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 32.9 BRCA2 BRCA1
2 breast-ovarian cancer, familial 1 31.9 BRCA2 BRCA1
3 bilateral breast cancer 30.2 BRCA2 BRCA1
4 sporadic breast cancer 30.0 BRCA2 BRCA1
5 li-fraumeni syndrome 29.8 BRCA2 BRCA1
6 cowden syndrome 29.7 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 hereditary site-specific ovarian cancer syndrome 9.9 BRCA2 BRCA1
25 rare malignant breast tumor 9.9 BRCA2 BRCA1
26 synchronous bilateral breast carcinoma 9.9 BRCA2 BRCA1
27 breast juvenile papillomatosis 9.9 BRCA2 BRCA1
28 familial ovarian cancer 9.9 BRCA2 BRCA1
29 tetraploidy 9.9 BRCA2 BRCA1
30 cancerophobia 9.9 BRCA2 BRCA1
31 nosophobia 9.9 BRCA2 BRCA1
32 endosalpingiosis 9.9 BRCA2 BRCA1
33 mutagen sensitivity 9.9 BRCA2 BRCA1
34 primary peritoneal carcinoma 9.9 BRCA2 BRCA1
35 intracystic papillary adenoma 9.9 BRCA2 BRCA1
36 hypertrophy of breast 9.9 BRCA2 BRCA1
37 dysplastic nevus syndrome 9.8 BRCA2 BRCA1
38 peritoneum cancer 9.8 BRCA2 BRCA1
39 female reproductive endometrioid cancer 9.8 BRCA2 BRCA1
40 premature menopause 9.8 BRCA2 BRCA1
41 papillary serous adenocarcinoma 9.8 BRCA2 BRCA1
42 fallopian tube disease 9.8 BRCA2 BRCA1
43 lobular neoplasia 9.8 BRCA2 BRCA1
44 thoracic benign neoplasm 9.8 BRCA2 BRCA1
45 breast benign neoplasm 9.8 BRCA2 BRCA1
46 fanconi anemia, complementation group d1 9.8 BRCA2 BRCA1
47 myasthenic syndrome, congenital, 6, presynaptic 9.8 BRCA2 BRCA1
48 fanconi anemia, complementation group j 9.8 BRCA2 BRCA1
49 uterine corpus cancer 9.8 BRCA2 BRCA1
50 ovarian cystadenocarcinoma 9.8 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 6)
# 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
Ethanol Approved 64-17-5 702

Interventional clinical trials:

(show all 29)
# 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 Understanding Social, Cultural, and Religious Factors Influencing BRCA Genetic Testing in the Orthodox Jewish Community Completed NCT03624088
12 Strategies to Increase the Identification, Genetic Counseling Referral and Genetic Testing for Women at Risk for Hereditary Breast and/or Ovarian Cancer Completed NCT02786147
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 PROspective Evaluation of GErmline Mutations, Cancer Outcome and Tissue Biomarkers: A Registry for Patients With Triple Negative Breast Cancer and Germline Mutations Recruiting NCT02302742
17 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
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 HEALTH4Families: Optimizing a Weight Management and Health Behavior Intervention for BRCA+ and Lynch Syndrome Families Recruiting NCT04125914
22 Comparison of 3 Modes of Genetic Counseling in High-Risk Public Hospital Recruiting NCT03006913
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 Testing a Culturally Adapted Telephone Genetic Counseling Intervention to Enhance Genetic Risk Assessment in Underserved Latinas at Risk of Hereditary Breast and Ovarian Cancer Active, not recruiting NCT03959267
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

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, Ovary, Skin, Brain, Liver

Publications for Breast-Ovarian Cancer, Familial 2

Articles related to Breast-Ovarian Cancer, Familial 2:

