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BC
MCID: BRS047
MIFTS: 97

Breast Cancer (BC)

Categories: Cancer diseases, Genetic diseases, Immune diseases, Rare diseases, Reproductive diseases, Skin diseases
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Aliases & Classifications for Breast Cancer

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MalaCards integrated aliases for Breast Cancer:

Name: Breast Cancer 57 11 42 75 73 12 53 41 2 14 63
Breast Carcinoma 11 42 73 28 53 5 14 16 71
Malignant Neoplasm of Breast 11 42 71 31
Breast Cancer, Familial 57 42 75 71
Male Breast Cancer 11 19 41 14
Breast Cancer, Susceptibility to 57 28 5
Breast Cancer, Early-Onset 57 28 5
Malignant Tumor of Breast 42 28 5
Carcinoma of Male Breast 28 5 71
Breast Cancer, Protection Against 57 5
Malignant Neoplasm of Male Breast 11 71
Invasive Ductal Breast Carcinoma 53 71
Breast Cancer, Lobular, Somatic 57 5
Breast Cancer, Invasive Ductal 57 5
Familial Cancer of Breast 28 5
Breast Cancer, Somatic 57 5
Male Breast Carcinoma 19 16
Breast Cancer, Male 57 19
Mammary Carcinoma 11 73
Mammary Cancer 11 42
Mammary Tumor 11 53
Breast Tumor 11 5
Infiltrating Ductular Carcinoma of Unspecified Site 33
Infiltrating Duct Carcinoma of Unspecified Site 33
Breast Cancer, Early-Onset, Susceptibility to 57
Invasive Breast Carcinoma of No Special Type 33
Infiltrating Ductal Carcinoma of Breast 33
Carcinoma with Apocrine Differentiation 33
Breast Cancer, Male, Susceptibility to 57
Primary Malignant Neoplasm of Breast 71
Microinvasive Carcinoma of Breast 33
Invasive Breast Ductal Carcinoma 16
Susceptibility to Breast Cancer 16
Cancer, Breast, Susceptibility 38
Malignant Tumor of the Breast 11
Breast Cancer Susceptibility 57
Breast Cancer, Familial Male 28
Breast Cancer Familial Male 73
Animal Mammary Neoplasms 71
Neoplasm of Male Breast 11
Familial Breast Cancer 19
Breast Cancer Familial 73
Breast Neoplasms, Male 43
Primary Breast Cancer 11
Breast Male Carcinoma 53
Breast Cancer in Men 19
Carcinoma of Breast 11
Mammary Carcinomas 14
Mammary Neoplasms 71
Mammary Neoplasm 11
Cancer of Breast 42
Breast Neoplasms 43
Breast Neoplasm 16
Mammary Tumors 14
Cancer, Breast 38
Bc 73

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 08-Dec-2022)
Miscellaneous:
genetic heterogeneity


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Cancer diseases
Anatomical: Reproductive diseases Skin diseases Immune diseases
See all MalaCards categories (disease lists)
ICD10: 31
ICD11: 33


External Ids:

Disease Ontology 11 DOID:1612 DOID:1614 DOID:3459
OMIM® 57 114480
NCIt 49 C4872 C9335
SNOMED-CT via HPO 69 254838004
UMLS 71 C0006142 C0024667 C0238033 more
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Summaries for Breast Cancer

About this section

MedlinePlus: 41 What is breast cancer? Breast cancer is a cancer that starts in breast tissue. It happens when cells in the breast change and grow out of control. The cells usually form a tumor. Sometimes the cancer does not spread any further. This is called "in situ." If the cancer spreads outside the breast, the cancer is called "invasive." It may just spread to nearby tissues and lymph nodes. Or the cancer may metastasize (spread to other parts of the body) through the lymph system or the blood. Breast cancer is the second most common type of cancer in women in the United States. Rarely, it can also affect men. What are the types of breast cancer? There are different types of breast cancer. The types are based on which breast cells turn into cancer. The types include: Ductal carcinoma, which begins in the cells of the ducts. This is the most common type. Lobular carcinoma, which begins in the lobules. It is more often found in both breasts than other types of breast cancer. Inflammatory breast cancer, in which cancer cells block lymph vessels in the skin of the breast. The breast becomes warm, red, and swollen. This is a rare type. Paget's disease of the breast, which is a cancer involving the skin of the nipple. It usually also affects the darker skin around the nipple. It is also rare. What causes breast cancer? Breast cancer happens when there are changes in the genetic material (DNA). Often, the exact cause of these genetic changes is unknown. But sometimes these genetic changes are inherited, meaning that you are born with them. Breast cancer that is caused by inherited genetic changes is called hereditary breast cancer. There are also certain genetic changes that can raise your risk of breast cancer, including changes in the BRCA1 and BRCA2 genes. These two changes also raise your risk of ovarian and other cancers. Besides genetics, your lifestyle and the environment can affect your risk of breast cancer. Who is at risk for breast cancer? The factors that raise your risk of breast cancer include: Older age History of breast cancer or benign (noncancer) breast disease Inherited risk of breast cancer, including having BRCA1 and BRCA2 gene changes Dense breast tissue A reproductive history that leads to more exposure to the estrogen hormone, including Menstruating at an early age Being at an older age when you first gave birth or never having given birth Starting menopause at a later age Taking hormone therapy for symptoms of menopause Radiation therapy to the breast or chest Obesity Drinking alcohol What are the signs and symptoms of breast cancer? The signs and symptoms of breast cancer include: A new lump or thickening in or near the breast or in the armpit. A change in the size or shape of the breast. A dimple or puckering in the skin of the breast. It may look like the skin of an orange. A nipple turned inward into the breast. Nipple discharge other than breast milk. The discharge might happen suddenly, be bloody, or happen in only one breast. Scaly, red, or swollen skin in the nipple area or the breast Pain in any area of the breast. How is breast cancer diagnosed? Your health care provider may use many tools to diagnose breast cancer and figure out which type you have: A physical exam, including a clinical breast exam (CBE). This involves checking for any lumps or anything else that seems unusual with the breasts and armpits. A medical history. Imaging tests, such as a mammogram, an ultrasound, or an MRI. Breast biopsy. Blood chemistry tests, which measure different substances in the blood, including electrolytes, fats, proteins, glucose (sugar), and enzymes. Some of the specific blood chemistry tests include a basic metabolic panel (BMP), a comprehensive metabolic panel (CMP), and an electrolyte panel. If these tests show that you have breast cancer, you will have tests that study the cancer cells. These tests help your provider decide which treatment would be best for you. The tests may include: Genetic tests for genetic changes such as in the BRCA and TP53 genes. HER2 test. HER2 is a protein involved with cell growth. It is on the outside of all breast cells. If your breast cancer cells have more HER2 than normal, they can grow more quickly and spread to other parts of the body. An estrogen and progesterone receptor test. This test measures the amount of estrogen and progesterone (hormones) receptors in cancer tissue. If there are more receptors than normal, the cancer is called estrogen and/or progesterone receptor positive. This type of breast cancer may grow more quickly. Another step is staging the cancer. Staging involves doing tests to find out whether the cancer has spread within the breast or to other parts of the body. The tests may include other diagnostic imaging tests and a sentinel lymph node biopsy. This biopsy is done to see whether the cancer has spread to the lymph nodes. What are the treatments for breast cancer? Treatments for breast cancer include: Surgery such as A mastectomy, which removes the whole breast A lumpectomy to remove the cancer and some normal tissue around it, but not the breast itself Radiation therapy Chemotherapy Hormone therapy, which blocks cancer cells from getting the hormones they need to grow Targeted therapy, which uses drugs or other substances that attack specific cancer cells with less harm to normal cells Immunotherapy Can breast cancer be prevented? You may be able to help prevent breast cancer by making healthy lifestyle changes such as: Staying at a healthy weight Limiting alcohol use Getting enough exercisee Limiting your exposure to estrogen by Breastfeeding your babies if you can Limiting hormone therapy If you are at high risk, your health care provider may suggest that you take certain medicines to lower the risk. Some women at very high risk may decide to get a mastectomy (of their healthy breasts) to prevent breast cancer. It's also important to get regular mammograms. They may be able to identify breast cancer in the early stages, when it is easier to treat. NIH: National Cancer Institute

MalaCards based summary: Breast Cancer, also known as breast carcinoma, is related to ovarian cancer and hereditary breast ovarian cancer syndrome, and has symptoms including pain, lameness, animal and pelvic pain. An important gene associated with Breast Cancer is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are Gene expression (Transcription) and ERK Signaling. The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include breast, lymph node and prostate, and related phenotypes are breast carcinoma and Decreased viability

MedlinePlus Genetics: 42 Breast cancer is a disease in which certain cells in the breast become abnormal and multiply uncontrollably to form a tumor. Although breast cancer is much more common in women, this form of cancer can also develop in men. In both women and men, the most common form of breast cancer begins in cells lining the milk ducts (ductal cancer). In women, cancer can also develop in the glands that produce milk (lobular cancer). Most men have little or no lobular tissue, so lobular cancer in men is very rare. In its early stages, breast cancer usually does not cause pain and may exhibit no noticeable symptoms. As the cancer progresses, signs and symptoms can include a lump or thickening in or near the breast; a change in the size or shape of the breast; nipple discharge, tenderness, or retraction (turning inward); and skin irritation, dimpling, redness, or scaliness. However, these changes can occur as part of many different conditions. Having one or more of these symptoms does not mean that a person definitely has breast cancer.In some cases, cancerous cells can invade surrounding breast tissue. In these cases, the condition is known as invasive breast cancer. Sometimes, tumors spread to other parts of the body. If breast cancer spreads, cancerous cells most often appear in the bones, liver, lungs, or brain. Tumors that begin at one site and then spread to other areas of the body are called metastatic cancers.A small percentage of all breast cancers cluster in families. These cancers are described as hereditary and are associated with inherited gene mutations. Hereditary breast cancers tend to develop earlier in life than noninherited (sporadic) cases, and new (primary) tumors are more likely to develop in both breasts.

CDC: 2 Breast cancer is a disease in which cells in the breast grow out of control. There are different kinds of breast cancer. The kind of breast cancer depends on which cells in the breast turn into cancer. Breast cancer can begin in different parts of the breast. A breast is made up of three main parts: lobules, ducts, and connective tissue. The lobules are the glands that produce milk. The ducts are tubes that carry milk to the nipple. The connective tissue (which consists of fibrous and fatty tissue) surrounds and holds everything together. Most breast cancers begin in the ducts or lobules. Breast cancer can spread outside the breast through blood vessels and lymph vessels. When breast cancer spreads to other parts of the body, it is said to have metastasized.

