BROVCA2
MCID: BRS111
MIFTS: 19

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 58 30 6
Breast-Ovarian Cancer, Familial, 2 58 76 13
Brovca2 58 76
Breast-Ovarian Cancer, Familial, Susceptibility to, 2 58
Ovarian Cancer Familial 2 76
Breast Cancer Familial 2 76

Characteristics:

OMIM:

58
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:

33
breast-ovarian cancer, familial 2:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 58 612555
SNOMED-CT via HPO 70 123843001 254838004 263681008

Summaries for Breast-Ovarian Cancer, Familial 2

UniProtKB/Swiss-Prot : 76 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.

MalaCards based summary : Breast-Ovarian Cancer, Familial 2, also known as breast-ovarian cancer, familial, 2, is related to brca2 hereditary breast and ovarian cancer syndrome. An important gene associated with Breast-Ovarian Cancer, Familial 2 is BRCA2 (BRCA2 DNA Repair Associated). Affiliated tissues include breast, ovary and prostate, and related phenotypes are breast carcinoma and ovarian neoplasm

Description from OMIM: 612555

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:

# Related Disease Score Top Affiliating Genes
1 brca2 hereditary breast and ovarian cancer syndrome 11.1

Symptoms & Phenotypes for Breast-Ovarian Cancer, Familial 2

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

33
# Description HPO Frequency HPO Source Accession
1 breast carcinoma 33 HP:0003002
2 ovarian neoplasm 33 HP:0100615

Symptoms via clinical synopsis from OMIM:

58
Neoplasia:
breast cancer
ovarian cancer

Clinical features from OMIM:

