BROVCA2
MCID: BRS111
MIFTS: 49

Breast-Ovarian Cancer, Familial 2 (BROVCA2)

Categories: Cancer diseases, Genetic diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Breast-Ovarian Cancer, Familial 2

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

Name: Breast-Ovarian Cancer, Familial 2 57
Breast-Ovarian Cancer, Familial, Susceptibility to, 2 57 28 5
Breast-Ovarian Cancer, Familial, 2 57 73 12
Brovca2 57 73
Cancer, Breast-Ovarian, Familial, Susceptibility to, Type 2 38
Ovarian Cancer Familial 2 73
Breast Cancer Familial 2 73
Hboc2 57

Characteristics:


Inheritance:

Autosomal dominant 57

OMIM®:

57 (Updated 24-Oct-2022)
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%


Classifications:



External Ids:

OMIM® 57 612555
OMIM Phenotypic Series 57 PS604370
SNOMED-CT via HPO 69 123843001 254838004

Summaries for Breast-Ovarian Cancer, Familial 2

UniProtKB/Swiss-Prot: 73 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.

MalaCards based summary: Breast-Ovarian Cancer, Familial 2, also known as breast-ovarian cancer, familial, susceptibility to, 2, is related to breast-ovarian cancer, familial 1 and hereditary site-specific ovarian cancer syndrome. An important gene associated with Breast-Ovarian Cancer, Familial 2 is BRCA2 (BRCA2 DNA Repair Associated), and among its related pathways/superpathways are Homologous DNA Pairing and Strand Exchange and Meiosis. Affiliated tissues include breast, prostate and ovary, and related phenotypes are breast carcinoma and ovarian neoplasm

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 77)
# Related Disease Score Top Affiliating Genes
1 breast-ovarian cancer, familial 1 31.3 BRCA2 BRCA1
2 hereditary site-specific ovarian cancer syndrome 9.9 BRCA2 BRCA1
3 basaloid lung carcinoma 9.9 BRCA2 BRCA1
4 ovary transitional cell carcinoma 9.9 BRCA2 BRCA1
5 cancerophobia 9.9 BRCA2 BRCA1
6 nosophobia 9.9 BRCA2 BRCA1
7 hereditary breast cancer 9.9 BRCA2 BRCA1
8 fanconi anemia, complementation group n 9.9 BRCA2 BRCA1
9 endosalpingiosis 9.9 BRCA2 BRCA1
10 polyposis syndrome, hereditary mixed, 1 9.9 BRCA2 BRCA1
11 ovarian cancer 1 9.9 BRCA2 BRCA1
12 ovarian carcinosarcoma 9.9 BRCA2 BRCA1
13 synchronous bilateral breast carcinoma 9.9 BRCA2 BRCA1
14 dysplastic nevus syndrome 9.9 BRCA2 BRCA1
15 lobular neoplasia 9.9 BRCA2 BRCA1
16 hypertrophy of breast 9.9 BRCA2 BRCA1
17 fanconi anemia, complementation group d1 9.9 BRCA2 BRCA1
18 female reproductive endometrioid cancer 9.9 BRCA2 BRCA1
19 papillary serous adenocarcinoma 9.9 BRCA2 BRCA1
20 peritoneum cancer 9.9 BRCA2 BRCA1
21 estrogen-receptor negative breast cancer 9.9 BRCA2 BRCA1
22 fallopian tube disease 9.9 BRCA2 BRCA1
23 mismatch repair cancer syndrome 9.9 BRCA2 BRCA1
24 thoracic benign neoplasm 9.9 BRCA2 BRCA1
25 breast benign neoplasm 9.9 BRCA2 BRCA1
26 breast lobular carcinoma 9.9 BRCA2 BRCA1
27 sporadic breast cancer 9.9 BRCA2 BRCA1
28 lynch syndrome i 9.9 BRCA2 BRCA1
29 lynch syndrome 9.9 BRCA2 BRCA1
30 bilateral breast cancer 9.9 BRCA2 BRCA1
31 ovarian serous carcinoma 9.9 BRCA2 BRCA1
32 diffuse gastric cancer 9.9 BRCA2 BRCA1
33 estrogen-receptor positive breast cancer 9.9 BRCA2 BRCA1
34 muir-torre syndrome 9.9 BRCA2 BRCA1
35 diffuse gastric and lobular breast cancer syndrome 9.9 BRCA2 BRCA1
36 fanconi anemia, complementation group d2 9.9 BRCA2 BRCA1
37 fallopian tube carcinoma 9.9 BRCA2 BRCA1
38 breast fibroadenoma 9.8 BRCA2 BRCA1
39 breast carcinoma in situ 9.8 BRCA2 BRCA1
40 ovarian cystadenocarcinoma 9.8 BRCA2 BRCA1
41 cystadenocarcinoma 9.8 BRCA2 BRCA1
42 serous cystadenocarcinoma 9.8 BRCA2 BRCA1
43 female breast cancer 9.8 BRCA2 BRCA1
44 ductal carcinoma in situ 9.8 BRCA2 BRCA1
45 autosomal recessive cerebellar ataxia 9.8 BRCA2 BRCA1
46 in situ carcinoma 9.8 BRCA2 BRCA1
47 testicular disease 9.8 BRCA2 BRCA1
48 pre-malignant neoplasm 9.8 BRCA2 BRCA1
49 uterine corpus cancer 9.8 BRCA2 BRCA1
50 ovary adenocarcinoma 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:

30
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 breast carcinoma 30 HP:0003002
2 ovarian neoplasm 30 HP:0100615

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
Neoplasia:
breast cancer
ovarian cancer

Clinical features from OMIM®:

612555 (Updated 24-Oct-2022)

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

25
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased homologous recombination repair frequency GR00151-A-1 9.56 BRCA1
2 Decreased homologous recombination repair frequency GR00151-A-2 9.56 BRCA1
3 Decreased homologous recombination repair frequency GR00236-A-1 9.56 BRCA1 BRCA2
4 Decreased homologous recombination repair frequency GR00236-A-2 9.56 BRCA1 BRCA2
5 Decreased homologous recombination repair frequency GR00236-A-3 9.56 BRCA1 BRCA2
6 Upregulation of Wnt/beta-catenin pathway after WNT3A stimulation GR00016-A 9.32 BRCA1 BRCA2
7 Synthetic lethal with cisplatin GR00101-A-1 9.26 BRCA1 BRCA2
8 Decreased viability with cisplatin GR00101-A-4 9.16 BRCA1 BRCA2
9 Decreased viability after ionizing radiation GR00232-A-2 8.62 BRCA1 BRCA2

Drugs & Therapeutics for Breast-Ovarian Cancer, Familial 2

Search Clinical Trials, 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, Susceptibility to, 2 28 BRCA2

Anatomical Context for Breast-Ovarian Cancer, Familial 2

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

MalaCards : Breast, Prostate, Ovary, Myeloid, Kidney, Lung, Brain

Publications for Breast-Ovarian Cancer, Familial 2

Articles related to Breast-Ovarian Cancer, Familial 2:

(show top 50) (show all 469)
# Title Authors PMID Year
1
BRCA1 and BRCA2 mutations in women of different ethnicities undergoing testing for hereditary breast-ovarian cancer. 57 5
19241424 2009
2
Screening for BRCA1 and BRCA2 mutations in Eastern Finnish breast/ovarian cancer families. 57 5
17850627 2007
3
Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan. 57 5
12181777 2002
4
Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer. 57 5
11179017 2001
5
Cancer risks in BRCA2 mutation carriers. 57 5
10433620 1999
6
Global sequence diversity of BRCA2: analysis of 71 breast cancer families and 95 control individuals of worldwide populations. 57 5
9971877 1999
7
Founder BRCA1 and BRCA2 mutations in French Canadian breast and ovarian cancer families. 57 5
9792861 1998
8
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. 57 5
9585613 1998
9
The risk of cancer associated with specific mutations of BRCA1 and BRCA2 among Ashkenazi Jews. 57 5
9145676 1997
10
Pathology of familial breast cancer: differences between breast cancers in carriers of BRCA1 or BRCA2 mutations and sporadic cases. Breast Cancer Linkage Consortium. 57 5
9167459 1997
11
Mutation analysis of BRCA1 and BRCA2 in a male breast cancer population. 57 5
9012404 1997
12
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. 57 5
8589730 1996
13
Identification of the breast cancer susceptibility gene BRCA2. 57 5
8524414 1995
14
Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. 57 5
8075631 1994
15
Actionable secondary findings following exome sequencing of 836 non-obstructive azoospermia cases and their value in patient management. 5
35535697 2022
16
BRCA1 and BRCA2 Germline Mutation Analysis in Hereditary Breast/Ovarian Cancer Families from the Aures Region (Eastern Algeria): First Report. 5
30715675 2020
17
The spectrum of BRCA1 and BRCA2 pathogenic sequence variants in Middle Eastern, North African, and South European countries. 5
31209999 2019
18
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification. 5
31131967 2019
19
Frequency of Pathogenic Germline Variants in CDH1, BRCA2, CHEK2, PALB2, BRCA1, and TP53 in Sporadic Lobular Breast Cancer. 5
31263054 2019
20
High prevalence of cancer-associated TP53 variants in the gnomAD database: A word of caution concerning the use of variant filtering. 5
30720243 2019
21
Genomic profiling in ovarian cancer retreated with platinum based chemotherapy presented homologous recombination deficiency and copy number imbalances of CCNE1 and RB1 genes. 5
31060523 2019
22
The functional impact of variants of uncertain significance in BRCA2. 5
29988080 2019
23
Prevalence of BRCA1 and BRCA2 pathogenic and likely pathogenic variants in non-selected ovarian carcinoma patients in Brazil. 5
30606148 2019
24
A portrait of germline mutation in Brazilian at-risk for hereditary breast cancer. 5
30159786 2018
25
Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion. 5
30192042 2018
26
Hereditary cancer screening: Case reports and review of literature on ten Ashkenazi Jewish founder mutations. 5
30152102 2018
27
Rare loss of function variants in candidate genes and risk of colorectal cancer. 5
30267214 2018
28
Talazoparib in Patients with Advanced Breast Cancer and a Germline BRCA Mutation. 57
30110579 2018
29
Germline mutations in young non-smoking women with lung adenocarcinoma. 5
30032850 2018
30
Detection of Germline Mutations in Patients with Epithelial Ovarian Cancer Using Multi-gene Panels: Beyond BRCA1/2. 5
29020732 2018
31
Screening of over 1000 Indian patients with breast and/or ovarian cancer with a multi-gene panel: prevalence of BRCA1/2 and non-BRCA mutations. 5
29470806 2018
32
The germline mutational landscape of BRCA1 and BRCA2 in Brazil. 5
29907814 2018
33
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. 5
29446198 2018
34
Full in-frame exon 3 skipping of BRCA2 confers high risk of breast and/or ovarian cancer. 5
29707112 2018
35
Inherited mutations in BRCA1 and BRCA2 in an unselected multiethnic cohort of Asian patients with breast cancer and healthy controls from Malaysia. 5
28993434 2018
36
Germline BRCA mutation and outcome in young-onset breast cancer (POSH): a prospective cohort study. 5
29337092 2018
37
Germline BRCA mutations in Asian patients with pancreatic adenocarcinoma: a prospective study evaluating risk category for genetic testing. 5
28782087 2018
38
Location of Mutation in BRCA2 Gene and Survival in Patients with Ovarian Cancer. 5
29084914 2018
39
BRCA1 and BRCA2 mutation spectrum - an update on mutation distribution in a large cancer genetics clinic in Norway. 5
29339979 2018
40
Prevalence of pathogenic germline variants detected by multigene sequencing in unselected Japanese patients with ovarian cancer. 5
29348823 2017
41
BRCA1/2 missense mutations and the value of in-silico analyses. 5
28807866 2017
42
Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical-pathological features in BRCA carriers and non-carriers. 5
28477318 2017
43
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls. 5
28111427 2017
44
Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria. 5
28492532 2017
45
Assessing the spectrum of germline variation in Fanconi anemia genes among patients with head and neck carcinoma before age 50. 5
28678401 2017
46
Mutation Detection in Patients With Advanced Cancer by Universal Sequencing of Cancer-Related Genes in Tumor and Normal DNA vs Guideline-Based Germline Testing. 5
28873162 2017
47
Multiple-gene panel analysis in a case series of 255 women with hereditary breast and ovarian cancer. 5
28423363 2017
48
The spectrum of BRCA mutations and characteristics of BRCA-associated breast cancers in China: Screening of 2,991 patients and 1,043 controls by next-generation sequencing. 5
28294317 2017
49
Tumor BRCA1 Reversion Mutation Arising during Neoadjuvant Platinum-Based Chemotherapy in Triple-Negative Breast Cancer Is Associated with Therapy Resistance. 5
28087643 2017
50
Current guidelines for BRCA testing of breast cancer patients are insufficient to detect all mutation carriers. 5
28637432 2017