Novus Biologicals: 54 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.

PubMed Health : 63 Breast cancer: Being diagnosed with breast cancer often comes as a shock at first, and makes people feel very frightened and anxious. Having cancer can really turn your life upside down for a while. It helps to know that if you get breast cancer for the first time and it hasn’t spread far, there’s a good chance that treatment can lead to full recovery. There are also many support services that help people in everyday life, to return to work and cope emotionally with breast cancer.

UniProtKB/Swiss-Prot: 73 A common malignancy originating from breast epithelial tissue. Breast neoplasms can be distinguished by their histologic pattern. Invasive ductal carcinoma is by far the most common type. Breast cancer is etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. Mutations at more than one locus can be involved in different families or even in the same case.

OMIM®: 57 Breast cancer (referring to mammary carcinoma, not mammary sarcoma) is histopathologically and almost certainly etiologically and genetically heterogeneous. Important genetic factors have been indicated by familial occurrence and bilateral involvement. (114480) (Updated 08-Dec-2022)

GARD: 19 A rare malignant tumor of the breast, affecting mostly older men. It accounts for less than 1% of all malignancies in men. The most common histologic type is invasive ductal carcinoma. Most patients are treated with mastectomy. -- 2004

Disease Ontology 11 Breast cancer: A thoracic cancer that originates in the mammary gland.

Male breast cancer: A breast cancer that occurs in males.

Breast carcinoma: A breast cancer that has material basis in abnormally proliferating cells derives from epithelial cells.

Wikipedia 75 Breast cancer: Breast cancer is cancer that develops from breast tissue. Signs of breast cancer may include a lump in... more...

Breast cancer, familial: Hereditary breast-ovarian cancer syndromes (HBOC) are cancer syndromes that produce higher than normal... more...
Sources

Related Diseases for Breast Cancer

About this section

Diseases in the Breast Cancer family:

Inflammatory Breast Carcinoma Sporadic Breast Cancer
Breast Carcinoma in Situ Hereditary Breast Cancer

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

(show top 50) (show all 2956)
# Related Disease Score Top Affiliating Genes
1 ovarian cancer 35.2 TP53 RAD51 PPM1D PIK3CA PALB2 NBN
2 hereditary breast ovarian cancer syndrome 35.1 XRCC3 TP53 RAD54L RAD51 PIK3CA PALB2
3 diffuse gastric and lobular breast cancer syndrome 34.9 BRCA2 BRCA1 BARD1 ATM TP53 PIK3CA
4 li-fraumeni syndrome 34.9 TP53 RAD51 PPM1D PIK3CA PALB2 KRAS
5 bilateral breast cancer 34.8 TP53 RAD51 PALB2 ESR1 CHEK2 CDH1
6 hereditary breast cancer 34.6 SLC22A18 RAD54L PPM1D PALB2 CHEK2 CDH1
7 sporadic breast cancer 34.5 TP53 RAD51 PALB2 ESR1 CHEK2 BRIP1
8 bap1 tumor predisposition syndrome 34.5 TP53 PALB2 NBN CHEK2 CDH1 BRIP1
9 estrogen-receptor positive breast cancer 34.3 TP53 PIK3CA ESR1 BRCA2 BRCA1 AKT1
10 lung cancer 34.2 XRCC3 TP53 SLC22A18 RAD51 PIK3CA PALB2
11 ductal carcinoma in situ 34.2 TP53 PIK3CA ESR1 CDH1 BRCA2 BRCA1
12 colorectal cancer 34.2 XRCC3 TP53 RAD51 PIK3CA PALB2 NBN
13 estrogen-receptor negative breast cancer 34.1 TP53 ESR1 CDH1 BRCA2 BRCA1 AKT1
14 inherited cancer-predisposing syndrome 34.0 TP53 PALB2 NBN CHEK2 CDH1 BRIP1
15 breast-ovarian cancer, familial 1 34.0 PALB2 NBN BRIP1 BRCA2 BRCA1
16 female breast cancer 34.0 TP53 ESR1 BRCA2 BRCA1
17 endometrial cancer 33.9 TP53 RAD51 PIK3CA KRAS ESR1 CDH1
18 gastric cancer 33.9 TP53 PIK3CA KRAS ESR1 CHEK2 CDH1
19 breast adenocarcinoma 33.9 TP53 SLC22A18 RB1CC1 PIK3CA KRAS ESR1
20 lynch syndrome 33.8 TP53 RAD51 PIK3CA PALB2 KRAS ESR1
21 adenocarcinoma 33.8 TP53 PIK3CA KRAS CDH1 BRCA2 ATM
22 fanconi anemia, complementation group a 33.7 XRCC3 TP53 RAD54L RAD51 PALB2 NBN
23 breast carcinoma in situ 33.7 TP53 PIK3CA ESR1 CDH1 BRCA2 BRCA1
24 leukemia, acute myeloid 33.7 TP53 RAD51 PIK3CA KRAS ESR1 CHEK2
25 cowden syndrome 33.7 TP53 RAD51 PIK3CA PALB2 KRAS ESR1
26 pancreatic cancer 33.6 TP53 RAD51 PIK3CA PALB2 NBN KRAS
27 prostate cancer 33.6 TP53 RAD51 PIK3CA NBN ESR1 CHEK2
28 premature menopause 33.5 TP53 RAD54L NBN ESR1 CHEK2 BRCA2
29 peripheral nervous system disease 33.4 TP53 KRAS ESR1 CDH1 BRCA1 ATM
30 ataxia-telangiectasia 33.4 TP53 RAD51 NBN CHEK2 BRCA2 BRCA1
31 breast ductal carcinoma 33.4 TP53 RAD54L ESR1 CDH1 BRCA2 BRCA1
32 hypertrophy of breast 33.4 TP53 PIK3CA ESR1 CHEK2 BRCA2 BRCA1
33 breast-ovarian cancer, familial 2 33.3 BRCA2 BRCA1
34 wilms tumor 1 33.2 TP53 SLC22A18 PALB2 KRAS ESR1 CHEK2
35 lobular neoplasia 33.2 TP53 PIK3CA PALB2 ESR1 CDH1 BRCA2
36 aplastic anemia 33.2 XRCC3 TP53 RAD51 PALB2 NBN CHEK2
37 breast disease 33.2 TP53 ESR1 BRCA2 BRCA1
38 colonic benign neoplasm 33.2 TP53 PIK3CA PALB2 KRAS ESR1 CHEK2
39 deficiency anemia 33.1 TP53 RAD51 PALB2 BRIP1 BRCA2 BRCA1
40 esophageal cancer 33.1 TP53 PIK3CA KRAS ESR1 CHEK2 CDH1
41 breast metaplastic carcinoma 33.1 TP53 ESR1
42 comedo carcinoma 33.1 TP53 ESR1 BRCA2
43 ovarian cancer 1 33.0 PALB2 NBN BRIP1 BRCA2 BRCA1
44 diffuse gastric cancer 33.0 TP53 PIK3CA PALB2 KRAS CHEK2 CDH1
45 xeroderma pigmentosum, variant type 33.0 XRCC3 TP53 RAD54L RAD51 NBN CHEK2
46 breast lobular carcinoma 33.0 TP53 PIK3CA PALB2 ESR1 CDH1 BRCA2
47 cowden syndrome 1 32.9 TP53 PIK3CA PALB2 CHEK2 BRCA2 BRCA1
48 glioblastoma 32.9 TP53 PIK3CA KRAS CDH1 BRCA2 BRCA1
49 rhabdomyosarcoma 32.9 TP53 SLC22A18 PIK3CA KRAS ESR1 CHEK2
50 breast fibroadenoma 32.9 TP53 ESR1 BRCA2 BRCA1

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



Diseases related to Breast Cancer
Sources

Symptoms & Phenotypes for Breast Cancer

About this section

Human phenotypes related to Breast Cancer:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 breast carcinoma 30 HP:0003002

Symptoms via clinical synopsis from OMIM®:

57 (Updated 08-Dec-2022)
Neoplasia:
breast carcinoma

Clinical features from OMIM®:

114480 (Updated 08-Dec-2022)

UMLS symptoms related to Breast Cancer:


pain; lameness, animal; pelvic pain

GenomeRNAi Phenotypes related to Breast Cancer according to GeneCards Suite gene sharing:

25 (show top 50) (show all 55)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 11.08 KRAS PIK3CA
2 Decreased viability GR00055-A-2 11.08 KRAS PIK3CA
3 Decreased viability GR00055-A-3 11.08 KRAS
4 Decreased viability GR00106-A-0 11.08 KRAS
5 Decreased viability GR00221-A-1 11.08 AKT1 CDH1 ESR1 KRAS PIK3CA
6 Decreased viability GR00221-A-2 11.08 AKT1 ESR1 KRAS PIK3CA CHEK2 BRCA1
7 Decreased viability GR00221-A-3 11.08 AKT1 ATM CHEK2 BRCA1
8 Decreased viability GR00221-A-4 11.08 AKT1 ESR1 PIK3CA ATM CHEK2
9 Decreased viability GR00249-S 11.08 AKT1
10 Decreased viability GR00301-A 11.08 CDH1 KRAS BRCA1
11 Decreased viability GR00342-S-2 11.08 CHEK2
12 Decreased viability GR00381-A-1 11.08 KRAS
13 Decreased viability GR00386-A-1 11.08 ESR1
14 Decreased viability GR00402-S-2 11.08 CDH1 ESR1 PIK3CA
15 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 10.77 BARD1 BRCA1 BRCA2 NBN PALB2 RAD54L
16 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 10.77 ATM BRCA1 BRCA2 BRIP1 PALB2 PPM1D
17 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 10.77 ATM BARD1 BRCA1 BRCA2 CHEK2 NBN
18 Decreased homologous recombination repair frequency GR00151-A-1 10.37 BARD1 BRCA1 RAD51
19 Decreased homologous recombination repair frequency GR00151-A-2 10.37 BRCA1 RAD51
20 Decreased homologous recombination repair frequency GR00236-A-1 10.37 BARD1 BRCA1 BRCA2 PALB2 RAD51
21 Decreased homologous recombination repair frequency GR00236-A-2 10.37 BARD1 BRCA1 BRCA2 PALB2 RAD51
22 Decreased homologous recombination repair frequency GR00236-A-3 10.37 BARD1 BRCA1 BRCA2 PALB2 RAD51
23 no effect GR00402-S-1 10.14 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
24 no effect GR00402-S-2 10.14 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
25 Increased shRNA abundance (Z-score > 2) GR00366-A-1 10.1 CHEK2
26 Increased shRNA abundance (Z-score > 2) GR00366-A-10 10.1 RB1CC1
27 Increased shRNA abundance (Z-score > 2) GR00366-A-112 10.1 CHEK2
28 Increased shRNA abundance (Z-score > 2) GR00366-A-114 10.1 CHEK2
29 Increased shRNA abundance (Z-score > 2) GR00366-A-12 10.1 TP53
30 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.1 CHEK2 KRAS RB1CC1 TP53
31 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.1 CHEK2
32 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.1 TP53
33 Increased shRNA abundance (Z-score > 2) GR00366-A-142 10.1 CHEK2
34 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.1 TP53
35 Increased shRNA abundance (Z-score > 2) GR00366-A-171 10.1 RB1CC1
36 Increased shRNA abundance (Z-score > 2) GR00366-A-179 10.1 RB1CC1
37 Increased shRNA abundance (Z-score > 2) GR00366-A-184 10.1 TP53
38 Increased shRNA abundance (Z-score > 2) GR00366-A-19 10.1 TP53
39 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.1 TP53
40 Increased shRNA abundance (Z-score > 2) GR00366-A-20 10.1 TP53
41 Increased shRNA abundance (Z-score > 2) GR00366-A-22 10.1 KRAS
42 Increased shRNA abundance (Z-score > 2) GR00366-A-35 10.1 TP53
43 Increased shRNA abundance (Z-score > 2) GR00366-A-37 10.1 RB1CC1
44 Increased shRNA abundance (Z-score > 2) GR00366-A-39 10.1 TP53
45 Increased shRNA abundance (Z-score > 2) GR00366-A-59 10.1 RB1CC1
46 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.1 CHEK2
47 Increased shRNA abundance (Z-score > 2) GR00366-A-62 10.1 TP53
48 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.1 KRAS
49 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.1 CHEK2
50 Synthetic lethal with cisplatin GR00101-A-1 9.91 BARD1 BRCA1 BRCA2 BRIP1 RAD51 XRCC3