612555

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 2 30 BRCA2

Anatomical Context for Breast-Ovarian Cancer, Familial 2

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

42
Breast, Ovary, Prostate

Publications for Breast-Ovarian Cancer, Familial 2

Variations for Breast-Ovarian Cancer, Familial 2

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

6 (show top 50) (show all 11945)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA2 NM_000059.3(BRCA2): c.787dupA (p.Ser263Lysfs) duplication Pathogenic rs690016538 GRCh38 Chromosome 13, 32331024: 32331024
2 BRCA2 NM_000059.3(BRCA2): c.787dupA (p.Ser263Lysfs) duplication Pathogenic rs690016538 GRCh37 Chromosome 13, 32905161: 32905161
3 BRCA2 NM_000059.3(BRCA2): c.3280A> T (p.Lys1094Ter) single nucleotide variant Pathogenic rs690016539 GRCh38 Chromosome 13, 32337635: 32337635
4 BRCA2 NM_000059.3(BRCA2): c.3280A> T (p.Lys1094Ter) single nucleotide variant Pathogenic rs690016539 GRCh37 Chromosome 13, 32911772: 32911772
5 BRCA2 NM_000059.3(BRCA2): c.3291dupT (p.Asn1098Terfs) duplication Pathogenic rs690016540 GRCh38 Chromosome 13, 32337646: 32337646
6 BRCA2 NM_000059.3(BRCA2): c.3291dupT (p.Asn1098Terfs) duplication Pathogenic rs690016540 GRCh37 Chromosome 13, 32911783: 32911783
7 BRCA2 NM_000059.3(BRCA2): c.3641delT (p.Val1214Glyfs) deletion Pathogenic rs690016542 GRCh38 Chromosome 13, 32337996: 32337996
8 BRCA2 NM_000059.3(BRCA2): c.3641delT (p.Val1214Glyfs) deletion Pathogenic rs690016542 GRCh37 Chromosome 13, 32912133: 32912133
9 BRCA2 NM_000059.3(BRCA2): c.452T> C (p.Val151Ala) single nucleotide variant Uncertain significance rs730881503 GRCh38 Chromosome 13, 32326127: 32326127
10 BRCA2 NM_000059.3(BRCA2): c.452T> C (p.Val151Ala) single nucleotide variant Uncertain significance rs730881503 GRCh37 Chromosome 13, 32900264: 32900264
11 BRCA2 NM_000059.3(BRCA2): c.517G> C (p.Gly173Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397507768 GRCh38 Chromosome 13, 32326499: 32326499
12 BRCA2 NM_000059.3(BRCA2): c.517G> C (p.Gly173Arg) single nucleotide variant Conflicting interpretations of pathogenicity rs397507768 GRCh37 Chromosome 13, 32900636: 32900636
13 BRCA2 NM_000059.3(BRCA2): c.534A> G (p.Lys178=) single nucleotide variant Likely benign rs28897703 GRCh38 Chromosome 13, 32326516: 32326516
14 BRCA2 NM_000059.3(BRCA2): c.534A> G (p.Lys178=) single nucleotide variant Likely benign rs28897703 GRCh37 Chromosome 13, 32900653: 32900653
15 BRCA2 NM_000059.3(BRCA2): c.627C> T (p.Leu209=) single nucleotide variant Likely benign rs28897704 GRCh38 Chromosome 13, 32326609: 32326609
16 BRCA2 NM_000059.3(BRCA2): c.627C> T (p.Leu209=) single nucleotide variant Likely benign rs28897704 GRCh37 Chromosome 13, 32900746: 32900746
17 BRCA2 NM_000059.3(BRCA2): c.670_673dupGATA (p.Thr225Argfs) duplication Pathogenic rs730881601 GRCh38 Chromosome 13, 32329481: 32329484
18 BRCA2 NM_000059.3(BRCA2): c.670_673dupGATA (p.Thr225Argfs) duplication Pathogenic rs730881601 GRCh37 Chromosome 13, 32903618: 32903621
19 BRCA2 NM_000059.3(BRCA2): c.1059A> G (p.Ser353=) single nucleotide variant Likely benign rs730881585 GRCh38 Chromosome 13, 32332537: 32332537
20 BRCA2 NM_000059.3(BRCA2): c.1059A> G (p.Ser353=) single nucleotide variant Likely benign rs730881585 GRCh37 Chromosome 13, 32906674: 32906674
21 BRCA2 NM_000059.3(BRCA2): c.1359A> T (p.Pro453=) single nucleotide variant Likely benign rs730881586 GRCh38 Chromosome 13, 32332837: 32332837
22 BRCA2 NM_000059.3(BRCA2): c.1359A> T (p.Pro453=) single nucleotide variant Likely benign rs730881586 GRCh37 Chromosome 13, 32906974: 32906974
23 BRCA2 NM_000059.3(BRCA2): c.1584C> T (p.Asn528=) single nucleotide variant Likely benign rs730881587 GRCh38 Chromosome 13, 32333062: 32333062
24 BRCA2 NM_000059.3(BRCA2): c.1584C> T (p.Asn528=) single nucleotide variant Likely benign rs730881587 GRCh37 Chromosome 13, 32907199: 32907199
