leufs)deletionPathogenicrs80359399GRCh37Chr 13, 32890633: 32890633
494BRCA2NM_000059.3(BRCA2): c.36dupT (p.Glu13Terfs)duplicationPathogenicrs80359393GRCh37Chr 13, 32890633: 32890634
495BRCA2NM_000059.3(BRCA2): c.3737delA (p.Asn1246Ilefs)deletionPathogenicrs80359402GRCh37Chr 13, 32912229: 32912229
496BRCA2NM_000059.3(BRCA2): c.3748G> T (p.Glu1250Ter)single nucleotide variantPathogenicrs80358615GRCh37Chr 13, 32912240: 32912240
497BRCA2NM_000059.3(BRCA2): c.3785C> G (p.Ser1262Ter)single nucleotide variantPathogenicrs80358620GRCh37Chr 13, 32912277: 32912277
498BRCA2NM_000059.3(BRCA2): c.37G> T (p.Glu13Ter)single nucleotide variantPathogenicrs80358622GRCh37Chr 13, 32890634: 32890634
499BRCA2NM_000059.3(BRCA2): c.3812C> A (p.Ser1271Ter)single nucleotide variantPathogenicrs80358623GRCh37Chr 13, 32912304: 32912304
500BRCA2NM_000059.3(BRCA2): c.3837delT (p.Asn1279Lysfs)deletionPathogenicrs80359404GRCh37Chr 13, 32912329: 32912329
501BRCA2NM_000059.3(BRCA2): c.3859_3860delAA (p.Asn1287Terfs)deletionPathogenicrs80359408GRCh37Chr 13, 32912351: 32912352
502BRCA2NM_000059.3(BRCA2): c.3860_3863delATAA (p.Asn1287Ilefs)deletionPathogenicrs80359410GRCh37Chr 13, 32912352: 32912355
503BRCA2NM_000059.3(BRCA2): c.3860delA (p.Asn1287Ilefs)deletionPathogenicrs80359411GRCh37Chr 13, 32912352: 32912352
504BRCA2NM_000059.3(BRCA2): c.3860dupA (p.Asn1287Lysfs)duplicationPathogenicrs80359409GRCh37Chr 13, 32912352: 32912353
505BRCA2NM_000059.3(BRCA2): c.3871C> T (p.Gln1291Ter)single nucleotide variantPathogenicrs80358631GRCh37Chr 13, 32912363: 32912363
506BRCA2NM_000059.3(BRCA2): c.3881T> A (p.Leu1294Ter)single nucleotide variantPathogenicrs80358632GRCh37Chr 13, 32912373: 32912373
507BRCA2NM_000059.3(BRCA2): c.3911delC (p.Thr1304Ilefs)deletionPathogenicrs80359415GRCh37Chr 13, 32912403: 32912403
508BRCA2NM_000059.3(BRCA2): c.3919delG (p.Glu1307Lysfs)deletionPathogenicrs80359416GRCh37Chr 13, 32912411: 32912411
509BRCA2NM_000059.3(BRCA2): c.3939C> A (p.Tyr1313Ter)single nucleotide variantPathogenicrs80358641GRCh37Chr 13, 32912431: 32912431
510BRCA2NM_000059.3(BRCA2): c.3939delC (p.Tyr1313Terfs)deletionPathogenicrs276174838GRCh37Chr 13, 32912431: 32912431
511BRCA2NM_000059.3(BRCA2): c.3956_3959delATGA (p.Asn1319Lysfs)deletionPathogenicrs80359417GRCh37Chr 13, 32912448: 32912451
512BRCA2NM_000059.3(BRCA2): c.3958G> T (p.Glu1320Ter)single nucleotide variantPathogenicrs80358644GRCh37Chr 13, 32912450: 32912450
513BRCA2NM_000059.3(BRCA2): c.3967A> T (p.Lys1323Ter)single nucleotide variantPathogenicrs80358648GRCh37Chr 13, 32912459: 32912459
514BRCA2NM_000059.3(BRCA2): c.3975_3978dupTGCT (p.Ala1327Cysfs)duplicationPathogenicrs397515636GRCh37Chr 13, 32912467: 32912470