Variations for Breast-Ovarian Cancer, Familial 2

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

5 (show top 50) (show all 5779)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 BRCA2 NM_000059.4(BRCA2):c.1799A>G (p.Tyr600Cys) SNV Pathogenic
37757 rs397507276 GRCh37: 13:32907414-32907414
GRCh38: 13:32333277-32333277
2 BRCA2 NM_000059.4(BRCA2):c.1850C>G (p.Ser617Ter) SNV Pathogenic
Pathogenic
37766 rs397507278 GRCh37: 13:32907465-32907465
GRCh38: 13:32333328-32333328
3 BRCA2 NM_000059.4(BRCA2):c.2618_2619del (p.Ile873fs) DEL Pathogenic
37795 rs397507290 GRCh37: 13:32911109-32911110
GRCh38: 13:32336972-32336973
4 BRCA2 NM_000059.3(BRCA2):c.1189_1190ins4 INSERT Pathogenic
37728 GRCh37: 13:32906804-32906805
GRCh38: 13:32332667-32332668
5 BRCA2 NM_000059.4(BRCA2):c.1253C>A (p.Ser418Ter) SNV Pathogenic
Pathogenic
37732 rs397507266 GRCh37: 13:32906868-32906868
GRCh38: 13:32332731-32332731
6 BRCA2 NM_000059.4(BRCA2):c.3073A>T (p.Lys1025Ter) SNV Pathogenic
Conflicting Interpretations Of Pathogenicity
37818 rs80358550 GRCh37: 13:32911565-32911565
GRCh38: 13:32337428-32337428
7 BRCA2 NM_000059.3(BRCA2):c.3978_3979ins4 INSERT Pathogenic
37870 GRCh37: 13:32912470-32912471
GRCh38: 13:32338333-32338334
8 BRCA2 NM_000059.3(BRCA2):c.4131_4132ins6 INSERT Pathogenic
37881 GRCh37: 13:32912623-32912624
GRCh38: 13:32338486-32338487
9 BRCA2 NM_000059.4(BRCA2):c.4921_4924del (p.Glu1641fs) DEL Pathogenic
37933 rs397507344 GRCh37: 13:32913413-32913416
GRCh38: 13:32339276-32339279
10 BRCA2 NM_000059.4(BRCA2):c.3182del (p.Lys1061fs) DEL Pathogenic
37827 rs397507304 GRCh37: 13:32911673-32911673
GRCh38: 13:32337536-32337536
11 BRCA2 NM_000059.3(BRCA2):c.7185_7190delinsAG (p.His2395fs) INDEL Pathogenic
38087 rs397507383 GRCh37: 13:32929175-32929180
GRCh38: 13:32355038-32355043
12 BRCA2 NM_000059.3(BRCA2):c.740_741insAG (p.Ser249fs) INSERT Pathogenic
38092 rs397507387 GRCh37: 13:32905114-32905115
GRCh38: 13:32330977-32330978
13 BRCA2 NM_000059.3(BRCA2):c.7762_7764delATAins2 INDEL Pathogenic
38117 GRCh37: 13:32932023-32932025
GRCh38: 13:32357886-32357888
14 BRCA2 NM_000059.3(BRCA2):c.7977-3_7977-1del3ins2 INDEL Pathogenic
38133 GRCh37: 13:32937313-32937315
GRCh38: 13:32363176-32363178
15 BRCA2 NM_000059.3(BRCA2):c.8754+2T>G SNV Pathogenic
38181 rs397507412 GRCh37: 13:32950930-32950930
GRCh38: 13:32376793-32376793
16 BRCA2 NM_000059.4(BRCA2):c.9060_9061insTT (p.Glu3021fs) INSERT Pathogenic
Pathogenic
38206 rs397507418 GRCh37: 13:32953992-32953993
GRCh38: 13:32379855-32379856
17 BRCA2 NM_000059.3(BRCA2):c.5343_5344insA (p.Gln1782fs) INSERT Pathogenic
91412 rs398122530 GRCh37: 13:32913835-32913836
GRCh38: 13:32339698-32339699
18 BRCA2 NM_000059.4(BRCA2):c.6586A>T (p.Lys2196Ter) SNV Pathogenic
91453 rs398122561 GRCh37: 13:32915078-32915078
GRCh38: 13:32340941-32340941
19 BRCA2 NM_000059.3(BRCA2):c.6996_7004delTGTACCCTTins20 (p.?) INDEL Pathogenic
91468 GRCh37: 13:32921022-32921030
GRCh38: 13:32346885-32346893
20 BRCA2 NM_000059.4(BRCA2):c.6018_6019dup (p.Thr2007fs) DUP Pathogenic
91434 rs398122545 GRCh37: 13:32914509-32914510