(show top 50) (show all 967)
# 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. 56 6
8589730 1996
3
Identification of the breast cancer susceptibility gene BRCA2. 56 6
8524414 1995
4
Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. 56 6
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. 61 56
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
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. 6
25356965 2015
11
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
12
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 6
24493721 2014
13
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 6
24366376 2014
14
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
15
Functional assays for analysis of variants of uncertain significance in BRCA2. 6
24323938 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 6178) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 BRCA2 NM_000059.3(BRCA2):c.1185G>A (p.Trp395Ter)SNV Pathogenic 265053 rs886039315 13:32906800-32906800 13:32332663-32332663
2 BRCA2 NM_000059.3(BRCA2):c.1212del (p.Asn404fs)deletion Pathogenic 265369 rs886039504 13:32906827-32906827 13:32332690-32332690
3 BRCA2 NM_000059.3(BRCA2):c.5120del (p.Thr1707fs)deletion Pathogenic 265057 rs886039318 13:32913612-32913612 13:32339475-32339475
4 BRCA2 NM_000059.3(BRCA2):c.6481_6484del (p.Asp2161fs)deletion Pathogenic 265058 rs886039319 13:32914972-32914975 13:32340835-32340838
5 BRCA2 NM_000059.3(BRCA2):c.6727del (p.Ser2243fs)deletion Pathogenic 265059 rs886039320 13:32915218-32915218 13:32341081-32341081
6 BRCA2 NM_000059.3(BRCA2):c.7210_7216delinsTGTAG (p.Lys2404fs)indel Pathogenic 265550 rs397507904 13:32929200-32929206 13:32355063-32355069
7 BRCA2 NM_000059.3(BRCA2):c.48_50delinsATCGATCGAT (p.Thr17fs)indel Pathogenic 266834 rs483353081 13:32890645-32890647 13:32316508-32316510
8 BRCA2 NM_000059.3(BRCA2):c.48dup (p.Thr17fs)duplication Pathogenic 266836 rs886040552 13:32890644-32890645 13:32316507-32316508
9 BRCA2 NM_000059.3(BRCA2):c.52_61del (p.Arg18fs)deletion Pathogenic 266857 rs886040574 13:32890646-32890655 13:32316509-32316518
10 BRCA2 NM_000059.3(BRCA2):c.71T>G (p.Leu24Ter)SNV Pathogenic 266991 rs397507902 13:32893217-32893217 13:32319080-32319080
11 BRCA2 NM_000059.3(BRCA2):c.73G>T (p.Gly25Ter)SNV Pathogenic 267008 rs80358961 13:32893219-32893219 13:32319082-32319082
12 BRCA2 NM_000059.3(BRCA2):c.103dup (p.Leu35fs)duplication Pathogenic 266602 rs886040340 13:32893248-32893249 13:32319111-32319112
13 BRCA2 NM_000059.3(BRCA2):c.104_110del (p.Leu35fs)deletion Pathogenic 266603 rs886040341 13:32893249-32893255 13:32319112-32319118
14 BRCA2 NM_000059.3(BRCA2):c.109_112del (p.Ser37fs)deletion Pathogenic 266608 rs886040344 13:32893255-32893258 13:32319118-32319121
15 BRCA2 NM_000059.3(BRCA2):c.110C>A (p.Ser37Ter)SNV Pathogenic 266610 rs886040346 13:32893256-32893256 13:32319119-32319119
16 BRCA2 NM_000059.3(BRCA2):c.110C>G (p.Ser37Ter)SNV Pathogenic 266611 rs886040346 13:32893256-32893256 13:32319119-32319119
17 BRCA2 NM_000059.3(BRCA2):c.126T>A (p.Tyr42Ter)SNV Pathogenic 266621 rs886040353 13:32893272-32893272 13:32319135-32319135
18 BRCA2 NM_000059.3(BRCA2):c.127_128del (p.Asn43fs)deletion Pathogenic 266622 rs886040354 13:32893273-32893274 13:32319136-32319137
19 BRCA2 NM_000059.3(BRCA2):c.201_202dup (p.Lys68fs)duplication Pathogenic 266672 rs886040400 13:32893346-32893347 13:32319209-32319210
20 BRCA2 NM_000059.3(BRCA2):c.212dup (p.Tyr71Ter)duplication Pathogenic 266679 rs886040406 13:32893357-32893358 13:32319220-32319221
21 BRCA2 NM_000059.3(BRCA2):c.224_225insA (p.Ser76fs)insertion Pathogenic 266687 rs886040414 13:32893370-32893371 13:32319233-32319234
22 BRCA2 NM_000059.3(BRCA2):c.247G>T (p.Glu83Ter)SNV Pathogenic 266701 rs886040428 13:32893393-32893393 13:32319256-32319256
