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 57 29 6
Breast-Ovarian Cancer, Familial, 2 57 75 13
Brovca2 57 75
Breast-Ovarian Cancer, Familial, Susceptibility to, 2 57
Ovarian Cancer Familial 2 75
Breast Cancer Familial 2 75

Characteristics:

OMIM:

57
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:

32
breast-ovarian cancer, familial 2:
Inheritance autosomal dominant inheritance multifactorial inheritance


Classifications:



External Ids:

OMIM 57 612555
SNOMED-CT via HPO 69 263681008 254838004 123843001

Summaries for Breast-Ovarian Cancer, Familial 2

UniProtKB/Swiss-Prot : 75 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

Symptoms via clinical synopsis from OMIM:

57
Neoplasia:
breast cancer
ovarian cancer


Clinical features from OMIM:

612555

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

32
# Description HPO Frequency HPO Source Accession
1 breast carcinoma 32 HP:0003002
2 ovarian neoplasm 32 HP:0100615

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 29 BRCA2

Anatomical Context for Breast-Ovarian Cancer, Familial 2

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

41
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 11937)
# Gene Variation Type Significance SNP ID Assembly Location
1 BRCA2 NM_000059.3(BRCA2): c.7004_7007+2delTTCGGT deletion Pathogenic rs397507890 GRCh37 Chromosome 13, 32921030: 32921035
2 BRCA2 NM_000059.3(BRCA2): c.7004_7007+2delTTCGGT deletion Pathogenic rs397507890 GRCh38 Chromosome 13, 32346893: 32346898
3 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh37 Chromosome 13, 32914767: 32914768
4 BRCA2 NM_000059.3(BRCA2): c.6275_6276delTT (p.Leu2092Profs) deletion Pathogenic rs11571658 GRCh38 Chromosome 13, 32340630: 32340631
5 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh37 Chromosome 13, 32915083: 32915084
6 BRCA2 NM_000059.3(BRCA2): c.6591_6592delTG (p.Glu2198Asnfs) deletion Pathogenic rs80359605 GRCh38 Chromosome 13, 32340946: 32340947
7 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh37 Chromosome 13, 32914214: 32914215
8 BRCA2 NM_000059.3(BRCA2): c.5722_5723delCT (p.Leu1908Argfs) deletion Pathogenic rs80359530 GRCh38 Chromosome 13, 32340077: 32340078
9 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh37 Chromosome 13, 32911300: 32911303
10 BRCA2 NM_000059.3(BRCA2): c.2808_2811del (p.Ala938Profs) deletion Pathogenic rs80359351 GRCh38 Chromosome 13, 32337163: 32337166
11 BRCA2 NM_000059.3(BRCA2): c.3904_3906delACT (p.Thr1302del) deletion Conflicting interpretations of pathogenicity rs80359414 GRCh37 Chromosome 13, 32912396: 32912398
12 BRCA2 NM_000059.3(BRCA2): c.3904_3906delACT (p.Thr1302del) deletion Conflicting interpretations of pathogenicity rs80359414 GRCh38 Chromosome 13, 32338259: 32338261
13 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh37 Chromosome 13, 32914438: 32914438
14 BRCA2 NM_000059.3(BRCA2): c.5946delT (p.Ser1982Argfs) deletion Pathogenic rs80359550 GRCh38 Chromosome 13, 32340301: 32340301
15 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh37 Chromosome 13, 32905145: 32905149
16 BRCA2 NM_000059.3(BRCA2): c.771_775delTCAAA (p.Asn257Lysfs) deletion Pathogenic rs80359671 GRCh38 Chromosome 13, 32331008: 32331012
17 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh37 Chromosome 13, 32945142: 32945143
18 BRCA2 NM_000059.3(BRCA2): c.8537_8538delAG (p.Glu2846Glyfs) deletion Pathogenic rs80359714 GRCh38 Chromosome 13, 32371005: 32371006
19 BRCA2 NM_000059.3(BRCA2): c.1114A> C (p.Asn372His) single nucleotide variant Benign rs144848 GRCh37 Chromosome 13, 32906729: 32906729
20 BRCA2 NM_000059.3(BRCA2): c.1114A> C (p.Asn372His) single nucleotide variant Benign rs144848 GRCh38 Chromosome 13, 32332592: 32332592
21 BRCA2 NM_000059.3(BRCA2): c.8165C> G (p.Thr2722Arg) single nucleotide variant Pathogenic rs80359062 GRCh37 Chromosome 13, 32937504: 32937504
22 BRCA2 NM_000059.3(BRCA2): c.8165C> G (p.Thr2722Arg) single nucleotide variant Pathogenic rs80359062 GRCh38 Chromosome 13, 32363367: 32363367
23 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh37 Chromosome 13, 32903606: 32903607
