BROVCA2
MCID: BRS111
MIFTS: 53

Breast-Ovarian Cancer, Familial 2 (BROVCA2)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases

Aliases & Classifications for Breast-Ovarian Cancer, Familial 2

MalaCards integrated aliases for Breast-Ovarian Cancer, Familial 2:

Name: Breast-Ovarian Cancer, Familial 2 56 29 6
Breast-Ovarian Cancer, Familial, 2 56 73 13
Brovca2 56 52 73
Cancer, Breast-Ovarian, Familial, Susceptibility to, Type 2 39
Breast-Ovarian Cancer, Familial, Susceptibility to, 2 56
Brca2 Hereditary Breast and Ovarian Cancer Syndrome 52
Familial Susceptibility to Breast-Ovarian Cancer 2 52
Ovarian Cancer Familial 2 73
Breast Cancer Familial 2 73
Hboc 52

Characteristics:

OMIM:

56
Inheritance:
autosomal dominant

Miscellaneous:
mutation carriers have an increased risk of developing breast and/or ovarian cancer at an earlier age
increased risk of bilateral breast cancer
lifetime risk of breast cancer in mutation carriers is 60 to 85%
lifetime risk of ovarian cancer in mutation carriers is 10 to 20%
lifetime risk of breast cancer in male mutation carriers in 6%


HPO:

31
breast-ovarian cancer, familial 2:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 56 612555
OMIM Phenotypic Series 56 PS604370
SNOMED-CT via HPO 68 123843001 254838004 263681008

Summaries for Breast-Ovarian Cancer, Familial 2

NIH Rare Diseases : 52 BRCA2 hereditary breast and ovarian cancer syndrome (BRCA2 HBOC) is an inherited condition that is characterized by an increased risk for a variety of different cancers. Women with this condition have a 49-55% risk of developing breast cancer, a 16-18% risk of developing ovarian cancer and a 62% risk of developing contralateral breast cancer by age 70. Men have a 6% lifetime risk of breast cancer and an increased risk for prostate cancer . Both men and women with BRCA2 HBOC have an elevated risk for pancreatic cancer. BRCA2 HBOC may also be associated with cancers of the stomach, gallbladder, bile duct, esophagus, stomach, fallopian tube, primary peritoneum, and skin; however, these risks are not well defined. This condition is caused by changes (mutations ) in the BRCA2 gene and is inherited in an autosomal dominant manner. Management may include high risk cancer screening , chemopreventation and/or prophylactic surgeries.

MalaCards based summary : Breast-Ovarian Cancer, Familial 2, also known as breast-ovarian cancer, familial, 2, is related to hereditary breast ovarian cancer syndrome and breast-ovarian cancer, familial 1. An important gene associated with Breast-Ovarian Cancer, Familial 2 is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are Resolution of D-loop Structures through Holliday Junction Intermediates and Fanconi anemia pathway. The drugs Coal tar and Glutaral have been mentioned in the context of this disorder. Affiliated tissues include breast, testes and prostate, and related phenotypes are breast carcinoma and ovarian neoplasm

UniProtKB/Swiss-Prot : 73 Breast-ovarian cancer, familial, 2: A condition associated with familial predisposition to cancer of the breast and ovaries. Characteristic features in affected families are an early age of onset of breast cancer (often before age 50), increased chance of bilateral cancers (cancer that develop in both breasts, or both ovaries, independently), frequent occurrence of breast cancer among men, increased incidence of tumors of other specific organs, such as the prostate.

More information from OMIM: 612555 PS604370

Related Diseases for Breast-Ovarian Cancer, Familial 2

Diseases in the Hereditary Breast Ovarian Cancer Syndrome family:

Breast-Ovarian Cancer, Familial 1 Breast-Ovarian Cancer, Familial 2
Breast-Ovarian Cancer, Familial 3 Breast-Ovarian Cancer, Familial 4