MGI Mouse Phenotypes related to Breast Cancer:

45 (show all 16)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.46 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
2 neoplasm MP:0002006 10.43 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
3 growth/size/body region MP:0005378 10.42 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
4 nervous system MP:0003631 10.38 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
5 cellular MP:0005384 10.36 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
6 endocrine/exocrine gland MP:0005379 10.35 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
7 embryo MP:0005380 10.33 AKT1 ATM BARD1 BRCA1 BRCA2 CDH1
8 normal MP:0002873 10.2 AKT1 BARD1 BRCA1 BRCA2 CDH1 ESR1
9 immune system MP:0005387 10.17 AKT1 ATM BRCA1 BRCA2 CDH1 CHEK2
10 muscle MP:0005369 10.13 AKT1 BRCA1 ESR1 KRAS NBN PIK3CA
11 reproductive system MP:0005389 10.13 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
12 cardiovascular system MP:0005385 10.11 AKT1 ATM BRCA1 CDH1 CHEK2 ESR1
13 digestive/alimentary MP:0005381 10.03 BRCA1 BRCA2 CDH1 ESR1 KRAS PIK3CA
14 hematopoietic system MP:0005397 10 AKT1 ATM BRCA1 BRCA2 BRIP1 CHEK2
15 mortality/aging MP:0010768 9.91 AKT1 ATM BARD1 BRCA1 BRCA2 CDH1
16 integument MP:0010771 9.4 AKT1 ATM BRCA1 BRCA2 CDH1 ESR1
Sources

Drugs & Therapeutics for Breast Cancer

About this section

PubMed Health treatment related to Breast Cancer: 63

The treatment options always depend on the type and size of the tumor , where it has spread to (if it has spread), the patient’s general health, as well as their personal preferences. Breast cancer can be treated with surgery , radiation and medication. Different treatment approaches are often combined. The standard treatment is to try to surgically remove as much of the tumor as possible. Neighboring lymph nodes are sometimes also removed. If the tumor is small, women are often faced with a decision: Should they keep the breast or have it completely removed? Nowadays many women can have surgery that allows them to keep the breast (breast-conserving surgery). But sometimes the entire breast needs to be removed (mastectomy ) to make sure that all of the tumor tissue has gone. Chemotherapy (treatment with medication) is sometimes used to shrink larger tumors before surgery and make it easier to operate on them. This kind of treatment is called “neoadjuvant chemotherapy.” Chemotherapy is sometimes used after surgery too. Women who have a hormone -sensitive tumor may have anti-hormonal therapy . This aims to slow down tumor growth. After breast -conserving surgery the surrounding tissue is exposed to radiation, if possible, so that any remaining tumor cells can be destroyed. This is sometimes necessary after a mastectomy as well. Radiotherapy is also commonly used if the tumor cannot be surgically removed. The different types of treatment can be very difficult to go through and sometimes have very severe side effects or cause other medical problems. The side effects vary depending on the kind of treatment, but they are often easy to treat. The treatment of side effects is part of what is known as supportive care. Before deciding on whether to have a particular treatment , there is usually enough time to get information from your doctor about the possible benefits and the expected side effects, and to talk with your family or other people who are close to you. You have the right to seek a second opinion from another doctor or to decide not to have a treatment.

Drugs for Breast Cancer (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 1098)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Prednisolone phosphate Approved, Vet_approved Phase 4 302-25-0
2
Prednisolone acetate Approved, Vet_approved Phase 4 52-21-1
3
Prednisolone Approved, Vet_approved Phase 4 50-24-8 4894 5755
4
Methylprednisolone hemisuccinate Approved Phase 4 2921-57-5 1875
5
Methylprednisolone Approved, Vet_approved Phase 4 83-43-2 4159 6741
6
Iron Approved Phase 4 7439-89-6 29936
7
Acetylcholine Approved, Investigational Phase 4 51-84-3 187
8
Everolimus Approved Phase 4 159351-69-6 70789204 6442177
9
Triamcinolone Approved, Vet_approved Phase 4 124-94-7 31307
10
Ondansetron Approved, Withdrawn Phase 4 99614-02-5 4595
11
Acetaminophen Approved Phase 4 103-90-2 1983
12
Aprepitant Approved, Investigational Phase 4 170729-80-3 6918365 135413536
13
Crofelemer Approved Phase 4 33507-63-0, 148465-45-6 36511 44359816
14
Fosaprepitant Approved Phase 4 172673-20-0 219090 135413538
15
Ketamine Approved, Vet_approved Phase 4 6740-88-1, 1867-66-9 3821
16
Risedronic acid Approved, Investigational Phase 4 105462-24-6 5245
17
Lactulose Approved Phase 4 4618-18-2 11333
18
Triclosan Approved, Investigational Phase 4 3380-34-5 5564
19
Povidone-iodine Approved Phase 4 25655-41-8
20
Rocuronium Approved Phase 4 119302-91-9, 143558-00-3 441290
21
Ampicillin Approved, Vet_approved Phase 4 69-53-4 6249
22
Sultamicillin Approved, Investigational Phase 4 76497-13-7 2175
23
Sulbactam Approved Phase 4 68373-14-8 5316
24
Nitrous oxide Approved, Vet_approved Phase 4 10024-97-2 948
25
Ciprofloxacin Approved, Investigational Phase 4 85721-33-1, 93107-08-5 2764
26
Metoclopramide Approved, Investigational Phase 4 364-62-5 4168
27
Oxycodone Approved, Illicit, Investigational Phase 4 76-42-6 5284603
28
Tropisetron Approved, Investigational Phase 4 105826-92-4, 89565-68-4 656665
29
Domperidone Approved, Investigational, Vet_approved Phase 4 57808-66-9 3151
30
Haloperidol Approved Phase 4 52-86-8 3559
31
Droperidol Approved, Vet_approved Phase 4 548-73-2 3168
32
Tranexamic acid Approved Phase 4 1197-18-8 5526
33
Desflurane Approved Phase 4 57041-67-5 42113
34
Succinylcholine Approved Phase 4 306-40-1, 71-27-2 5314
35
Isoflurane Approved, Vet_approved Phase 4 26675-46-7 3763
36
Denosumab Approved Phase 4 615258-40-7
37
Zoledronic acid Approved Phase 4 118072-93-8 68740
38
Lactitol Approved, Investigational Phase 4 585-86-4 157355
39
Propofol Approved, Investigational, Vet_approved Phase 4 2078-54-8 4943
40
Pamidronic acid Approved Phase 4 40391-99-9 4674
41
Esketamine Approved, Investigational Phase 4 33643-46-8 182137
42
Dimenhydrinate Approved Phase 4 523-87-5 10660
43
Sevoflurane Approved, Vet_approved Phase 4 28523-86-6 5206
44
Thrombin Approved, Investigational Phase 4
45
Granisetron Approved, Investigational Phase 4 109889-09-0 3510 5284566
46
Tioguanine Approved Phase 4 154-42-7 2723601
47
Betamethasone Approved, Vet_approved Phase 4 378-44-9 9782
48
Follitropin Approved, Vet_approved Phase 4 97048-13-0, 146479-72-3, 9002-68-0 62819
49
Angiotensin II Approved, Investigational Phase 4 68521-88-0, 11128-99-7, 4474-91-3 172198
50
Valsartan Approved, Investigational Phase 4 137862-53-4 60846

Interventional clinical trials:

(show top 50) (show all 11846)
# Name Status NCT ID Phase Drugs
1 Comparison Between Intradermal Injection and Subcutaneous Injection With Methylene Blue for Sentinel Lymph Node Biopsy for Breast Cancer Patients Unknown status NCT02982148 Phase 4
2 Neoadjuvant Epirubicin-cyclophosphamide-S-1 (ECS) Versus Epirubicin-cyclophosphamide-5-FU (ECF) in Local Advanced Breast Cancer Unknown status NCT01849380 Phase 4 S-1;5-FU
3 A Randomized, Parallel, Double-blind, Placebo-controlled, Pilot Clinical Study on the Effects of Yunzhi as Dietary Supplement in 60 Adult Patients Undergoing Adjuvant/Neoadjuvant Chemotherapy for Breast Cancer. Unknown status NCT00647075 Phase 4
4 Effect of Perioperative Low Dose Ketamine on Postoperative Recovery in Patients Undergoing Breast Cancer Surgery Unknown status NCT03676114 Phase 4 ketamine;Normal saline
5 Use of Proton MR Spectroscopy and 18F-Fluorocholine PET for Breast Cancer Diagnosis, Prediction of Clinical Outcome and Monitoring of Treatment Response to Neoadjuvant Chemotherapy Unknown status NCT01956409 Phase 4 18F-FCH;Magnevist
6 A Randomized, Phase IV Trial of Individualized Care Versus Standard Care, in the Prevention of Chemotherapy Induced Nausea and Vomiting in Breast Cancer Patients. The EPIC Study Unknown status NCT01913990 Phase 4 Dexamethasone, Ondansetron, Aprepitant
7 Clinical Trial of Nanoparticle Albumin-Bound Paclitaxel Combined With Carboplatin as Neoadjuvant Chemotherapy in Luminal B/HER-2 Negative Breast Cancer Unknown status NCT03799692 Phase 4 Chemotherapy
8 Nanoparticle Albumin-Bound Paclitaxel Followed by Dose-Intensive Epirubicin in Combination With Cyclophosphamide as Neoadjuvant Chemotherapy in Triple Negative Breast Cancer Unknown status NCT03799679 Phase 4 Chemotherapeutic Agent
9 Selective Lymph Node Dissection Using Fluorescent Dye in Node-positive Breast Cancer Unknown status NCT02781259 Phase 4 Indocyanine green
10 An Exploratory Prospective, Open-label, Unicentric Study With Cross-over Design, Comparing Lymphoseek® vs. Albumin Nanocolloid for Image- Guided Sentinel Lymph Node Mapping in Head and Neck, Melanoma and Breast Cancer. Unknown status NCT04261179 Phase 4 Lymphoseek;Nanocoll
11 Nab-paclitaxel Compared With Docetaxel Followed by Anthracyclines and Cyclophosphamide in the Neoadjuvant Breast Cancer Unknown status NCT04182568 Phase 4 nab-paclitaxel followed by anthracycline and cyclophosphamide;Docetaxel followed by anthracycline and cyclophosphamide
12 Use of Integrated PET/MR to Evaluate Clinical Staging and Monitor Treatment Response of Neoadjuvant Chemotherapy for Breast Cancer Patients: A Pilot Study Unknown status NCT02766530 Phase 4
13 Weekly and Every 3 Week Administration of Paclitaxel Liposome Injection in Metastatic Breast Cancer Unknown status NCT02142790 Phase 4 paclitaxel liposome injection
14 Open Labeled, Propective, Multicentric Phase IV Study to Examine the Influence of Pharmacogenetic Markers on the Efficacy and Side Effects in Postmenopausal, Steroid Hormone Positive Breast Cancer Patients, Who Are Treated With Letrozol. Unknown status NCT01908556 Phase 4 Letrozole
15 Evaluation of Adjuvant Endocrine Therapy for Operable ER-beta Positive, ER-alpha/PR Negative, Her-2 Negative Breast Cancer Patients Unknown status NCT02089854 Phase 4 Toremifene; Anastrozole
16 Prospective Multicenter Study of the Role of Positron Emission Mammography (PEM) in Pre-Surgical Planning for Breast Cancer Unknown status NCT00484614 Phase 4
17 A Randomized Controlled Double-blinded Study Comparing the Intraoperative Injection of Lymphatic Mapping Agents Tc 99m Tilmanocept to Tc 99m Filtered Sulfur Colloid in Breast Cancer Patients Undergoing Breast Conservation and Sentinel Lymph Node Biopsy Unknown status NCT03199560 Phase 4 Tc 99m tilmanocept;Tc 99m filtered sulfur colloid
18 The Efficacy and Safety of Neoadjuvant Pegylated Liposomal Doxorubicin Plus Cyclophosphamide Followed by Docetaxel in Breast Cancer Patients: A Multicentric, Open-label, Non-randomized Concurrent Control, Non-inferiority Trial Unknown status NCT03123770 Phase 4 Pegylated liposomal doxorubicin;Cyclophosphamide;Epirubicin;Docetaxel
19 Hormone Therapy Initiation Immediately After Histological Diagnosis of Breast Cancer, Can it Make Any Difference? Unknown status NCT03111615 Phase 4 Aromatase Inhibitors
20 Effects of Cimicifuga Racemosa L. Nutt Sexuality of Women With Breast Cancer Using Tamoxifen or Aromatase Inhibitor Unknown status NCT02467686 Phase 4 Cimicifuga racemosa;tamoxifen;exemestane
21 G-CSF (Filgrastim) or Pegfilgrastim Secondary Prophylaxis In The Adjuvant Chemotherapy Of Early Breast Cancer Unknown status NCT00030758 Phase 4
22 A Clinical Trial of Paclitaxel Loaded Polymeric Micelle (Genexol-PM®) in Patients With Taxane-Pretreated Recurrent Breast Cancer Unknown status NCT00912639 Phase 4 Paclitaxel loaded Polymeric micelle
23 Role of Fulvestrant in The Treatment of Metastatic Breast Cancer in Premenopausal Women Unknown status NCT03591549 Phase 4 Faslodex;Zoladex
24 The Effects of Omega-3 Fatty Acids on Chemotherapy-induced Neuropathy and Inflammation in Patients With Breast Cancer Unknown status NCT01049295 Phase 4
25 Pilot for a Randomised Comparison of Anastrozole Commenced Before and Continued During Adjuvant Radiotherapy for Breast Cancer Versus Anastrozole and Subsequent Ant-Oestrogen Therapy Delayed Until After Radiotherapy Unknown status NCT00126360 Phase 4 Timing of Anastrozole in respect to radiotherapy
26 Accuracy of Magnetic Resonance Imaging (MRI) in Predicting Aggressiveness of Early Breast Cancer According to Molecular Subtypes Identified by ER PR and HER-2 Status Unknown status NCT01597999 Phase 4
27 A Phase IV, Multi-center, Open Label, Single Arm Clinical Trial to Evaluate the Relationship of Bone Remodeling Markers for Skeletal Complications in Metastatic Breast Cancer Patients Unknown status NCT00912938 Phase 4 zoledronic acid
28 Evaluate Efficacy and Safety of Extended Adjuvant Treatment With Letrozole in Postmenopausal Women With Hormone Receptor Positive Breast Cancer Who Have Completed 5 Years of Toremifene Unknown status NCT01072318 Phase 4 Letrozole
29 A Clinical Study of the Effects of Cyclodynon® Compared With a Control Group on Reducing the Cumulative Risk of Breast Cancer Development in a Female Population Aged 40-52 Years With Mastodynia and BI-RADS Category 3 Unknown status NCT04498013 Phase 4 Cyclodynon
30 The Efficacy and Safety of Doxorubicin Hydrochloride Liposome Injection Plus Cyclophosphamide Compared to Pirarubicin Plus Cyclophosphamide as Neoadjuvant Chemotherapy in Locally Advanced Breast Cancer ：a Randomised Multicentre, Open-label Trial Unknown status NCT02903524 Phase 4 Doxorubicin Hydrochloride Liposome injection and cyclophosphamide;pirarubicin and cyclophosphamide
31 A Randomized Prospective Clinical Trial of Paclitaxel in Combination With Carboplatin Versus Paclitaxel Plus Epirubicin as First-Line Treatment in Metastatic Breast Cancer Unknown status NCT02207361 Phase 4 Paclitaxel, Carboplatin;Paclitaxel, Epirubicin
32 Prospective, Randomized Clinical Trial Comparing Pain Sensation, Seroma Formation and Quality od Life Following BCT With SLND in Breast Cancer Patients Operated With Classic Versus High-frequency Electrocoagulation. Unknown status NCT01216254 Phase 4
33 Contrast The Role of Microfibrillar Collagen Hemostat Flour（Avitene） And OK-432 （Sapylin）in Reducing Seroma Formation After Axillary Lymphadenectomy for Breast Cancer Unknown status NCT02158299 Phase 4 Avitene;Sapylin
34 Optimal Timing and Duration of Daily G-CSF With Adjuvant TAC Chemotherapy in Node-positive Breast Cancer;Multicenter, Randomized, Open Label, Clinically IV Phase Unknown status NCT01571518 Phase 4 late leukostim;early leukostim
35 Effects of Bromelain and Boswellia Serrata Casperome With Centella Asiatica and Thiamine, Riboflavin, Pyridoxine, Vitamin D, Superoxide Dismutase on Edema, Paresthesia and Postoperative Pain After Quadrantectomy With or Without Sentinel Lymph Node Biopsy: Blinded Randomized Controlled Study Unknown status NCT04669119 Phase 4
36 National Screening i Danmark Med MR-scanning af Brystet Kontra Klinisk Mammografi Hos Kvinder Der er bærere af Risikogivende BRCA1 Eller BRCA2 Mutationer Unknown status NCT00413491 Phase 4
37 The Ultrasound-guided Multiple-injection Costotransverse Block for Mastectomy and Primary Reconstructive Surgery. A Double Blind, Randomised, Placebo Controlled Trial. Unknown status NCT04248179 Phase 4 Ropivacaine injection;Saline 0.9%;Sufentanil and PONV prophylaxis
38 The Analgesic Efficacy of the Pectoral Nerves Block Versus Local Anesthetic Infiltration After Mastectomy: a Randomized, Controlled, Double Blinded Trial Unknown status NCT04116021 Phase 4
39 Digital Breast Tomosynthesis Versus Digital Mammography in a Population-based Screening Program. A Controlled Randomized Multicenter Trial Unknown status NCT02590315 Phase 4
40 Multi-centre Clinical Trial on Hormone Replacement Treatment in China Unknown status NCT01698164 Phase 4 estradiol plus MPA;Ximingting Tablet;estradiol plus progesterone
41 Efficacy of Transdermal Fentanyl Patches in Relief of Acute Postoperative Pain After Mastectomy Unknown status NCT03051503 Phase 4 The Transdermal Therapeutic System-Fentanyl (TTS-F)
42 Integrative Diagnosis of 18F-FLT Positron Emission Tomography and Magnetic Resonance Imaging to Evaluate the Suspicious Findings on Mammography and Breast Ultrasound: a Pilot Study Unknown status NCT01956890 Phase 4 PET
43 Liposomal Doxorubicin-Investigational Chemotherapy-Tissue Doppler Imaging Evaluation (LITE) Randomized Pilot Study Unknown status NCT00531973 Phase 4 liposomal doxorubicin;epirubicin
44 Effect of Ketalar to Prevent Postoperative Chronic Pain After Mastectomy Unknown status NCT00129597 Phase 4 ketalar
45 A Prospective Evaluation of Capecitabine and Metabolite Pharmacokinetics in Elderly Breast and Colorectal Cancer Patients and Their Association With Toxicity and Molecular Markers of Enzyme Activity and Aging Unknown status NCT03465202 Phase 4 Capecitabine
46 The Efficacy and Safety of PEG-rhG-CSF in Neutropenia After Chemotherapy Unknown status NCT02905916 Phase 4 PEG-rhG-CSF
47 Sienna+® Injection Time Study: A Prospective Multicentre, Controlled Clinical Trial to Evaluate the Performance of Superparamagnetic Iron Oxide vs. Standard Technique as Tracer in Sentinel Node Biopsy Unknown status NCT02612870 Phase 4
48 Does a Single Steroid Injection Reduce the Formation of Postmastectomy Seroma Unknown status NCT00307606 Phase 4 Solu-medrol 125 mg
49 MR Mammography: Randomized Controlled Trial to Study Efficiency of MR Mammography in Reducing the Number of Invasive Interventions in Nonpalpable Suspicious Breast Lesions. The MONET - Study Unknown status NCT00302120 Phase 4
50 The Use of Botulinum Toxin-A in Two-stage Tissue Expander/Implant Breast Reconstruction: A Prospective, Randomized, Double-Blind Placebo Controlled Trial Unknown status NCT01427400 Phase 4 Botulinum Toxin-A;Saline