GRCh38: 13:32340372-32340373
21 BRCA2 NM_000059.3(BRCA2):c.8331+2T>A SNV Pathogenic
Pathogenic
91507 rs398122602 GRCh37: 13:32937672-32937672
GRCh38: 13:32363535-32363535
22 BRCA2 NM_000059.4(BRCA2):c.8374del (p.Gly2793fs) DEL Pathogenic
91510 rs398122605 GRCh37: 13:32944581-32944581
GRCh38: 13:32370444-32370444
23 BRCA2 NM_000059.3(BRCA2):c.8400_8402delTTTins4 INDEL Pathogenic
91512 GRCh37: 13:32944607-32944609
GRCh38: 13:32370470-32370472
24 BRCA2 NM_000059.4(BRCA2):c.9060del (p.Glu3021fs) DEL Pathogenic
91516 rs398122609 GRCh37: 13:32953993-32953993
GRCh38: 13:32379856-32379856
25 BRCA2 NM_000059.4(BRCA2):c.9824del (p.Ser3275fs) DEL Pathogenic
91535 rs398122623 GRCh37: 13:32972474-32972474
GRCh38: 13:32398337-32398337
26 BRCA2 NP_000050.2(BRCA2):p.Asp3095Glu PROTEIN Pathogenic
91671 GRCh37:
GRCh38:
27 BRCA2 NP_000050.2(BRCA2):p.Leu557Ter PROTEIN Pathogenic
91678 GRCh37:
GRCh38:
28 BRCA2 NP_000050.2(BRCA2):p.Ser1630Ter PROTEIN Pathogenic
91685 GRCh37:
GRCh38:
29 BRCA2 NP_000050.2(BRCA2):p.Ser1760Ter PROTEIN Pathogenic
91686 GRCh37:
GRCh38:
30 BRCA2 NP_000050.2(BRCA2):p.Ser1882Ter PROTEIN Pathogenic
91687 GRCh37:
GRCh38:
31 BRCA2 NP_000050.2(BRCA2):p.Ser1955Ter PROTEIN Pathogenic
91688 GRCh37:
GRCh38:
32 BRCA2 NP_000050.2(BRCA2):p.Ser1970Ter PROTEIN Pathogenic
91689 GRCh37:
GRCh38:
33 BRCA2 NP_000050.2(BRCA2):p.Ser2984Ter PROTEIN Pathogenic
91691 GRCh37:
GRCh38:
34 BRCA2 NP_000050.2(BRCA2):p.Ser2994Ter PROTEIN Pathogenic
91692 GRCh37:
GRCh38:
35 BRCA2 NP_000050.2(BRCA2):p.Ser611Ter PROTEIN Pathogenic
91693 GRCh37:
GRCh38:
36 BRCA2 NP_000050.2(BRCA2):p.Ser780Ter PROTEIN Pathogenic
91694 GRCh37:
GRCh38:
37 BRCA2 NP_000050.2(BRCA2):p.Ser869Ter PROTEIN Pathogenic
91695 GRCh37:
GRCh38:
38 BRCA2 NP_000050.2(BRCA2):p.Met1Ile PROTEIN Pathogenic
91683 GRCh37:
GRCh38:
39 BRCA2 NP_000050.2(BRCA2):p.Trp2586Ter PROTEIN Pathogenic
91697 GRCh37:
GRCh38:
40 BRCA2 NP_000050.2(BRCA2):p.Trp3127Ter PROTEIN Pathogenic
91699 GRCh37:
GRCh38:
41 BRCA2 NP_000050.2(BRCA2):p.Trp993Ter PROTEIN Pathogenic
91700 GRCh37:
GRCh38:
42 BRCA2 NP_000050.2(BRCA2):p.Tyr1655Ter PROTEIN Pathogenic
91701 GRCh37:
GRCh38:
43 BRCA2 NP_000050.2(BRCA2):p.Tyr1894Ter PROTEIN Pathogenic
91702 GRCh37:
GRCh38:
44 BRCA2 NP_000050.2(BRCA2):p.Tyr3308Ter PROTEIN Pathogenic
91703 GRCh37:
GRCh38:
45 BRCA2 NP_000050.2(BRCA2):p.Tyr792Ter PROTEIN Pathogenic
91704 GRCh37:
GRCh38:
46 BRCA2 NM_000059.4(BRCA2):c.2881C>T (p.Gln961Ter) SNV Pathogenic
51365 rs80358538 GRCh37: 13:32911373-32911373
GRCh38: 13:32337236-32337236
47 BRCA2 NM_000059.4(BRCA2):c.186del (p.Phe62fs) DEL Pathogenic
91761 rs398122733 GRCh37: 13:32893330-32893330
GRCh38: 13:32319193-32319193
48 BRCA2 NM_000059.4(BRCA2):c.2025del (p.Cys676fs) DEL Pathogenic
91766 rs398122737 GRCh37: 13:32910517-32910517
GRCh38: 13:32336380-32336380
49 BRCA2 NM_000059.4(BRCA2):c.217C>T (p.Gln73Ter) SNV Pathogenic
91770 rs398122741 GRCh37: 13:32893363-32893363
GRCh38: 13:32319226-32319226
50 BRCA2 NM_000059.4(BRCA2):c.2370del (p.Glu790fs) DEL Pathogenic
91777 rs398122747 GRCh37: 13:32910861-32910861
GRCh38: 13:32336724-32336724