Diseases related to Breast-Ovarian Cancer, Familial 2 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 73)
# Related Disease Score Top Affiliating Genes
1 hereditary breast ovarian cancer syndrome 33.1 BRCA2 BRCA1
2 breast-ovarian cancer, familial 1 32.1 BRCA2 BRCA1
3 bilateral breast cancer 30.4 BRCA2 BRCA1
4 sporadic breast cancer 30.2 BRCA2 BRCA1
5 li-fraumeni syndrome 29.9 BRCA2 BRCA1
6 cowden syndrome 29.9 BRCA2 BRCA1
7 pancreatic cancer 11.6
8 ovarian cancer 10.7
9 haemophilus influenzae 10.6
10 diphtheria 10.4
11 pertussis 10.3
12 tetanus 10.3
13 lynch syndrome 10.3
14 sudden infant death syndrome 10.2
15 li-fraumeni syndrome 2 10.2
16 fanconi anemia, complementation group a 10.1
17 endometrial hyperplasia 10.1
18 acute pancreatitis 10.1
19 ischemia 10.1
20 lactic acidosis 10.1
21 pancreatitis 10.1
22 epiglottitis 10.1
23 ovarian epithelial cancer 10.1
24 fallopian tube clear cell adenocarcinoma 10.0 BRCA2 BRCA1
25 rare malignant breast tumor 10.0 BRCA2 BRCA1
26 synchronous bilateral breast carcinoma 10.0 BRCA2 BRCA1
27 ovary transitional cell carcinoma 10.0 BRCA2 BRCA1
28 hereditary site-specific ovarian cancer syndrome 10.0 BRCA2 BRCA1
29 familial ovarian cancer 10.0 BRCA2 BRCA1
30 tetraploidy 10.0 BRCA2 BRCA1
31 cancerophobia 10.0 BRCA2 BRCA1
32 basaloid lung carcinoma 10.0 BRCA2 BRCA1
33 nosophobia 10.0 BRCA2 BRCA1
34 endosalpingiosis 10.0 BRCA2 BRCA1
35 ovarian carcinosarcoma 10.0 BRCA2 BRCA1
36 cervical adenoma malignum 10.0 BRCA2 BRCA1
37 b-lymphoblastic leukemia/lymphoma with hyperdiploidy 10.0 BRCA2 BRCA1
38 mutagen sensitivity 10.0 BRCA2 BRCA1
39 primary peritoneal carcinoma 10.0 BRCA2 BRCA1
40 dysplastic nevus syndrome 10.0 BRCA2 BRCA1
41 hypertrophy of breast 10.0 BRCA2 BRCA1
42 female reproductive endometrioid cancer 10.0 BRCA2 BRCA1
43 peritoneum cancer 10.0 BRCA2 BRCA1
44 premature menopause 10.0 BRCA2 BRCA1
45 papillary serous adenocarcinoma 10.0 BRCA2 BRCA1
46 lobular neoplasia 10.0 BRCA2 BRCA1
47 fallopian tube disease 10.0 BRCA2 BRCA1
48 thoracic benign neoplasm 10.0 BRCA2 BRCA1
49 myasthenic syndrome, congenital, 6, presynaptic 10.0 BRCA2 BRCA1
50 breast benign neoplasm 10.0 BRCA2 BRCA1

Graphical network of the top 20 diseases related to Breast-Ovarian Cancer, Familial 2:



Diseases related to Breast-Ovarian Cancer, Familial 2

Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial 2

Human phenotypes related to Breast-Ovarian Cancer, Familial 2:

31
# Description HPO Frequency HPO Source Accession
1 breast carcinoma 31 HP:0003002
2 ovarian neoplasm 31 HP:0100615

Symptoms via clinical synopsis from OMIM:

56
Neoplasia:
breast cancer
ovarian cancer

Clinical features from OMIM:

612555

GenomeRNAi Phenotypes related to Breast-Ovarian Cancer, Familial 2 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability after ionizing radiation GR00232-A-2 9.16 BRCA1 BRCA2
2 Decreased viability with cisplatin GR00101-A-4 8.96 BRCA1 BRCA2
3 Synthetic lethal with cisplatin GR00101-A-1 8.62 BRCA1 BRCA2

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 2

Drugs for Breast-Ovarian Cancer, Familial 2 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 8)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Coal tar Approved Phase 2 8007-45-2
2
Glutaral Experimental Phase 2 111-30-8 3485
3 Pharmaceutical Solutions Phase 2
4 HBOC 201 Phase 2
5 Blood Substitutes Phase 2
6 Hydroxyethyl Starch Derivatives Phase 2
7 Plasma Substitutes Phase 2
8
Ethanol Approved 64-17-5 702