23 BRCA2 NM_000059.3(BRCA2):c.246_247AG[1] (p.Glu83fs)short repeat Pathogenic 266702 rs886040429 13:32893392-32893393 13:32319255-32319256
24 BRCA2 NM_000059.3(BRCA2):c.250del (p.Gln84fs)deletion Pathogenic 266705 rs886040432 13:32893396-32893396 13:32319259-32319259
25 BRCA2 NM_000059.3(BRCA2):c.271_272del (p.Tyr91fs)deletion Pathogenic 266715 rs886040441 13:32893417-32893418 13:32319280-32319281
26 BRCA2 NM_000059.3(BRCA2):c.368_372del (p.Lys123fs)deletion Pathogenic 266764 rs886040488 13:32899264-32899268 13:32325127-32325131
27 BRCA2 NM_000059.3(BRCA2):c.370_374del (p.Met124fs)deletion Pathogenic 266766 rs886040490 13:32899265-32899269 13:32325128-32325132
28 BRCA2 NM_000059.3(BRCA2):c.428dup (p.Val144fs)duplication Pathogenic 266800 rs886040519 13:32900238-32900239 13:32326101-32326102
29 BRCA2 NM_000059.3(BRCA2):c.433_437del (p.Val145fs)deletion Pathogenic 266804 rs886040523 13:32900244-32900248 13:32326107-32326111
30 BRCA2 NM_000059.3(BRCA2):c.441del (p.Gln147fs)deletion Pathogenic 266811 rs886040529 13:32900252-32900252 13:32326115-32326115
31 BRCA2 NM_000059.3(BRCA2):c.464_465GA[1] (p.Arg155_Asp156insTer)short repeat Pathogenic 266824 rs886040542 13:32900278-32900279 13:32326138-32326139
32 BRCA2 NM_000059.3(BRCA2):c.469_470insT (p.Lys157fs)insertion Pathogenic 266825 rs886040543 13:32900281-32900282 13:32326144-32326145
33 BRCA2 NM_000059.3(BRCA2):c.470del (p.Lys157fs)deletion Pathogenic 266826 rs886040544 13:32900281-32900281 13:32326144-32326144
34 BRCA2 NM_000059.3(BRCA2):c.470dup (p.Ser158fs)duplication Pathogenic 266827 rs886040544 13:32900280-32900281 13:32326143-32326144
35 BRCA2 NM_000059.3(BRCA2):c.471_472insA (p.Ser158fs)insertion Pathogenic 266828 rs886040546 13:32900283-32900284 13:32326146-32326147
36 BRCA2 NM_000059.3(BRCA2):c.473C>A (p.Ser158Ter)SNV Pathogenic 266829 rs80358701 13:32900285-32900285 13:32326148-32326148
37 BRCA2 NM_000059.3(BRCA2):c.506del (p.Lys169fs)deletion Pathogenic 266846 rs886040563 13:32900407-32900407 13:32326270-32326270
38 BRCA2 NM_000059.3(BRCA2):c.566_567insG (p.Asp189fs)insertion Pathogenic 266888 rs886040603 13:32900685-32900686 13:32326548-32326549
39 BRCA2 NM_000059.3(BRCA2):c.568_575del (p.Pro190fs)deletion Pathogenic 266890 rs886040605 13:32900685-32900692 13:32326548-32326555
40 BRCA2 NM_000059.3(BRCA2):c.569_570insAACG (p.Asp191fs)insertion Pathogenic 266891 rs886040606 13:32900688-32900689 13:32326551-32326552
41 BRCA2 NM_000059.3(BRCA2):c.583del (p.Ser195fs)deletion Pathogenic 266900 rs886040615 13:32900702-32900702 13:32326565-32326565
42 BRCA2 NM_000059.3(BRCA2):c.594_598dup (p.Thr200fs)duplication Pathogenic 266905 rs886040620 13:32900712-32900713 13:32326575-32326576
43 BRCA2 NM_000059.3(BRCA2):c.595_598del (p.Ala199fs)deletion Pathogenic 266907 rs886040622 13:32900712-32900715 13:32326575-32326578
44 BRCA2 NM_000059.3(BRCA2):c.613_614insTGAG (p.Ser205fs)insertion Pathogenic 266925 rs1555281101 13:32900732-32900733 13:32326595-32326596
45 BRCA2 NM_000059.3(BRCA2):c.643G>T (p.Glu215Ter)SNV Pathogenic 266948 rs774539540 13:32903591-32903591 13:32329454-32329454
46 BRCA2 NM_000059.3(BRCA2):c.664_665del (p.Pro222fs)deletion Pathogenic 266968 rs886040671 13:32903612-32903613 13:32329475-32329476
47 BRCA2 NM_000059.3(BRCA2):c.694dup (p.Tyr232fs)duplication Pathogenic 266975 rs886040677 13:32905067-32905068 13:32330930-32330931
48 BRCA2 NM_000059.3(BRCA2):c.715dup (p.Ser239fs)duplication Pathogenic 266988 rs431825350 13:32905086-32905087 13:32330949-32330950
49 BRCA2 NM_000059.3(BRCA2):c.723del (p.Asn243fs)deletion Pathogenic 266995 rs886040694 13:32905097-32905097 13:32330960-32330960
50 BRCA2 NM_000059.3(BRCA2):c.728dup (p.Asn243fs)duplication Pathogenic 266998 rs886040697 13:32905097-32905098 13:32330960-32330961

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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