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:

(show all 11)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
12.15 BRCA2 BRCA1
2
Show member pathways
12.11 BRCA2 BRCA1
3
Show member pathways
11.99 BRCA2 BRCA1
4
Show member pathways
11.99 BRCA2 BRCA1
5 11.88 BRCA2 BRCA1
6
Show member pathways
11.8 BRCA2 BRCA1
7
Show member pathways
11.66 BRCA2 BRCA1
8 11.44 BRCA2 BRCA1
9
Show member pathways
11.15 BRCA2 BRCA1
10
Show member pathways
10.87 BRCA2 BRCA1
11 10.53 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 9.46 BRCA2 BRCA1
2 DNA repair complex GO:1990391 9.26 BRCA2 BRCA1
3 nuclear ubiquitin ligase complex GO:0000152 8.92 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 double-strand break repair via homologous recombination GO:0000724 9.76 BRCA2 BRCA1
2 protein autoubiquitination GO:0051865 9.71 BRCA2 BRCA1
3 double-strand break repair GO:0006302 9.67 BRCA2 BRCA1
4 cellular response to ionizing radiation GO:0071479 9.56 BRCA2 BRCA1
5 intrinsic apoptotic signaling pathway in response to DNA damage GO:0008630 9.5 BRCA2 BRCA1
6 histone H2A monoubiquitination GO:0035518 9.46 BRCA2 BRCA1
7 DNA recombination GO:0006310 9.43 BRCA2 BRCA1
8 regulation of DNA damage checkpoint GO:2000001 9.26 BRCA2 BRCA1
9 chordate embryonic development GO:0043009 8.8 BRCA2 BRCA1

Sources for Breast-Ovarian Cancer, Familial 2

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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