515BRCA2NM_000059.3(BRCA2): c.3G> A (p.Met1Ile)single nucleotide variantPathogenicrs80358650GRCh37Chr 13, 32890600: 32890600
516BRCA2NM_000059.3(BRCA2): c.4001T> A (p.Leu1334Ter)single nucleotide variantPathogenicrs80358652GRCh37Chr 13, 32912493: 32912493
517BRCA2NM_000059.3(BRCA2): c.4037_4038delCT (p.Thr1346Serfs)deletionPathogenicrs80359421GRCh37Chr 13, 32912529: 32912530
518BRCA2NM_000059.3(BRCA2): c.4048_4051delCATA (p.His1350Lysfs)deletionPathogenicrs80359423GRCh37Chr 13, 32912540: 32912543
519BRCA2NM_000059.3(BRCA2): c.4076delC (p.Thr1359Metfs)deletionPathogenicrs80359424GRCh37Chr 13, 32912568: 32912568
520BRCA2NM_000059.3(BRCA2): c.4095T> A (p.Cys1365Ter)single nucleotide variantPathogenicrs80358658GRCh37Chr 13, 32912587: 32912587
521BRCA2NM_000059.3(BRCA2): c.410delC (p.Ser137Phefs)deletionPathogenicrs80359427GRCh37Chr 13, 32899306: 32899306
522BRCA2NM_000059.3(BRCA2): c.4111C> T (p.Gln1371Ter)single nucleotide variantPathogenicrs80358659GRCh37Chr 13, 32912603: 32912603
523BRCA2NM_000059.3(BRCA2): c.4130delA (p.Asn1377Thrfs)deletionPathogenicrs80359428GRCh37Chr 13, 32912622: 32912622
524BRCA2NM_000059.3(BRCA2): c.4133_4136delCTCA (p.Thr1378Argfs)deletionPathogenicrs80359430GRCh37Chr 13, 32912625: 32912628
525BRCA2NM_000059.3(BRCA2): c.4137_4141delGATTA (p.Ile1380Argfs)deletionPathogenicrs80359431GRCh37Chr 13, 32912629: 32912633
526BRCA2NM_000059.3(BRCA2): c.4139_4140dupTT (p.Lys1381Leufs)duplicationPathogenicrs397507709GRCh37Chr 13, 32912632: 32912633
527BRCA2NM_000059.3(BRCA2): c.4169delT (p.Leu1390Trpfs)deletionPathogenicrs80359433GRCh37Chr 13, 32912661: 32912661
528BRCA2NM_000059.3(BRCA2): c.4188delA (p.Glu1397Lysfs)deletionPathogenicrs80359434GRCh37Chr 13, 32912680: 32912680
529BRCA2NM_000059.3(BRCA2): c.4218_4221delAGAA (p.Lys1406Asnfs)deletionPathogenicrs80359435GRCh37Chr 13, 32912710: 32912713
530BRCA2NM_000059.3(BRCA2): c.4258delG (p.Asp1420Ilefs)deletionPathogenicrs80359436GRCh37Chr 13, 32912750: 32912750
531BRCA2NM_000059.3(BRCA2): c.4271delC (p.Ser1424Leufs)deletionPathogenicrs80359437GRCh37Chr 13, 32912763: 32912763
532BRCA2NM_000059.3(BRCA2): c.4285C> T (p.Gln1429Ter)single nucleotide variantPathogenicrs80358665GRCh37Chr 13, 32912777: 32912777
533BRCA2NM_000059.3(BRCA2): c.4314delC (p.Ala1439Profs)deletionPathogenicrs80359441GRCh37Chr 13, 32912806: 32912806
534BRCA2NM_000059.3(BRCA2): c.4325C> A (p.Ser1442Ter)single nucleotide variantPathogenicrs80358670GRCh37Chr 13, 32912817: 32912817
535BRCA2NM_000059.3(BRCA2): c.4339delG (p.Val1447Terfs)deletionPathogenicrs80359443GRCh37Chr 13, 32912831: 32912831
536BRCA2NM_000059.3(BRCA2): c.4409_4410delTA (p.Ile1470Lysfs)deletionPathogenicrs80359446GRCh37Chr 13, 32912901: 32912902