Interventional clinical trials:

(show all 32)
# Name Status NCT ID Phase Drugs
1 Enhancement of Tissue Preservation During Cardiopulmonary Bypass With HBOC-201 (Registry Study) Unknown status NCT00301535 Phase 2 HBOC-201 (hemoglobin glutamer-250 bovine)
2 A Single-Center, Study to Evaluate the Safety and Tolerability of Hemoglobin-Based Oxygen Carrier-201 (HBOC 201) in Trauma Subjects. (Phase II - Safety and Tolerability) Unknown status NCT00301483 Phase 2 Hemoglobin-based oxygen carrier-201 (HBOC 201)
3 Phase II, Open-Label Study in the Catheterization Laboratory Setting to Challenge the Concept That HBOC-201 Administration Might Improve Myocardial 'Oxygenation' and Myocardial Function at the Moment of (Brief) Coronary Occlusion Completed NCT00479895 Phase 2 Hemoglobin Based Oxygen Carrier-201 (HBOC-201, Hemopure)
4 A Multi-Center,Randomized,Double-Blind,Placebo-Controlled,Dose Finding Pilot Study, to Evaluate Safety/Feasibility of HBOC-201 in Elective Percutaneous Coronary Revascularization of Subjects With Acute Coronary Syndromes Completed NCT00317512 Phase 2 Hemoglobin-Based Oxygen Carrier-201 (HBOC-201);Voluven
5 Phase II, Multi-Center,Single-Blind,Placebo-Controlled Study,Evaluating Safety & Feasibility of HBOC-201 (Wound Healing Patients With Peripheral Vascular Disease & Undergoing Lower Limb Amputation Due to Critical Lower Limb Ischemia Terminated NCT00300040 Phase 2 Hemoglobin glutamer 250 - bovine;6% Hydroxyethylstarch
6 Attitudes About Childbearing And Fertility In Women Seeking Genetic Testing For Inherited Breast And Ovarian Cancer Syndromes (HBOC) Completed NCT00829959
7 Genetic Counseling for Breast Cancer Survivors (GC for BC) Completed NCT02451735
8 Statewide Communication to Reach Diverse Low Income Women Completed NCT02956681
9 Adaptation to Living With a BRCA l/2 Mutation in Carriers and Their Partners Completed NCT01866865
10 Enhancing At-risk Latina Women's Use of Genetic Counseling for Hereditary Breast and Ovarian Cancer: Using Mental Models to Develop Culturally Targeted Media Completed NCT03075540
11 Strategies to Increase the Identification, Genetic Counseling Referral and Genetic Testing for Women at Risk for Hereditary Breast and/or Ovarian Cancer Completed NCT02786147
12 Understanding Social, Cultural, and Religious Factors Influencing BRCA Genetic Testing in the Orthodox Jewish Community Completed NCT03624088
13 Cascade Genetic Testing for Hereditary Breast/Ovarian Cancer and Lynch Syndrome in Switzerland Recruiting NCT03124212
14 Is it Feasible?: Self-Affirmation for Hereditary Breast and Ovarian Cancer Genetic Counseling Recruiting NCT03225170
15 Comparative Effectiveness of Interventions to Increase Guideline-based Genetic Counseling in Ethnically and Geographically Diverse Cancer Survivors Recruiting NCT03326713
16 Impact of a Psychoeducational Intervention on Expectations and Coping in Young Women (18-40 Years) Exposed to a High Familial Breast/Ovarian Cancer Risk Recruiting NCT02705924
17 PROspective Evaluation of GErmline Mutations, Cancer Outcome and Tissue Biomarkers: A Registry for Patients With Triple Negative Breast Cancer and Germline Mutations Recruiting NCT02302742
18 Testing an Intelligent Tutoring System Intervention to Enhance Genetic Risk Assessment in Underserved Blacks and Latinas at Risk of Hereditary Breast Cancer Recruiting NCT03511690
19 Decision Support for BRCA Testing in Ethnically Diverse Women Recruiting NCT03470402
20 Prospective Randomized Multicenter Trial to Assess the Efficacy of a Structured Physical Exercise Training and Mediterranean Diet in Women With BRCA1/2 Mutations Recruiting NCT02516540
21 Testing a Culturally Adapted Telephone Genetic Counseling Intervention to Enhance Genetic Risk Assessment in Underserved Latinas at Risk of Hereditary Breast and Ovarian Cancer Recruiting NCT03959267
22 HEALTH4Families: Optimizing a Weight Management and Health Behavior Intervention for BRCA+ and Lynch Syndrome Families Recruiting NCT04125914
23 A Cluster Randomized Controlled Trial Comparing Interventions to Enhance Utilization of Genetics Services Among Breast Cancer Patients Active, not recruiting NCT01789684
24 Prospective Randomized Multicenter Trial to Assess the Feasibility of a Structured Physical Exercise Training and Mediterranean-style Diet in Women With BRCA1/2 Mutations Active, not recruiting NCT02087592
25 Comparison of 3 Modes of Genetic Counseling in High-Risk Public Hospital Active, not recruiting NCT03006913
26 An Expanded IND Access Investigation of HBOC-201 Infusion in Patients With Severe Acute Anemia Who Are Unable to Receive Red Blood Cell Transfusion Available NCT03633604
27 Expanded Access Protocol Using HBOC-201 to Treat Patients With Life Threatening Anemia, for Whom Blood is Not an Option Available NCT02684474
28 Expanded Access Protocol Using HBOC-201 Available NCT02934282 HBOC-201
29 Expanded Access Protocol for the Treatment Use of HBOC-201 Enrolling by invitation NCT01881503
30 Peer Support For Young Adult Women With High Breast Cancer Risk Not yet recruiting NCT04248257
31 The DIALOGUE Study: Using Digital Health to Improve Care for Families With Predisposition to Hereditary Cancer Not yet recruiting NCT04214210
32 Double Blind, Randomized Controlled Study to Evaluate the Efficacy of Hyperbaric Oxygen Therapy (HBOT) in New-onset Type-1 Diabetes Mellitus Not yet recruiting NCT04412200