Search NIH Clinical Center for Breast Cancer

Inferred drug relations via UMLS 71 / NDF-RT 50 :


ado-trastuzumab emtansine
Aminoglutethimide
anastrozole
capecitabine
Carboplatin
Chlorambucil
Cisplatin
CISPLATIN PWDR
Cyclophosphamide
Dexrazoxane
Diethylstilbestrol
docetaxel
doxorubicin hydrochloride liposome
Epirubicin
Epirubicin Hydrochloride
Estradiol
Estradiol acetate
estradiol cypionate
ESTRADIOL PWDR
estradiol valerate
Estrogens
Estrogens, Conjugated (USP)
Estrogens, Esterified (USP)
Estrone
Ethinyl Estradiol
exemestane
Fluorouracil
Fluoxymesterone
fosfestrol
fulvestrant
Goserelin Acetate
Idarubicin
Idarubicin Hydrochloride
Ifosfamide
irinotecan
Irinotecan hydrochloride
lapatinib
letrozole
Leuprolide
Leuprolide Acetate
Medroxyprogesterone
medroxyprogesterone acetate
Megestrol
Megestrol Acetate
Melphalan
Melphalan hydrochloride
Methotrexate
Methotrexate Sodium
Methyltestosterone
METHYLTESTOSTERONE PWDR
Mitoxantrone
Mitoxantrone Hydrochloride
Nandrolone
nandrolone decanoate
nandrolone phenpropionate
Paclitaxel
palbociclib
polyestradiol
polyestradiol phosphate
sargramostim
Sodium estrone sulfate
synthetic conjugated estrogens, A
synthetic conjugated estrogens, B
Tamoxifen
Tamoxifen Citrate
Testolactone
Testosterone
testosterone cypionate
testosterone enanthate
Testosterone Propionate
TESTOSTERONE PROPIONATE PWDR
TESTOSTERONE PWDR
testosterone undecanoate
Toremifene
Toremifene Citrate
trastuzumab
Vinblastine
Vinblastine Sulfate
vinorelbine
Vinorelbine tartrate

Cochrane evidence based reviews: breast neoplasms

Sources

Genetic Tests for Breast Cancer

About this section

Genetic tests related to Breast Cancer:

# Genetic test Affiliating Genes
1 Breast Cancer, Familial Male 28
2 Breast Cancer, Susceptibility to 28
3 Breast Cancer, Early-Onset 28
4 Familial Cancer of Breast 28 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1 CASP8 CDH1 CHEK2 ESR1 HMMR KRAS NQO2 PALB2 PHB1 PIK3CA PPM1D RAD51 RAD54L RB1CC1 SLC22A18 TP53 XRCC3
5 Breast Carcinoma 28
6 Malignant Tumor of Breast 28
7 Carcinoma of Male Breast 28
Sources

Anatomical Context for Breast Cancer

About this section

Organs/tissues related to Breast Cancer:

MalaCards : Breast, Lymph Node, Prostate, Skin, Bone, Brain, Bone Marrow
ODiseA: Mammary Gland
Sources

Publications for Breast Cancer

About this section

Articles related to Breast Cancer:

(show top 50) (show all 66164)
# Title Authors PMID Year
1
Breast-cancer risk in families with mutations in PALB2. 62 57 5
25099575 2014
2
Activating ESR1 mutations in hormone-resistant metastatic breast cancer. 62 57 5
24185510 2013
3
ESR1 ligand-binding domain mutations in hormone-resistant breast cancer. 62 57 5
24185512 2013
4
Rare germline mutations in PALB2 and breast cancer risk: a population-based study. 62 57 5
22241545 2012
5
PALB2, which encodes a BRCA2-interacting protein, is a breast cancer susceptibility gene. 62 57 5
17200668 2007
6
Identification of a novel truncating PALB2 mutation and analysis of its contribution to early-onset breast cancer in French-Canadian women. 62 57 5
18053174 2007
7
Mutation screening of the BARD1 gene: evidence for involvement of the Cys557Ser allele in hereditary susceptibility to breast cancer. 53 57 5
15342711 2004
8
Prevalence of PALB2 mutations in Australasian multiple-case breast cancer families. 57 5
23448497 2013
9
MicroRNA-221/222 negatively regulates estrogen receptor alpha and is associated with tamoxifen resistance in breast cancer. 62 46 57
18790736 2008
10
MicroRNA-221/222 confers tamoxifen resistance in breast cancer by targeting p27Kip1. 62 46 57
18708351 2008
11
Endogenous human microRNAs that suppress breast cancer metastasis. 62 46 57
18185580 2008
12
A protein-truncating mutation in CYP17A1 in three sisters with early-onset breast cancer. 57 5
16121340 2005
13
Phosphatidylinositol-3-kinase and AKT1 mutations occur early in breast carcinoma. 53 62 5
19418217 2010
14
The FGFR4 Y367C mutant is a dominant oncogene in MDA-MB453 breast cancer cells. 53 62 5
19946327 2010
15
Cancer predisposing missense and protein truncating BARD1 mutations in non-BRCA1 or BRCA2 breast cancer families. 53 62 5
20077502 2010
16
Common variants in LSP1, 2q35 and 8q24 and breast cancer risk for BRCA1 and BRCA2 mutation carriers. 53 62 57
19656774 2009
17
Association between CYP2D6 polymorphisms and outcomes among women with early stage breast cancer treated with tamoxifen. 53 62 57
19809024 2009
18
Lipocalin 2 promotes breast cancer progression. 53 62 57
19237579 2009
19
An integrative genomic and proteomic analysis of PIK3CA, PTEN, and AKT mutations in breast cancer. 53 62 5
18676830 2008
20
Common variants on chromosome 5p12 confer susceptibility to estrogen receptor-positive breast cancer. 53 62 57
18438407 2008
21
Germline E-cadherin mutations in familial lobular breast cancer. 53 62 5
17660459 2007
22
A genome-wide association study identifies alleles in FGFR2 associated with risk of sporadic postmenopausal breast cancer. 53 62 57
17529973 2007
23
Genetic variation at the CYP19A1 locus predicts circulating estrogen levels but not breast cancer risk in postmenopausal women. 53 62 57
17325027 2007
24
A deletion in CHEK2 of 5,395 bp predisposes to breast cancer in Poland. 53 62 5
16897426 2007
25
Population-based estimates of breast cancer risks associated with ATM gene variants c.7271T>G and c.1066-6T>G (IVS10-6T>G) from the Breast Cancer Family Registry. 53 62 5
16958054 2006
26
Polymorphisms in DNA double-strand break repair genes and risk of breast cancer: two population-based studies in USA and Poland, and meta-analyses. 53 62 5
16485136 2006
27
Spectrum of mutations in BRCA1, BRCA2, CHEK2, and TP53 in families at high risk of breast cancer. 53 62 5
16551709 2006
28
PIK3CA mutations correlate with hormone receptors, node metastasis, and ERBB2, and are mutually exclusive with PTEN loss in human breast carcinoma. 53 62 5
15805248 2005
29
High proportion of recurrent germline mutations in the BRCA1 gene in breast and ovarian cancer patients from the Prague area. 53 62 5
16168118 2005
30
Association of a common variant of the CASP8 gene with reduced risk of breast cancer. 53 62 5
15601643 2004
31
Mutation of the PIK3CA gene in ovarian and breast cancer. 53 62 5
15520168 2004
32
CHEK2 variant I157T may be associated with increased breast cancer risk. 53 62 5
15239132 2004
33
CHEK2*1100delC and susceptibility to breast cancer: a collaborative analysis involving 10,860 breast cancer cases and 9,065 controls from 10 studies. 53 62 5
15122511 2004
34
A Ser49Cys variant in the ataxia telangiectasia, mutated, gene that is more common in patients with breast carcinoma compared with population controls. 53 62 5
15042666 2004
35
Variants in DNA double-strand break repair genes and breast cancer susceptibility. 53 62 5
12023982 2002
36
Low-penetrance susceptibility to breast cancer due to CHEK2(*)1100delC in noncarriers of BRCA1 or BRCA2 mutations. 53 62 5
11967536 2002
37
Involvement of chemokine receptors in breast cancer metastasis. 53 62 57
11242036 2001
38
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer. 53 62 5
10359546 1999
39
Inherited mutations in PTEN that are associated with breast cancer, cowden disease, and juvenile polyposis. 53 62 5
9399897 1997
40
Germline variants of Brazilian women with breast cancer and detection of a novel pathogenic ATM deletion in early-onset breast cancer. 62 5
32986223 2021
41
Breast Cancer Risk Genes - Association Analysis in More than 113,000 Women. 62 5
33471991 2021
42
Inherited predisposition to breast cancer in the Carolina Breast Cancer Study. 62 5
33479248 2021
43
Contribution of Germline Predisposition Gene Mutations to Breast Cancer Risk in African American Women. 62 5
32427313 2020
44
Spectrum of PALB2 germline mutations and characteristics of PALB2-related breast cancer: Screening of 16,501 unselected patients with breast cancer and 5890 controls by next-generation sequencing. 62 5
32339256 2020
45
Clinical outcome of breast cancer in carriers of BRCA1 and BRCA2 mutations according to molecular subtypes. 62 5
32341426 2020
46
Comparison of BRCA versus non-BRCA germline mutations and associated somatic mutation profiles in patients with unselected breast cancer. 62 5
32091409 2020
47
Prevalence of Inherited Mutations in Breast Cancer Predisposition Genes among Women in Uganda and Cameroon. 62 5
31871109 2020
48
The spectrum of mutations predisposing to familial breast cancer in Poland. 62 5
31173646 2019
49
Functional analysis of genetic variants in the high-risk breast cancer susceptibility gene PALB2. 62 5
31757951 2019
50
Prevalence and clinical outcomes of germline mutations in BRCA1/2 and PALB2 genes in 2769 unselected breast cancer patients in China. 62 5
30720863 2019
Sources