537BRCA2NM_000059.3(BRCA2): c.4423delA (p.Met1475Trpfs)deletionPathogenicrs80359447GRCh37Chr 13, 32912915: 32912915
538BRCA2NM_000059.3(BRCA2): c.4456_4459delGTTA (p.Val1486Asnfs)deletionPathogenicrs80359450GRCh37Chr 13, 32912948: 32912951
539BRCA2NM_000059.3(BRCA2): c.4471_4474delCTGA (p.Leu1491Lysfs)deletionPathogenicrs80359451GRCh37Chr 13, 32912963: 32912966
540BRCA2NM_000059.3(BRCA2): c.4478_4481delAAAG (p.Glu1493Valfs)deletionPathogenicrs80359455GRCh37Chr 13, 32912970: 32912973
541BRCA2NM_000059.3(BRCA2): c.4525C> T (p.Gln1509Ter)single nucleotide variantPathogenicrs80358683GRCh37Chr 13, 32913017: 32913017
542BRCA2NM_000059.3(BRCA2): c.4546dupA (p.Ile1516Asnfs)duplicationPathogenicrs80359456GRCh37Chr 13, 32913038: 32913039
543BRCA2NM_000059.3(BRCA2): c.4551_4554delAGAA (p.Lys1517Asnfs)deletionPathogenicrs80359457GRCh37Chr 13, 32913043: 32913046
544BRCA2NM_000059.3(BRCA2): c.4554delA (p.Glu1518Aspfs)deletionPathogenicrs80359458GRCh37Chr 13, 32913046: 32913046
545BRCA2NM_000059.3(BRCA2): c.4588A> T (p.Lys1530Ter)single nucleotide variantPathogenicrs80358692GRCh37Chr 13, 32913080: 32913080
546BRCA2NM_000059.3(BRCA2): c.4593dupA (p.Val1532Serfs)duplicationPathogenicrs397507732GRCh37Chr 13, 32913085: 32913086
547BRCA2NM_000059.3(BRCA2): c.462_463delAA (p.Asp156Terfs)deletionPathogenicrs80359459GRCh37Chr 13, 32900274: 32900275
548BRCA2NM_000059.3(BRCA2): c.469_470delAA (p.Lys157Valfs)deletionPathogenicrs397507739GRCh37Chr 13, 32900281: 32900282
549BRCA2NM_000059.3(BRCA2): c.4708_4709delAG (p.Glu1571Glyfs)deletionPathogenicrs80359464GRCh37Chr 13, 32913200: 32913201
550BRCA2NM_000059.3(BRCA2): c.470_474delAGTCA (p.Lys157Serfs)deletionPathogenicrs80359463GRCh37Chr 13, 32900282: 32900286
551BRCA2NM_000059.3(BRCA2): c.4731_4736delATTAGCinsG (p.Leu1578Metfs)indelPathogenicrs276174846GRCh37Chr 13, 32913223: 32913228
552BRCA2NM_000059.3(BRCA2): c.4742_4743insTG (p.Glu1581Aspfs)insertionPathogenicrs276174847GRCh37Chr 13, 32913234: 32913235
553BRCA2NM_000059.3(BRCA2): c.475+1G> Asingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
554BRCA2NM_000059.3(BRCA2): c.475+1G> Tsingle nucleotide variantPathogenicrs81002797GRCh37Chr 13, 32900288: 32900288
555BRCA2NM_000059.3(BRCA2): c.475G> A (p.Val159Met)single nucleotide variantPathogenicrs80358702GRCh37Chr 13, 32900287: 32900287
556BRCA2NM_000059.3(BRCA2): c.4797delT (p.Asn1599Lysfs)deletionPathogenicrs80359465GRCh37Chr 13, 32913289: 32913289
557BRCA2NM_000059.3(BRCA2): c.4808dupA (p.Asn1603Lysfs)duplicationPathogenicrs80359466GRCh37Chr 13, 32913300: 32913301
558BRCA2NM_000059.3(BRCA2): c.4829_4830delTG (p.Val1610Glyfs)deletionPathogenicrs80359468GRCh37Chr 13, 32913321: 32913322