24 BRCA2 NM_000059.3(BRCA2): c.658_659delGT (p.Val220Ilefs) deletion Pathogenic rs80359604 GRCh38 Chromosome 13, 32329469: 32329470
25 BRCA2 NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter) single nucleotide variant Pathogenic rs80359070 GRCh37 Chromosome 13, 32937558: 32937558
26 BRCA2 NM_000059.3(BRCA2): c.8219T> A (p.Leu2740Ter) single nucleotide variant Pathogenic rs80359070 GRCh38 Chromosome 13, 32363421: 32363421
27 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh37 Chromosome 13, 32913140: 32913140
28 BRCA2 NM_000059.3(BRCA2): c.4648G> T (p.Glu1550Ter) single nucleotide variant Pathogenic rs80358695 GRCh38 Chromosome 13, 32339003: 32339003
29 BRCA2 NM_000059.3(BRCA2): c.7529T> C (p.Leu2510Pro) single nucleotide variant Likely pathogenic rs80358979 GRCh37 Chromosome 13, 32930658: 32930658
30 BRCA2 NM_000059.3(BRCA2): c.7529T> C (p.Leu2510Pro) single nucleotide variant Likely pathogenic rs80358979 GRCh38 Chromosome 13, 32356521: 32356521
31 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh37 Chromosome 13, 32914137: 32914137
32 BRCA2 NM_000059.3(BRCA2): c.5645C> G (p.Ser1882Ter) single nucleotide variant Pathogenic rs80358785 GRCh38 Chromosome 13, 32340000: 32340000
33 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh37 Chromosome 13, 32954222: 32954222
34 BRCA2 NM_000059.3(BRCA2): c.9196C> T (p.Gln3066Ter) single nucleotide variant Pathogenic rs80359180 GRCh38 Chromosome 13, 32380085: 32380085
35 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh37 Chromosome 13, 32900751: 32900751
36 BRCA2 NM_000059.3(BRCA2): c.631+1G> A single nucleotide variant Pathogenic/Likely pathogenic rs81002897 GRCh38 Chromosome 13, 32326614: 32326614
37 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh37 Chromosome 13, 32900752: 32900752
38 BRCA2 NM_000059.3(BRCA2): c.631+2T> G single nucleotide variant Pathogenic rs81002899 GRCh38 Chromosome 13, 32326615: 32326615
39 BRCA2 NM_000059.3(BRCA2): c.2507C> T (p.Pro836Leu) single nucleotide variant Uncertain significance rs397507288 GRCh38 Chromosome 13, 32336862: 32336862
40 BRCA2 NM_000059.3(BRCA2): c.316+1G> A single nucleotide variant Pathogenic rs397507303 GRCh37 Chromosome 13, 32893463: 32893463
41 BRCA2 NM_000059.3(BRCA2): c.316+1G> C single nucleotide variant Pathogenic rs397507303 GRCh38 Chromosome 13, 32319326: 32319326
42 BRCA2 NM_000059.3(BRCA2): c.3330A> G (p.Glu1110=) single nucleotide variant Likely benign rs369294255 GRCh38 Chromosome 13, 32337685: 32337685
43 BRCA2 NM_000059.3(BRCA2): c.7963C> T (p.Gln2655Ter) single nucleotide variant Pathogenic rs397507395 GRCh38 Chromosome 13, 32362680: 32362680
44 BRCA2 NM_000059.3(BRCA2): c.9673T> C (p.Tyr3225His) single nucleotide variant Uncertain significance rs397507434 GRCh38 Chromosome 13, 32398186: 32398186
45 BRCA2 NM_000059.3(BRCA2): c.-39-20T> C single nucleotide variant Likely benign rs397507260 GRCh37 Chromosome 13, 32890539: 32890539
46 BRCA2 NM_000059.3(BRCA2): c.-39-20T> C single nucleotide variant Likely benign rs397507260 GRCh38 Chromosome 13, 32316402: 32316402
47 BRCA2 NM_000059.3(BRCA2): c.2555A> G (p.Asn852Ser) single nucleotide variant Uncertain significance rs80358519 GRCh37 Chromosome 13, 32911047: 32911047
48 BRCA2 NM_000059.3(BRCA2): c.2555A> G (p.Asn852Ser) single nucleotide variant Uncertain significance rs80358519 GRCh38 Chromosome 13, 32336910: 32336910
49 BRCA2 NM_000059.3(BRCA2): c.-15A> C single nucleotide variant Conflicting interpretations of pathogenicity rs138705202 GRCh37 Chromosome 13, 32890583: 32890583
50 BRCA2 NM_000059.3(BRCA2): c.-15A> C single nucleotide variant Conflicting interpretations of pathogenicity rs138705202 GRCh38 Chromosome 13, 32316446: 32316446

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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7 CNVD
9 Cosmic
10 dbSNP
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17 ExPASy
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62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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