Search NIH Clinical Center for Breast-Ovarian Cancer, Familial 2

Genetic Tests for Breast-Ovarian Cancer, Familial 2

Genetic tests related to Breast-Ovarian Cancer, Familial 2:

# Genetic test Affiliating Genes
1 Breast-Ovarian Cancer, Familial 2 29 BRCA2

Anatomical Context for Breast-Ovarian Cancer, Familial 2

MalaCards organs/tissues related to Breast-Ovarian Cancer, Familial 2:

40
Breast, Testes, Prostate, Skin, Ovary, Brain, Liver

Publications for Breast-Ovarian Cancer, Familial 2

Articles related to Breast-Ovarian Cancer, Familial 2:

(show top 50) (show all 992)
# Title Authors PMID Year
1
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. 56 6
9585613 1998
2
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. 6 56
8589730 1996
3
Identification of the breast cancer susceptibility gene BRCA2. 6 56
8524414 1995
4
Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. 6 56
8075631 1994
5
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 61 6
17508274 2007
6
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. 56 61
9971877 1999
7
BRCA1- and BRCA2-Associated Hereditary Breast and Ovarian Cancer 61 6
20301425 1998
8
Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation. 56
30110579 2018
9
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics. 6
27854360 2017
10
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment. 6
25394175 2015
11
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
12
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
13
Functional assays for analysis of variants of uncertain significance in BRCA2. 6
24323938 2014
14
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 6
24366376 2014
15
Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 6
24366402 2014
16
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. 6
23918944 2013
17
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 6
23788249 2013
18
NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. 6
23188549 2013
19
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. 6
20065170 2010
20
Inhibition of poly(ADP-ribose) polymerase in tumors from BRCA mutation carriers. 56
19553641 2009
21
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. 56
19241424 2009
22
ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. 6
19305347 2009
23
Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers. 56
18355772 2008
24
Secondary mutations as a mechanism of cisplatin resistance in BRCA2-mutated cancers. 56
18264087 2008
25
The emerging landscape of breast cancer susceptibility. 6
18163131 2008
26
Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families. 56
17850627 2007
27
Cancer risks in carriers of the BRCA1/2 Ashkenazi founder mutations. 56
17307836 2007
28
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. 6
17392385 2007
29
The contribution of germline rearrangements to the spectrum of BRCA2 mutations. 56
16950820 2006
30
Breast cancer risks for BRCA1/2 carriers. 56
15622557 2004
31
Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H. 6
15235023 2004
32
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 6
15604628 2004
33
Breast and ovarian cancer risks due to inherited mutations in BRCA1 and BRCA2. 56
14576434 2003
34
American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. 6
12692171 2003
35
BRCA2 T2722R is a deleterious allele that causes exon skipping. 6
12145750 2002
36
Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. 56
12181777 2002
37
The effect of a single BRCA2 mutation on cancer in Iceland. 56
12114473 2002
38
Risk-reducing salpingo-oophorectomy in women with a BRCA1 or BRCA2 mutation. 56
12023992 2002
39
Prophylactic oophorectomy in carriers of BRCA1 or BRCA2 mutations. 56
12023993 2002
40
Haplotype analysis in Icelandic and Finnish BRCA2 999del5 breast cancer families. 56
11781689 2001
41
BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients. 56
11436123 2001
42
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. 56
11179017 2001
43
Mutation analysis of a Mauritian hereditary breast cancer family reveals the BRCA2 6503deITT mutation previously found to recur in different ethnic populations. 6
11359068 2001
44
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. 6
11062481 2000
45
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. 6
11039575 2000
46
Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer. 6
10807692 2000
47
Clinicopathologic features of BRCA-linked and sporadic ovarian cancer. 56
10807385 2000
48
Pregnancy and risk of early breast cancer in carriers of BRCA1 and BRCA2. 56
10584720 1999
49
Cancer risks in BRCA2 mutation carriers. 56
10433620 1999
50
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. 56
9792861 1998