559BRCA2NM_000059.3(BRCA2): c.4845_4846delCT (p.Leu1616Lysfs)deletionPathogenicrs80359469GRCh37Chr 13, 32913337: 32913338
560BRCA2NM_000059.3(BRCA2): c.4859T> G (p.Leu1620Ter)single nucleotide variantPathogenicrs80358710GRCh37Chr 13, 32913351: 32913351
561BRCA2NM_000059.3(BRCA2): c.4889C> G (p.Ser1630Ter)single nucleotide variantPathogenicrs80358711GRCh37Chr 13, 32913381: 32913381
562BRCA2NM_000059.3(BRCA2): c.491T> A (p.Leu164Ter)single nucleotide variantPathogenicrs80358717GRCh37Chr 13, 32900394: 32900394
563BRCA2NM_000059.3(BRCA2): c.4933A> T (p.Lys1645Ter)single nucleotide variantPathogenicrs80358719GRCh37Chr 13, 32913425: 32913425
564BRCA2NM_000059.3(BRCA2): c.4935delA (p.Glu1646Lysfs)deletionPathogenicrs80359472GRCh37Chr 13, 32913427: 32913427
565BRCA2NM_000059.3(BRCA2): c.4940_4941delCA (p.Thr1647Serfs)deletionPathogenicrs397507751GRCh37Chr 13, 32913432: 32913433
566BRCA2NM_000059.3(BRCA2): c.4947_4948delAA (p.Pro1651Cysfs)deletionPathogenicrs80359474GRCh37Chr 13, 32913439: 32913440
567BRCA2NM_000059.3(BRCA2): c.4965C> A (p.Tyr1655Ter)single nucleotide variantPathogenicrs80358721GRCh37Chr 13, 32913457: 32913457
568BRCA2NM_000059.3(BRCA2): c.5065_5066delGCinsAAA (p.Ala1689Lysfs)indelPathogenicrs276174852GRCh37Chr 13, 32913557: 32913558
569BRCA2NM_000059.3(BRCA2): c.5073delA (p.Lys1691Asnfs)deletionPathogenicrs80359481GRCh37Chr 13, 32913565: 32913565
570BRCA2NM_000059.3(BRCA2): c.5107G> T (p.Glu1703Ter)single nucleotide variantPathogenicrs80358735GRCh37Chr 13, 32913599: 32913599
571BRCA2NM_000059.3(BRCA2): c.5116_5119delAATA (p.Asn1706Leufs)deletionPathogenicrs276174853GRCh37Chr 13, 32913608: 32913611
572BRCA2NM_000059.3(BRCA2): c.5130_5133delTGTA (p.Tyr1710Terfs)deletionPathogenicrs80359485GRCh37Chr 13, 32913622: 32913625
573BRCA2NM_000059.3(BRCA2): c.5131_5134delGTAG (p.Val1711Glufs)deletionPathogenicrs80359486GRCh37Chr 13, 32913623: 32913626
574BRCA2NM_000059.3(BRCA2): c.5141_5144delATTT (p.Tyr1714Cysfs)deletionPathogenicrs80359487GRCh37Chr 13, 32913633: 32913636
575BRCA2NM_000059.3(BRCA2): c.5157_5161delTTCAA (p.Asn1719Lysfs)deletionPathogenicrs80359488GRCh37Chr 13, 32913649: 32913653
576BRCA2NM_000059.3(BRCA2): c.5158dupT (p.Ser1720Phefs)duplicationPathogenicrs80359489GRCh37Chr 13, 32913650: 32913651
577BRCA2NM_000059.3(BRCA2): c.5159C> G (p.Ser1720Ter)single nucleotide variantPathogenicrs80358740GRCh37Chr 13, 32913651: 32913651
578BRCA2NM_000059.3(BRCA2): c.5164_5165delAG (p.Ser1722Tyrfs)deletionPathogenicrs80359490GRCh37Chr 13, 32913656: 32913657
579BRCA2NM_000059.3(BRCA2): c.517-1G> Asingle nucleotide variantPathogenicrs81002849GRCh37Chr 13, 32900635: 32900635
580BRCA2NM_000059.3(BRCA2): c.517-2A> Gsingle nucleotide variantPathogenicrs81002858GRCh37Chr 13, 32900634: 32900634