Variations for Breast Cancer

About this section

ClinVar genetic disease variations for Breast Cancer:

5 (show top 50) (show all 15216)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 ABCC1 NM_004996.4(ABCC1):c.1988+848A>G SNV Association
 126857 rs35628 GRCh37: 16:16171106-16171106
GRCh38: 16:16077249-16077249
2 ABCC1 NM_004996.4(ABCC1):c.1988+890G>T SNV Association
 126858 rs4148353 GRCh37: 16:16171148-16171148
GRCh38: 16:16077291-16077291
3 PRC1-AS1, PRC1 NM_003981.4(PRC1):c.1462-1016G>A SNV Association
 157642 rs11852999 GRCh37: 15:91514760-91514760
GRCh38: 15:90971530-90971530
4 PRC1-AS1, PRC1 NM_003981.4(PRC1):c.971-442C>T SNV Association
 157637 rs10520699 GRCh37: 15:91522966-91522966
GRCh38: 15:90979736-90979736
5 ABCC1 NM_004996.4(ABCC1):c.2461-1217G>A SNV Association
 126861 rs3888565 GRCh37: 16:16183045-16183045
GRCh38: 16:16089188-16089188
6 CASP8 NM_001372051.1(CASP8):c.853G>C (p.Asp285His) SNV Protective
 7762 rs1045485 GRCh37: 2:202149589-202149589
GRCh38: 2:201284866-201284866
7 RAD51 NM_002875.5(RAD51):c.449G>A (p.Arg150Gln) SNV Pathogenic
 13127 rs121917739 GRCh37: 15:41011016-41011016
GRCh38: 15:40718818-40718818
8 PPM1D NM_003620.4(PPM1D):c.1535del (p.Asn512fs) DEL Pathogenic
 817626 rs763475304 GRCh37: 17:58740624-58740624
GRCh38: 17:60663263-60663263
9 BRIP1 NM_032043.3(BRIP1):c.1072dup (p.Leu358fs) DUP Pathogenic
Likely Pathogenic
 1401857 GRCh37: 17:59878681-59878682
GRCh38: 17:61801320-61801321
10 BRIP1 NM_032043.3(BRIP1):c.2447G>A (p.Trp816Ter) SNV Pathogenic
Pathogenic
 188391 rs786204250 GRCh37: 17:59793357-59793357
GRCh38: 17:61715996-61715996
11 BRIP1 NM_032043.3(BRIP1):c.866del (p.Val289fs) DEL Pathogenic
Pathogenic
 219582 rs864622166 GRCh37: 17:59885880-59885880
GRCh38: 17:61808519-61808519
12 CHEK2 NM_007194.4(CHEK2):c.208G>T (p.Glu70Ter) SNV Pathogenic
 240741 rs878854917 GRCh37: 22:29130502-29130502
GRCh38: 22:28734514-28734514
13 BARD1 NM_000465.4(BARD1):c.1172C>G (p.Ser391Ter) SNV Pathogenic
 237814 rs878853995 GRCh37: 2:215645426-215645426
GRCh38: 2:214780702-214780702
14 CHEK2 NM_007194.4(CHEK2):c.779C>A (p.Ser260Ter) SNV Pathogenic
 410048 rs1060502710 GRCh37: 22:29107910-29107910
GRCh38: 22:28711922-28711922
15 BRIP1 NM_032043.3(BRIP1):c.270C>A (p.Cys90Ter) SNV Pathogenic
 407808 rs1060501740 GRCh37: 17:59934528-59934528
GRCh38: 17:61857167-61857167
16 CHEK2 NM_007194.4(CHEK2):c.480_483dup (p.Asp162fs) DUP Pathogenic
 220278 rs864622453 GRCh37: 22:29121073-29121074
GRCh38: 22:28725085-28725086
17 BRIP1 NM_032043.3(BRIP1):c.180_181insGTTACAAAACAAAGCATGGCAACAATCTC (p.Leu61fs) INSERT Pathogenic
 1451213 GRCh37: 17:59937181-59937182
GRCh38: 17:61859820-61859821
18 BRIP1 NM_032043.3(BRIP1):c.443_446del (p.Arg148fs) DEL Pathogenic
 1451315 GRCh37: 17:59926551-59926554
GRCh38: 17:61849190-61849193
19 BRIP1 NM_032043.3(BRIP1):c.2002G>T (p.Glu668Ter) SNV Pathogenic
 1452216 GRCh37: 17:59853857-59853857
GRCh38: 17:61776496-61776496
20 BRIP1 NM_032043.3(BRIP1):c.2023dup (p.Glu675fs) DUP Pathogenic
 1452885 GRCh37: 17:59853835-59853836
GRCh38: 17:61776474-61776475
21 CHEK2 NM_007194.4(CHEK2):c.1116del (p.Lys373fs) DEL Pathogenic
 1352527 GRCh37: 22:29091841-29091841
GRCh38: 22:28695853-28695853
22 BRIP1 NM_032043.3(BRIP1):c.1603_1606del (p.Asp535fs) DEL Pathogenic
 1352498 GRCh37: 17:59861653-59861656
GRCh38: 17:61784292-61784295
23 ATM DEL Pathogenic
 1676606 GRCh37:
GRCh38:
24 PPM1D NM_003620.4(PPM1D):c.1267G>T (p.Glu423Ter) SNV Pathogenic
 392920 rs1057524700 GRCh37: 17:58740362-58740362
GRCh38: 17:60663001-60663001
25 ATM NM_000051.4(ATM):c.1520T>A (p.Leu507Ter) SNV Pathogenic
 1685552 GRCh37: 11:108121712-108121712
GRCh38: 11:108250985-108250985
26 CDH1 NM_004360.5(CDH1):c.2137_2146dup (p.Gly716fs) DUP Pathogenic
 1685604 GRCh37: 16:68857500-68857501
GRCh38: 16:68823597-68823598
27 ERBB2 NM_004448.4(ERBB2):c.2333_2334insGCTCCCCAG (p.Gly778_Ser779insLeuProSer) INSERT Pathogenic
 375993 rs1057519737 GRCh37: 17:37881003-37881004
GRCh38: 17:39724750-39724751
28 ATM NM_000051.4(ATM):c.320dup (p.Cys107fs) DUP Pathogenic
 870635 rs2078893430 GRCh37: 11:108100038-108100039
GRCh38: 11:108229311-108229312
29 ATM NM_000051.4(ATM):c.3046G>T (p.Gly1016Ter) SNV Pathogenic
 870636 rs2081575204 GRCh37: 11:108142102-108142102
GRCh38: 11:108271375-108271375
30 CHEK2 NG_008150.2:g.(27473_34849)_(43363_46929)dup DUP Pathogenic
 870642 GRCh37:
GRCh38:
31 CHEK2 NM_007194.4(CHEK2):c.668_669insTTGACTGTAGATGATCAGTCAGTTTATCCTAAGGCATTAAGAGATGAATACATCATGTC (p.Ser223_Lys224insTer) INSERT Pathogenic
 1076802 GRCh37: 22:29115397-29115398
GRCh38: 22:28719409-28719410
32 CHEK2 NM_007194.4(CHEK2):c.600del (p.Phe202fs) DEL Pathogenic
 460845 rs1555924538 GRCh37: 22:29115466-29115466
GRCh38: 22:28719478-28719478
33 BARD1 NM_000465.4(BARD1):c.1487C>G (p.Ser496Ter) SNV Pathogenic
 460708 rs1405646805 GRCh37: 2:215632287-215632287
GRCh38: 2:214767563-214767563
34 BRIP1 NM_032043.3(BRIP1):c.2491del (p.Arg831fs) DEL Pathogenic
Pathogenic
 461043 rs1555580769 GRCh37: 17:59793313-59793313
GRCh38: 17:61715952-61715952
35 CHEK2 NC_000022.10:g.(?_29095820)_(29130715_?)del DEL Pathogenic
 460674 GRCh37: 22:29095820-29130715
GRCh38:
36 BRIP1 NM_032043.3(BRIP1):c.777dup (p.Thr260fs) DUP Pathogenic
 461049 rs1555609254 GRCh37: 17:59885968-59885969
GRCh38: 17:61808607-61808608
37 CHEK2 NM_007194.4(CHEK2):c.1298_1299del (p.Gln433fs) DEL Pathogenic
 460797 rs1555913493 GRCh37: 22:29091191-29091192
GRCh38: 22:28695203-28695204
38 CHEK2 NC_000022.11:g.(?_28725237)_(28725373_?)del DEL Pathogenic
 460680 GRCh37: 22:29121225-29121361
GRCh38: 22:28725237-28725373
39 CHEK2 NM_007194.4(CHEK2):c.1543-9_1546del DEL Pathogenic
 530119 rs1555911638 GRCh37: 22:29083971-29083983
GRCh38: 22:28687983-28687995
40 CDH1 NM_004360.5(CDH1):c.190C>T (p.Gln64Ter) SNV Pathogenic
 1319114 GRCh37: 16:68835599-68835599
GRCh38: 16:68801696-68801696
41 BRIP1 NM_032043.3(BRIP1):c.1107C>A (p.Tyr369Ter) SNV Pathogenic
 1320025 GRCh37: 17:59878647-59878647
GRCh38: 17:61801286-61801286
42 ATM NC_000011.9:g.(108168110_108170440)_(108178712_108180886)del DEL Pathogenic
 1343490 GRCh37: 11:108168110-108180886
GRCh38:
43 BRIP1 NM_032043.3(BRIP1):c.2830C>T (p.Gln944Ter) SNV Pathogenic
 487435 rs140233356 GRCh37: 17:59763272-59763272
GRCh38: 17:61685911-61685911
44 BRIP1 NM_032043.3(BRIP1):c.964C>T (p.Gln322Ter) SNV Pathogenic
 133763 rs587778139 GRCh37: 17:59878790-59878790
GRCh38: 17:61801429-61801429
45 CHEK2 NM_007194.4(CHEK2):c.1341del (p.Phe447fs) DEL Pathogenic
 1357489 GRCh37: 22:29091149-29091149
GRCh38: 22:28695161-28695161
46 CHEK2 NM_007194.4(CHEK2):c.1452del (p.Trp485fs) DEL Pathogenic
 1355095 GRCh37: 22:29090029-29090029
GRCh38: 22:28694041-28694041
47 BRIP1 NM_032043.3(BRIP1):c.2182C>T (p.Gln728Ter) SNV Pathogenic
Likely Pathogenic
 1319606 GRCh37: 17:59821868-59821868
GRCh38: 17:61744507-61744507
48 CHEK2 NM_007194.4(CHEK2):c.1201_1205del (p.Thr401fs) DEL Pathogenic
 1338649 GRCh37: 22:29091752-29091756
GRCh38: 22:28695764-28695768
49 BRIP1 NM_032043.3(BRIP1):c.2094C>G (p.Tyr698Ter) SNV Pathogenic
 1369534 GRCh37: 17:59853765-59853765
GRCh38: 17:61776404-61776404
50 CHEK2 NM_007194.4(CHEK2):c.836del (p.Lys279fs) DEL Pathogenic
 545765 rs1555920142 GRCh37: 22:29106004-29106004
GRCh38: 22:28710016-28710016