Variations for Breast-Ovarian Cancer, Familial 2

ClinVar genetic disease variations for Breast-Ovarian Cancer, Familial 2:

6 (show top 50) (show all 6238) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2):c.4258del (p.Asp1420fs)deletion Pathogenic 51617 rs80359436 13:32912750-32912750 13:32338613-32338613
2 BRCA2 NM_000059.3(BRCA2):c.4271del (p.Ser1424fs)deletion Pathogenic 51624 rs80359437 13:32912763-32912763 13:32338626-32338626
3 BRCA2 NM_000059.3(BRCA2):c.4285C>T (p.Gln1429Ter)SNV Pathogenic 51627 rs80358665 13:32912777-32912777 13:32338640-32338640
4 BRCA2 NM_000059.3(BRCA2):c.4314del (p.Ala1439fs)deletion Pathogenic 51629 rs80359441 13:32912806-32912806 13:32338669-32338669
5 BRCA2 NM_000059.4(BRCA2):c.4325C>A (p.Ser1442Ter)SNV Pathogenic 51633 rs80358670 13:32912817-32912817 13:32338680-32338680
6 BRCA2 NM_000059.3(BRCA2):c.4339del (p.Ile1446_Val1447insTer)deletion Pathogenic 51634 rs80359443 13:32912831-32912831 13:32338694-32338694
7 BRCA2 NM_000059.3(BRCA2):c.4380_4381del (p.Ser1461fs)deletion Pathogenic 51638 rs397507715 13:32912870-32912871 13:32338733-32338734
8 BRCA2 NM_000059.3(BRCA2):c.438del (p.Gln147fs)deletion Pathogenic 51639 rs397507716 13:32900250-32900250 13:32326113-32326113
9 BRCA2 NM_000059.3(BRCA2):c.4398_4402del (p.Leu1466fs)deletion Pathogenic 51640 rs80359444 13:32912887-32912891 13:32338750-32338754
10 BRCA2 NM_000059.3(BRCA2):c.439C>T (p.Gln147Ter)SNV Pathogenic 51641 rs397507717 13:32900251-32900251 13:32326114-32326114
11 BRCA2 NM_000059.3(BRCA2):c.4409_4410del (p.Ile1470fs)deletion Pathogenic 51642 rs80359446 13:32912900-32912901 13:32338763-32338764
12 BRCA2 NM_000059.3(BRCA2):c.4409_4413del (p.Ile1470fs)deletion Pathogenic 51643 rs397507718 13:32912900-32912904 13:32338763-32338767
13 BRCA2 NM_000059.3(BRCA2):c.4440T>G (p.Tyr1480Ter)SNV Pathogenic 51649 rs397507719 13:32912932-32912932 13:32338795-32338795
14 BRCA2 NM_000059.3(BRCA2):c.4456_4459del (p.Val1486fs)deletion Pathogenic 51650 rs80359449 13:32912946-32912949 13:32338809-32338812
15 BRCA2 NM_000059.3(BRCA2):c.4462_4463CA[1] (p.His1488fs)short repeat Pathogenic 51651 rs397507720 13:32912953-32912954 13:32338816-32338817
16 BRCA2 NM_000059.3(BRCA2):c.4471_4474del (p.Leu1491fs)deletion Pathogenic 51652 rs80359451 13:32912962-32912965 13:32338825-32338828
17 BRCA2 NM_000059.3(BRCA2):c.4474_4477AAAG[1] (p.Glu1493fs)short repeat Pathogenic 51653 rs80359454 13:32912965-32912968 13:32338828-32338831
18 BRCA2 NM_000059.3(BRCA2):c.4480dup (p.Ser1494fs)duplication Pathogenic 51654 rs80359453 13:32912969-32912970 13:32338832-32338833
19 BRCA2 NM_000059.3(BRCA2):c.4423del (p.Met1475fs)deletion Pathogenic 51646 rs80359447 13:32912912-32912912 13:32338775-32338775