581BRCA2NM_000059.3(BRCA2): c.5180delA (p.Asn1727Metfs)deletionPathogenicrs80359491GRCh37Chr 13, 32913672: 32913672
582BRCA2NM_000059.3(BRCA2): c.51_52delAC (p.Arg18Leufs)deletionPathogenicrs80359483GRCh37Chr 13, 32890648: 32890649
583BRCA2NM_000059.3(BRCA2): c.5217T> A (p.Tyr1739Ter)single nucleotide variantPathogenicrs80358746GRCh37Chr 13, 32913709: 32913709
584BRCA2NM_000059.3(BRCA2): c.5217_5220delTTTA (p.Tyr1739Terfs)deletionPathogenicrs80359494GRCh37Chr 13, 32913709: 32913712
585BRCA2NM_000059.3(BRCA2): c.5217_5221delTTTAA (p.Tyr1739Terfs)deletionPathogenicrs80359495GRCh37Chr 13, 32913709: 32913713
586BRCA2NM_000059.3(BRCA2): c.5217_5223delTTTAAGT (p.Tyr1739Terfs)deletionPathogenicrs80359496GRCh37Chr 13, 32913709: 32913715
587BRCA2NM_000059.3(BRCA2): c.5217_5224delTTTAAGTA (p.Tyr1739Terfs)deletionPathogenicrs80359497GRCh37Chr 13, 32913709: 32913716
588BRCA2NM_000059.3(BRCA2): c.5279C> G (p.Ser1760Ter)single nucleotide variantPathogenicrs80358751GRCh37Chr 13, 32913771: 32913771
589BRCA2NM_000059.3(BRCA2): c.5286T> A (p.Tyr1762Ter)single nucleotide variantPathogenicrs80358754GRCh37Chr 13, 32913778: 32913778
590BRCA2NM_000059.3(BRCA2): c.5344C> T (p.Gln1782Ter)single nucleotide variantPathogenicrs80358757GRCh37Chr 13, 32913836: 32913836
591BRCA2NM_000059.3(BRCA2): c.5344_5345delCA (p.Gln1782Lysfs)deletionPathogenicrs80359506GRCh37Chr 13, 32913836: 32913837
592BRCA2NM_000059.3(BRCA2): c.538_539delAT (p.Ile180Phefs)deletionPathogenicrs80359510GRCh37Chr 13, 32900657: 32900658
593BRCA2NM_000059.3(BRCA2): c.539delT (p.Ser181Leufs)deletionPathogenicrs276174857GRCh37Chr 13, 32900658: 32900658
594BRCA2NM_000059.3(BRCA2): c.5404C> T (p.Gln1802Ter)single nucleotide variantPathogenicrs80358763GRCh37Chr 13, 32913896: 32913896
595BRCA2NM_000059.3(BRCA2): c.5428G> A (p.Val1810Ile)single nucleotide variantPathogenicrs80358766GRCh37Chr 13, 32913920: 32913920
596BRCA2NM_000059.3(BRCA2): c.5434G> T (p.Glu1812Ter)single nucleotide variantPathogenicrs80358767GRCh37Chr 13, 32913926: 32913926
597BRCA2NM_000059.3(BRCA2): c.5454delA (p.Cys1820Alafs)deletionPathogenicrs80359513GRCh37Chr 13, 32913946: 32913946
598BRCA2NM_000059.3(BRCA2): c.5466dupT (p.Lys1823Terfs)duplicationPathogenicrs80359514GRCh37Chr 13, 32913958: 32913959
599BRCA2NM_000059.3(BRCA2): c.5526delT (p.Ala1843Hisfs)deletionPathogenicrs80359518GRCh37Chr 13, 32914018: 32914018
600BRCA2NM_000059.3(BRCA2): c.5542delA (p.Ser1848Valfs)deletionPathogenicrs80359519GRCh37Chr 13, 32914034: 32914034
601BRCA2NM_000059.3(BRCA2): c.5569G> T (p.Glu1857Ter)single nucleotide variantPathogenicrs80358778GRCh37Chr 13, 32914061: 32914061
602BRCA2NM_000059.3(BRCA2): c.5577_5580de