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

73 (show top 50) (show all 80)
# Symbol AA change Variation ID SNP ID
1 ABRAXAS1 p.Arg361Gln VAR_071865 rs201627097
2 AKT1 p.Glu17Lys VAR_055422 rs121434592
3 BRCA1 p.Leu22Ser VAR_007756 rs80357438
4 BRCA1 p.Cys61Gly VAR_007757 rs28897672
5 BRCA1 p.Cys64Gly VAR_007758 rs80357064
6 BRCA1 p.Val271Met VAR_007761 rs80357244
7 BRCA1 p.Phe461Leu VAR_007765 rs56046357
8 BRCA1 p.Tyr465Asp VAR_007766 rs397508869
9 BRCA1 p.Gly552Val VAR_007768 rs397508893
10 BRCA1 p.Leu892Ser VAR_007775 rs397508994
11 BRCA1 p.Gly960Asp VAR_007776 rs397509022
12 BRCA1 p.Thr1025Ile VAR_007778 rs397509034
13 BRCA1 p.Val1047Ala VAR_007781 rs397509037
14 BRCA1 p.Pro1150Ser VAR_007782 rs80357272
15 BRCA1 p.Ala1708Glu VAR_007796 rs28897696
16 BRCA1 p.Met1775Arg VAR_007799 rs41293463
17 BRCA1 p.Glu10Lys VAR_020679
18 BRCA1 p.Glu23Lys VAR_020680
19 BRCA1 p.Asp749Tyr VAR_020683 rs80357114
20 BRCA1 p.Ser1187Ile VAR_020690
21 BRCA1 p.Gln1200His VAR_020691 rs56214134
22 BRCA1 p.Arg1204Ile VAR_020692
23 BRCA1 p.Lys1207Asn VAR_020693
24 BRCA1 p.Ser1217Tyr VAR_020695
25 BRCA1 p.Met1775Lys VAR_063212 rs41293463
26 BRCA1 p.Arg1699Trp VAR_075666 rs55770810
27 BRCA2 p.Phe32Leu VAR_005085 rs397508057
28 BRCA2 p.Lys53Arg VAR_005086 rs397507595
29 BRCA2 p.Phe81Leu VAR_005088 rs80358507
30 BRCA2 p.Pro201Arg VAR_005089 rs397507822
31 BRCA2 p.Val211Ala VAR_005090
32 BRCA2 p.Pro222Ser VAR_005091 rs397507873
33 BRCA2 p.Cys554Trp VAR_005095 rs80358451
34 BRCA2 p.Asp728Ala VAR_005097 rs757577670
35 BRCA2 p.Gly2274Val VAR_005105 rs55712212
36 BRCA2 p.His2415Asn VAR_005106
37 BRCA2 p.Gln2421His VAR_005107
38 BRCA2 p.Met3118Thr VAR_005110 rs56204128
39 BRCA2 p.Thr3357Arg VAR_005111 rs80358388
40 BRCA2 p.Glu2089Asp VAR_008783
41 BRCA2 p.Thr2722Arg VAR_018661 rs80359062
42 BRCA2 p.Ser1179Asn VAR_020715 rs397507674
43 BRCA2 p.Cys1580Tyr VAR_020719 rs398122784
44 BRCA2 p.Thr1679Ile VAR_020720
45 BRCA2 p.Val1804Ala VAR_020721 rs370252983
46 BRCA2 p.Glu1901Lys VAR_020722
47 BRCA2 p.Ser2072Cys VAR_020725 rs80358862
48 BRCA2 p.Tyr2094Cys VAR_020726 rs397507838
49 BRCA2 p.Pro2096Leu VAR_020727
50 BRCA2 p.Lys2128Asn VAR_020729 rs397507847

Cosmic variations for Breast Cancer:

8 (show top 50) (show all 1857)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)		 Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM145018420 TP53 breast,NS,carcinoma,normal-like carcinoma c.371A>G p.Y124C 17:7675124-7675124 76
2 COSM143371571 TP53 breast,NS,carcinoma,normal-like carcinoma c.371A>G p.Y124C 17:7675124-7675124 76
3 COSM112254313 TP53 breast,NS,carcinoma,normal-like carcinoma c.488A>G p.Y163C 17:7675124-7675124 76
4 COSM144310842 TP53 breast,NS,carcinoma,normal-like carcinoma c.371A>G p.Y124C 17:7675124-7675124 76
5 COSM105620035 TP53 breast,NS,carcinoma,normal-like carcinoma c.659A>G p.Y220C 17:7674872-7674872 76
6 COSM142837225 TP53 breast,NS,carcinoma,normal-like carcinoma c.659A>G p.Y220C 17:7674872-7674872 76
7 COSM144310046 TP53 breast,NS,carcinoma,normal-like carcinoma c.542A>G p.Y181C 17:7674872-7674872 76
8 COSM144650895 TP53 breast,NS,carcinoma,normal-like carcinoma c.542A>G p.Y181C 17:7674872-7674872 76
9 COSM144086999 TP53 breast,NS,carcinoma,normal-like carcinoma c.239A>G p.N80S 17:7674247-7674247 76
10 COSM93183348 TP53 breast,NS,carcinoma,normal-like carcinoma c.716A>G p.N239S 17:7674247-7674247 76
11 COSM122272158 TP53 breast,NS,carcinoma,normal-like carcinoma c.92A>G p.Y31C 17:7675124-7675124 76
12 COSM93183448 TP53 breast,NS,carcinoma,normal-like carcinoma c.659A>G p.Y220C 17:7674872-7674872 76
13 COSM143156653 TP53 breast,NS,carcinoma,normal-like carcinoma c.239A>G p.N80S 17:7674247-7674247 76
14 COSM144309980 TP53 breast,NS,carcinoma,normal-like carcinoma c.599A>G p.N200S 17:7674247-7674247 76
15 COSM142559962 TP53 breast,NS,carcinoma,normal-like carcinoma c.599A>G p.N200S 17:7674247-7674247 76
16 COSM106052957 TP53 breast,NS,carcinoma,normal-like carcinoma c.716A>G p.N239S 17:7674247-7674247 76
17 COSM111759267 TP53 breast,NS,carcinoma,normal-like carcinoma c.488A>G p.Y163C 17:7675124-7675124 76
18 COSM144650822 TP53 breast,NS,carcinoma,normal-like carcinoma c.599A>G p.N200S 17:7674247-7674247 76
19 COSM145017380 TP53 breast,NS,carcinoma,normal-like carcinoma c.599A>G p.N200S 17:7674247-7674247 76
20 COSM142560073 TP53 breast,NS,carcinoma,normal-like carcinoma c.542A>G p.Y181C 17:7674872-7674872 76
21 COSM143943596 TP53 breast,NS,carcinoma,normal-like carcinoma c.239A>G p.N80S 17:7674247-7674247 76
22 COSM143370631 TP53 breast,NS,carcinoma,normal-like carcinoma c.599A>G p.N200S 17:7674247-7674247 76
23 COSM121875637 TP53 breast,NS,carcinoma,normal-like carcinoma c.320A>G p.N107S 17:7674247-7674247 76
24 COSM105619932 TP53 breast,NS,carcinoma,normal-like carcinoma c.716A>G p.N239S 17:7674247-7674247 76
25 COSM111758299 TP53 breast,NS,carcinoma,normal-like carcinoma c.716A>G p.N239S 17:7674247-7674247 76
26 COSM87897794 TP53 breast,NS,carcinoma,normal-like carcinoma c.716A>G p.N239S 17:7674247-7674247 76
27 COSM122271324 TP53 breast,NS,carcinoma,normal-like carcinoma c.320A>G p.N107S 17:7674247-7674247 76
28 COSM105621094 TP53 breast,NS,carcinoma,normal-like carcinoma c.488A>G p.Y163C 17:7675124-7675124 76
29 COSM93184440 TP53 breast,NS,carcinoma,normal-like carcinoma c.488A>G p.Y163C 17:7675124-7675124 76
30 COSM142837877 TP53 breast,NS,carcinoma,normal-like carcinoma c.488A>G p.Y163C 17:7675124-7675124 76
31 COSM144013153 TP53 breast,NS,carcinoma,normal-like carcinoma c.683A>G p.N228S 17:7674247-7674247 76
32 COSM112253154 TP53 breast,NS,carcinoma,normal-like carcinoma c.716A>G p.N239S 17:7674247-7674247 76
33 COSM144013214 TP53 breast,NS,carcinoma,normal-like carcinoma c.626A>G p.Y209C 17:7674872-7674872 76
34 COSM87899124 TP53 breast,NS,carcinoma,normal-like carcinoma c.488A>G p.Y163C 17:7675124-7675124 76
35 COSM122733911 TP53 breast,NS,carcinoma,normal-like carcinoma c.320A>G p.N107S 17:7674247-7674247 76
36 COSM142837132 TP53 breast,NS,carcinoma,normal-like carcinoma c.716A>G p.N239S 17:7674247-7674247 76
37 COSM143943655 TP53 breast,NS,carcinoma,normal-like carcinoma c.182A>G p.Y61C 17:7674872-7674872 76
38 COSM144656349 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.394G>T p.E132* 17:7675101-7675101 74
39 COSM105621658 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.782+358G>A p.? 17:7673823-7673823 74
40 COSM144024878 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.581A>T p.Y194F 17:7674917-7674917 74
41 COSM144008980 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.305+2T>G p.? 17:7674179-7674179 74
42 COSM122283321 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.353C>T p.P118L 17:7674214-7674214 74
43 COSM144087230 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.256G>A p.G86S 17:7674230-7674230 74
44 COSM143157352 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.286A>T p.I96F 17:7674200-7674200 74
45 COSM143389698 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.706T>C p.C236R 17:7673797-7673797 74
46 COSM87899145 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.763A>T p.I255F 17:7674200-7674200 74
47 COSM144705816 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.596G>C p.C199S 17:7674250-7674250 74
48 COSM143159971 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.164A>G p.H55R 17:7674890-7674890 74
49 COSM121875754 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.263A>G p.Y88C 17:7674872-7674872 74
50 COSM142838067 TP53 breast,NS,carcinoma,hormone receptor-positive carcinoma c.586C>T p.R196* 17:7674945-7674945 74