20 BRCA2 NM_000059.3(BRCA2):c.4525C>T (p.Gln1509Ter)SNV Pathogenic 51659 rs80358683 13:32913017-32913017 13:32338880-32338880
21 BRCA2 NM_000059.3(BRCA2):c.4535del (p.Arg1512fs)deletion Pathogenic 51662 rs397507723 13:32913027-32913027 13:32338890-32338890
22 BRCA2 NM_000059.3(BRCA2):c.4536_4539dup (p.Glu1514Ter)duplication Pathogenic 51663 rs397507724 13:32913027-32913028 13:32338890-32338891
23 BRCA2 NM_000059.3(BRCA2):c.4551_4554del (p.Lys1517fs)deletion Pathogenic 51669 rs80359457 13:32913041-32913044 13:32338904-32338907
24 BRCA2 NM_000059.3(BRCA2):c.4552G>T (p.Glu1518Ter)SNV Pathogenic 51670 rs397507727 13:32913044-32913044 13:32338907-32338907
25 BRCA2 NM_000059.3(BRCA2):c.4554del (p.Glu1518fs)deletion Pathogenic 51671 rs80359458 13:32913045-32913045 13:32338908-32338908
26 BRCA2 NM_000059.3(BRCA2):c.4556del (p.Pro1519fs)deletion Pathogenic 51672 rs397507728 13:32913047-32913047 13:32338910-32338910
27 BRCA2 NM_000059.3(BRCA2):c.4544del (p.Lys1515fs)deletion Pathogenic 51666 rs397507725 13:32913033-32913033 13:32338896-32338896
28 BRCA2 NM_000059.3(BRCA2):c.4546dupA (p.Ile1516Asnfs)duplication Pathogenic 51667 rs80359456 13:32913037-32913038 13:32338900-32338901
29 BRCA2 NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter)SNV Pathogenic 51678 rs80358692 13:32913080-32913080 13:32338943-32338943
30 BRCA2 NM_000059.3(BRCA2):c.4593del (p.Val1532fs)deletion Pathogenic 51680 rs397507731 13:32913080-32913080 13:32338943-32338943
31 BRCA2 NM_000059.3(BRCA2):c.4593dupA (p.Val1532Serfs)duplication Pathogenic 51681 rs397507731 13:32913079-32913080 13:32338942-32338943
32 BRCA2 NM_000059.3(BRCA2):c.4808del (p.Asn1603fs)deletion Pathogenic 51718 rs80359466 13:32913296-32913296 13:32339159-32339159
33 BRCA2 NM_000059.3(BRCA2):c.462_463del (p.Arg155_Asp156insTer)deletion Pathogenic 51684 rs80359459 13:32900273-32900274 13:32326136-32326137
34 BRCA2 NM_000059.3(BRCA2):c.4638dup (p.Asp1547Ter)duplication Pathogenic 51686 rs80359462 13:32913125-32913126 13:32338988-32338989
35 BRCA2 NM_000059.3(BRCA2):c.4647_4650del (p.Lys1549fs)deletion Pathogenic 51687 rs397507734 13:32913139-32913142 13:32339002-32339005
36 BRCA2 NM_000059.3(BRCA2):c.464_468del (p.Arg155fs)deletion Pathogenic 51688 rs397507735 13:32900276-32900280 13:32326139-32326143
37 BRCA2 NM_000059.3(BRCA2):c.4684C>T (p.Gln1562Ter)SNV Pathogenic 51696 rs397507737 13:32913176-32913176 13:32339039-32339039
38 BRCA2 NM_000059.3(BRCA2):c.4695_4698dup (p.Leu1567fs)duplication Pathogenic 51697 rs397507738 13:32913186-32913187 13:32339049-32339050
39 BRCA2 NM_000059.3(BRCA2):c.469_470del (p.Lys157fs)deletion Pathogenic 51698 rs397507739 13:32900281-32900282 13:32326144-32326145