25 BRCA2 NM_000059.3(BRCA2): c.2094A> G (p.Leu698=) single nucleotide variant Likely benign rs28897714 GRCh38 Chromosome 13, 32336449: 32336449
26 BRCA2 NM_000059.3(BRCA2): c.2094A> G (p.Leu698=) single nucleotide variant Likely benign rs28897714 GRCh37 Chromosome 13, 32910586: 32910586
27 BRCA2 NM_000059.3(BRCA2): c.2145A> G (p.Gly715=) single nucleotide variant Benign rs112566179 GRCh38 Chromosome 13, 32336500: 32336500
28 BRCA2 NM_000059.3(BRCA2): c.2145A> G (p.Gly715=) single nucleotide variant Benign rs112566179 GRCh37 Chromosome 13, 32910637: 32910637
29 BRCA2 NM_000059.3(BRCA2): c.2380dupA (p.Met794Asnfs) duplication Pathogenic rs730881602 GRCh38 Chromosome 13, 32336735: 32336735
30 BRCA2 NM_000059.3(BRCA2): c.2380dupA (p.Met794Asnfs) duplication Pathogenic rs730881602 GRCh37 Chromosome 13, 32910872: 32910872
31 BRCA2 NM_000059.3(BRCA2): c.2601T> G (p.Thr867=) single nucleotide variant Likely benign rs730881589 GRCh38 Chromosome 13, 32336956: 32336956
32 BRCA2 NM_000059.3(BRCA2): c.2601T> G (p.Thr867=) single nucleotide variant Likely benign rs730881589 GRCh37 Chromosome 13, 32911093: 32911093
33 BRCA2 NM_000059.3(BRCA2): c.2714A> G (p.Asn905Ser) single nucleotide variant Uncertain significance rs730881515 GRCh38 Chromosome 13, 32337069: 32337069
34 BRCA2 NM_000059.3(BRCA2): c.2714A> G (p.Asn905Ser) single nucleotide variant Uncertain significance rs730881515 GRCh37 Chromosome 13, 32911206: 32911206
35 BRCA2 NM_000059.3(BRCA2): c.2843T> C (p.Val948Ala) single nucleotide variant Uncertain significance rs730881517 GRCh38 Chromosome 13, 32337198: 32337198
36 BRCA2 NM_000059.3(BRCA2): c.2843T> C (p.Val948Ala) single nucleotide variant Uncertain significance rs730881517 GRCh37 Chromosome 13, 32911335: 32911335
37 BRCA2 NM_000059.3(BRCA2): c.3010delA (p.Ser1004Valfs) deletion Pathogenic rs730881604 GRCh38 Chromosome 13, 32337365: 32337365
38 BRCA2 NM_000059.3(BRCA2): c.3010delA (p.Ser1004Valfs) deletion Pathogenic rs730881604 GRCh37 Chromosome 13, 32911502: 32911502
39 BRCA2 NM_000059.3(BRCA2): c.3172A> T (p.Lys1058Ter) single nucleotide variant Pathogenic rs730881521 GRCh38 Chromosome 13, 32337527: 32337527
40 BRCA2 NM_000059.3(BRCA2): c.3172A> T (p.Lys1058Ter) single nucleotide variant Pathogenic rs730881521 GRCh37 Chromosome 13, 32911664: 32911664
41 BRCA2 NM_000059.3(BRCA2): c.3758C> T (p.Ala1253Val) single nucleotide variant Uncertain significance rs730881527 GRCh38 Chromosome 13, 32338113: 32338113
42 BRCA2 NM_000059.3(BRCA2): c.3758C> T (p.Ala1253Val) single nucleotide variant Uncertain significance rs730881527 GRCh37 Chromosome 13, 32912250: 32912250
43 BRCA2 NM_000059.3(BRCA2): c.3820_3823delAAGA (p.Lys1274Terfs) deletion Pathogenic rs730881620 GRCh38 Chromosome 13, 32338175: 32338178
44 BRCA2 NM_000059.3(BRCA2): c.3820_3823delAAGA (p.Lys1274Terfs) deletion Pathogenic rs730881620 GRCh37 Chromosome 13, 32912312: 32912315
45 BRCA2 NM_000059.3(BRCA2): c.4112dupA (p.Phe1372Valfs) duplication Pathogenic rs730881606 GRCh38 Chromosome 13, 32338467: 32338467
46 BRCA2 NM_000059.3(BRCA2): c.4112dupA (p.Phe1372Valfs) duplication Pathogenic rs730881606 GRCh37 Chromosome 13, 32912604: 32912604
47 BRCA2 NM_000059.3(BRCA2): c.4168_4169delTT (p.Leu1390Glyfs) deletion Pathogenic rs80359433 GRCh38 Chromosome 13, 32338523: 32338524
48 BRCA2 NM_000059.3(BRCA2): c.4168_4169delTT (p.Leu1390Glyfs) deletion Pathogenic rs80359433 GRCh37 Chromosome 13, 32912660: 32912661
49 BRCA2 NM_000059.3(BRCA2): c.4277delC (p.Thr1426Asnfs) deletion Pathogenic rs730881608 GRCh38 Chromosome 13, 32338632: 32338632
50 BRCA2 NM_000059.3(BRCA2): c.4277delC (p.Thr1426Asnfs) deletion Pathogenic rs730881608 GRCh37 Chromosome 13, 32912769: 32912769

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

GO Terms for Breast-Ovarian Cancer, Familial 2

Sources for Breast-Ovarian Cancer, Familial 2

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