Copy number variations for Breast Cancer from CNVD:

6 (show top 50) (show all 44517)
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 13335 1 1 124300000 Gain or loss Breast cancer
2 13369 1 1 212100000 Gain Breast cancer
3 13374 1 1 222100000 Gain Breast cancer
4 13385 1 1 2300000 Amplification LOC100132287 Breast cancer
5 13393 1 1 2300000 Gain Breast cancer
6 13755 1 1 27800000 Loss Breast cancer
7 13765 1 1 28000000 Loss Breast cancer
8 13769 1 1 30000000 Gain Breast cancer
9 13771 1 1 34400000 Loss Breast cancer
10 13789 1 1 44100000 Loss Breast cancer
11 13794 1 1 51300000 Loss Breast cancer
12 13812 19 1 6900000 Amplification FAM138F Breast cancer
13 13813 19 1 6900000 Amplification Breast cancer
14 13814 19 1 6900000 Amplification OR4F17 Breast cancer
15 13815 19 1 6900000 Amplification WASH5P Breast cancer
16 13840 1 100029806 100029897 Gain or loss ENSG00000195401 Breast cancer
17 13846 1 100080754 100080905 Gain or loss Breast cancer
18 13848 1 100088228 100162167 Gain or loss AGL Breast cancer
19 13851 1 10015603 10163876 Gain or loss UBE4B Breast cancer
20 13856 1 100208128 100261594 Gain or loss SLC35A3 Breast cancer
21 13863 1 100276377 100321515 Gain or loss MFSD14A Breast cancer
22 13870 1 100321692 100371099 Gain or loss SASS6 Breast cancer
23 13872 1 100337383 100337634 Gain or loss Breast cancer
24 13873 1 10037090 10037426 Gain or loss Breast cancer
25 13874 1 100371294 100388632 Gain or loss TRMT13 Breast cancer
26 13877 1 100386997 100416359 Gain or loss LRRC39 Breast cancer
27 13878 1 10041316 10042297 Gain or loss Breast cancer
28 13879 1 100425072 100487997 Gain or loss DBT Breast cancer
29 13881 1 100451437 100451814 Gain or loss Breast cancer
30 13883 1 100487234 100487455 Gain or loss Breast cancer
31 13884 1 100504351 100529915 Gain or loss RTCA Breast cancer
32 13886 1 100519385 100519452 Gain or loss MIR553 Breast cancer
33 13888 1 100569944 100570760 Gain or loss Breast cancer
34 13889 1 100590611 100758420 Gain or loss CDC14A Breast cancer
35 13891 1 100616826 100616919 Gain or loss Breast cancer
36 13893 1 100631177 100632170 Gain or loss Breast cancer
37 13899 1 1007061 1041341 Gain or loss C1orf159 Breast cancer
38 13900 1 1007068 1041338 Gain or loss Breast cancer
39 13904 1 100776316 100780171 Gain or loss GPR88 Breast cancer
40 13912 1 100824790 100825596 Gain or loss Breast cancer
41 13914 1 100890091 100890411 Gain or loss Breast cancer
42 13917 1 100957885 100977185 Gain or loss VCAM1 Breast cancer
43 13926 1 101110531 101134142 Gain or loss EXTL2 Breast cancer
44 13928 1 101134220 101217580 Gain or loss SLC30A7 Breast cancer
45 13933 1 101179156 101180138 Gain or loss Breast cancer
46 13934 1 101227773 101263950 Gain or loss DPH5 Breast cancer
47 13940 17 72596983 72597170 Gain or loss SCARNA16 Breast cancer
48 13946 1 101466810 101466909 Gain or loss Breast cancer
49 13947 1 101475043 101479657 Gain or loss S1PR1 Breast cancer
50 13948 1 101494418 101494760 Gain or loss Breast cancer
Sources

Expression for Breast Cancer

About this section
LifeMap Discovery
Genes differentially expressed in tissues of Breast Cancer patients vs. healthy controls: 35 (show top 50) (show all 203)
# Gene Description Tissue Up/Dn Fold Change (log2) P value
1 PI15 peptidase inhibitor 15 Breast - 5.84 0.000
2 TOP2A DNA topoisomerase II alpha Breast + 5.44 0.005
3 KRT14 keratin 14 Breast - 5.37 0.001
4 ARHGAP36 Rho GTPase activating protein 36 Breast - 5.16 0.008
5 WIF1 WNT inhibitory factor 1 Breast - 5.12 0.004
6 ATP1A2 ATPase Na+/K+ transporting subunit alpha 2 Breast - 5.04 0.000
7 KRT14 keratin 14 Breast - 4.98 0.000
8 SCGB1D2 secretoglobin family 1D member 2 Breast - 4.97 0.005
9 THSD7B thrombospondin type 1 domain containing 7B Breast - 4.96 0.000
10 MUCL1 mucin like 1 Breast - 4.91 0.013
11 KRT5 keratin 5 Breast - 4.84 0.001
12 COL11A1 collagen type XI alpha 1 chain Breast + 4.79 0.005
13 KRT16 keratin 16 Breast - 4.78 0.000
14 COL11A1 collagen type XI alpha 1 chain Breast + 4.67 0.001
15 KRT5 keratin 5 Breast - 4.66 0.002
16 FAM3B FAM3 metabolism regulating signaling molecule B Breast - 4.62 0.000
17 COL10A1 collagen type X alpha 1 chain Breast + 4.54 0.003
18 GABRP gamma-aminobutyric acid type A receptor subunit pi Breast - 4.52 0.002
19 CNN1 calponin 1 Breast - 4.50 0.002
20 COL8A1 collagen type VIII alpha 1 chain Breast + 4.45 0.007
21 SMYD1 SET and MYND domain containing 1 Breast - 4.43 0.000
22 CTHRC1 collagen triple helix repeat containing 1 Breast + 4.42 0.012
23 COL17A1 collagen type XVII alpha 1 chain Breast - 4.39 0.000
24 SCGB3A1 secretoglobin family 3A member 1 Breast - 4.38 0.010
25 SCGB2A2 secretoglobin family 2A member 2 Breast - 4.38 0.005
26 MYBPC1 myosin binding protein C1 Breast - 4.38 0.001
27 MPPED2 metallophosphoesterase domain containing 2 Breast - 4.37 0.002
28 SERPINB5 serpin family B member 5 Breast - 4.31 0.001
29 PLEKHS1 pleckstrin homology domain containing S1 Breast - 4.29 0.006
30 VTCN1 V-set domain containing T cell activation inhibitor 1 Breast - 4.28 0.005
31 PIGR polymeric immunoglobulin receptor Breast - 4.26 0.003
32 ASPM assembly factor for spindle microtubules Breast + 4.26 0.031
33 SERPINB5 serpin family B member 5 Breast - 4.24 0.000
34 FOSB FosB proto-oncogene, AP-1 transcription factor subunit Breast - 4.23 0.001
35 LYZ lysozyme Breast + 4.19 0.017
36 KRT15 keratin 15 Breast - 4.19 0.010
37 TFPI2 tissue factor pathway inhibitor 2 Breast - 4.17 0.043
38 KRT17 keratin 17 Breast - 4.16 0.001
39 COL1A2 collagen type I alpha 2 chain Breast + 4.16 0.003
40 MUCL1 mucin like 1 Breast - 4.13 0.020
41 ACTA2 actin alpha 2, smooth muscle Breast - 4.10 0.011
42 KRT17 keratin 17 Breast - 4.08 0.001
43 SAMD5 sterile alpha motif domain containing 5 Breast - 4.05 0.004
44 COL1A2 collagen type I alpha 2 chain Breast + 4.04 0.007
45 PDLIM3 PDZ and LIM domain 3 Breast - 4.04 0.008
46 TFPI2 tissue factor pathway inhibitor 2 Breast - 4.01 0.015
47 PPP4R4 protein phosphatase 4 regulatory subunit 4 Breast - 4.01 0.009
48 ANGPT2 angiopoietin 2 Breast + 3.99 0.020
49 ASPN asporin Breast + 3.97 0.012
50 GNA13 G protein subunit alpha 13 Breast + 3.95 0.020
Search GEO for disease gene expression data for Breast Cancer.
Sources

Pathways for Breast Cancer

About this section


Pathways directly related to Breast Cancer:

# Pathway Source
1 Defective pyroptosis Reactome 66
2 Signaling by LRP5 mutants Reactome 66

Pathways related to Breast Cancer according to GeneCards Suite gene sharing:

(show top 50) (show all 81)
# Super pathways Score Top Affiliating Genes
1
Gene expression (Transcription) 66
Show member pathways
 14.12 AKT1 ATM BARD1 BRCA1 BRIP1 CHEK2
2
ERK Signaling 64
Show member pathways
 13.88 TP53 RAD51 NBN KRAS ESR1 CHEK2
3
Disease 66
Show member pathways
 13.83 TP53 SLC22A18 RAD51 PIK3CA PALB2 NBN
4
Cell Cycle, Mitotic 66
Show member pathways
 13.57 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
5
Homology Directed Repair 66
Show member pathways
 13.29 XRCC3 TP53 RAD51 PALB2 NBN CHEK2
6
Regulation of TP53 Activity 66
Show member pathways
 13.02 AKT1 ATM BARD1 BRCA1 BRIP1 CHEK2
7
TCR Signaling (Qiagen) 64
Show member pathways
 12.95 AKT1 ATM BARD1 BRCA1 BRCA2 BRIP1
8
Homologous DNA Pairing and Strand Exchange 66
Show member pathways
 12.85 ATM BARD1 BRCA1 BRCA2 BRIP1 NBN
9
Cell Cycle Checkpoints 66
Show member pathways
 12.84 ATM BARD1 BRCA1 BRIP1 CHEK2 NBN
10
Malignant pleural mesothelioma 74
12.79 AKT1 ATM BARD1 BRCA1 CDH1 PIK3CA
11
Endometrial cancer 74
Show member pathways
 12.78 TP53 RAD51 PIK3CA KRAS CDH1 BRCA2
12
Meiosis 66
Show member pathways
 12.77 RAD51 NBN BRCA2 BRCA1 ATM
13
DNA repair pathways, full network 74
Show member pathways
 12.7 RAD51 PALB2 NBN BRIP1 BRCA2 BRCA1
14
Chks in Checkpoint Regulation 64
Show membe