40 BRCA2 NM_000059.3(BRCA2):c.470_474del (p.Lys157fs)deletion Pathogenic 51701 rs80359463 13:32900281-32900285 13:32326144-32326148
41 BRCA2 NM_000059.4(BRCA2):c.4731_4736delinsG (p.Leu1578fs)indel Pathogenic 51704 rs276174846 13:32913223-32913228 13:32339086-32339091
42 BRCA2 NM_000059.3(BRCA2):c.4742_4743insTG (p.Glu1581fs)insertion Pathogenic 51707 rs276174847 13:32913234-32913235 13:32339097-32339098
43 BRCA2 NM_000059.4(BRCA2):c.475+1G>ASNV Pathogenic 51708 rs81002797 13:32900288-32900288 13:32326151-32326151
44 BRCA2 NM_000059.3(BRCA2):c.475+1G>TSNV Pathogenic 51709 rs81002797 13:32900288-32900288 13:32326151-32326151
45 BRCA2 NM_000059.3(BRCA2):c.4766del (p.Pro1589fs)deletion Pathogenic 51713 rs397507741 13:32913255-32913255 13:32339118-32339118
46 BRCA2 NM_000059.3(BRCA2):c.4780del (p.Met1594fs)deletion Pathogenic 51714 rs397507742 13:32913270-32913270 13:32339133-32339133
47 BRCA2 NM_000059.3(BRCA2):c.4797del (p.Asn1599fs)deletion Pathogenic 51715 rs80359465 13:32913289-32913289 13:32339152-32339152
48 BRCA2 NM_000059.3(BRCA2):c.4808dupA (p.Asn1603Lysfs)duplication Pathogenic 51719 rs80359466 13:32913295-32913296 13:32339158-32339159
49 BRCA2 NM_000059.3(BRCA2):c.4828dup (p.Val1610fs)duplication Pathogenic 51720 rs397507744 13:32913319-32913320 13:32339182-32339183
50 BRCA2 NM_000059.4(BRCA2):c.4827_4828TG[1] (p.Val1610fs)short repeat Pathogenic 51721 rs80359468 13:32913321-32913322 13:32339182-32339183

Expression for Breast-Ovarian Cancer, Familial 2

Search GEO for disease gene expression data for Breast-Ovarian Cancer, Familial 2.

Pathways for Breast-Ovarian Cancer, Familial 2

Pathways related to Breast-Ovarian Cancer, Familial 2 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Show member pathways
11.33 BRCA2 BRCA1
2 10.92 BRCA2 BRCA1
3
Show member pathways
10.54 BRCA2 BRCA1

GO Terms for Breast-Ovarian Cancer, Familial 2

Cellular components related to Breast-Ovarian Cancer, Familial 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 lateral element GO:0000800 8.62 BRCA2 BRCA1

Biological processes related to Breast-Ovarian Cancer, Familial 2 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA recombination GO:0006310 9.37 BRCA2 BRCA1
2 double-strand break repair via homologous recombination GO:0000724 9.32 BRCA2 BRCA1
3 double-strand break repair GO:0006302 9.26 BRCA2 BRCA1
4 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.16 BRCA2 BRCA1
5 DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator GO:0006978 8.96 BRCA2 BRCA1
6 chordate embryonic development GO:0043009 8.62 BRCA2 BRCA1

Sources for Breast-Ovarian Cancer, Familial 2

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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