BROVCA2
MCID: BRS111
MIFTS: 24

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, Testes, Brain

Publications for Breast-Ovarian Cancer, Familial 2

Articles related to Breast-Ovarian Cancer, Familial 2:

(show all 30)
# Title Authors Year
1
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. ( 27854360 )
2017
2
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing. ( 25356965 )
2015
3
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. ( 25394175 )
2015
4
Functional assays for analysis of variants of uncertain significance in BRCA2. ( 24323938 )
2014
5
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. ( 24366402 )
2014
6
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. ( 24493721 )
2014
7
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. ( 24366376 )
2014
8
ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. ( 23788249 )
2013
9
Tamoxifen and risk of contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. ( 23918944 )
2013
10
NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. ( 23188549 )
2013
11
American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. ( 20065170 )
2010
12
ACOG Practice Bulletin No. 103: Hereditary breast and ovarian cancer syndrome. ( 19305347 )
2009
13
American Cancer Society guidelines for breast screening with MRI as an adjunct to mammography. ( 17392385 )
2007
14
Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. ( 17508274 )
2007
15
Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. ( 15604628 )
2004
16
Heterozygote excess is repeatedly observed in females at the BRCA2 locus N372H. ( 15235023 )
2004
17
Shared genetic susceptibility to breast cancer, brain tumors, and Fanconi anemia. ( 14559878 )
2003
18
BRCA2 T2722R is a deleterious allele that causes exon skipping. ( 12145750 )
2002
19
Mutation analysis of a Mauritian hereditary breast cancer family reveals the BRCA2 6503deITT mutation previously found to recur in different ethnic populations. ( 11359068 )
2001
20
Chromosome 8p alterations in sporadic and BRCA2 999del5 linked breast cancer. ( 10807692 )
2000
21
Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland. ( 11039575 )
2000
22
A common variant in BRCA2 is associated with both breast cancer risk and prenatal viability. ( 11062481 )
2000
23
A breast cancer patient of Scottish descent with germ-line mutations in BRCA1 and BRCA2. ( 9585617 )
1998
24
Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study. ( 9585613 )
1998
25
The 8765delAG mutation in BRCA2 is common among Jews of Yemenite extraction. ( 9634522 )
1998
26
Study of a single BRCA2 mutation with high carrier frequency in a small population. ( 9150155 )
1997
27
The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. ( 8589730 )
1996
28
Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. ( 8673090 )
1996
29
Identification of the breast cancer susceptibility gene BRCA2. ( 8524414 )
1995
30
Familial male breast cancer is not linked to the BRCA1 locus on chromosome 17q. ( 8075631 )
1994

Variations for Breast-Ovarian Cancer, Familial 2

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

6 (show top 50) (show all 11961)
# 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.2618_2619delTA (p.Ile873Asnfs) deletion Pathogenic rs397507290 GRCh37 Chromosome 13, 32911110: 32911111
40 BRCA2 NM_000059.3(BRCA2): c.-15A> C single nucleotide variant Conflicting interpretations of pathogenicity rs138705202 GRCh37 Chromosome 13, 32890583: 32890583
41 BRCA2 NM_000059.3(BRCA2): c.-15A> C single nucleotide variant Conflicting interpretations of pathogenicity rs138705202 GRCh38 Chromosome 13, 32316446: 32316446
42 BRCA2 NM_000059.3(BRCA2): c.-39-12_-39-10delTCT deletion Conflicting interpretations of pathogenicity rs276174798 GRCh37 Chromosome 13, 32890547: 32890549
43 BRCA2 NM_000059.3(BRCA2): c.-39-12_-39-10delTCT deletion Conflicting interpretations of pathogenicity rs276174798 GRCh38 Chromosome 13, 32316410: 32316412
44 BRCA2 NM_000059.3(BRCA2): c.-39-20T> C single nucleotide variant Likely benign rs397507260 GRCh37 Chromosome 13, 32890539: 32890539
45 BRCA2 NM_000059.3(BRCA2): c.-39-20T> C single nucleotide variant Likely benign rs397507260 GRCh38 Chromosome 13, 32316402: 32316402
46 BRCA2 NM_000059.3(BRCA2): c.-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs276174802 GRCh37 Chromosome 13, 32890589: 32890589
47 BRCA2 NM_000059.3(BRCA2): c.-9T> C single nucleotide variant Conflicting interpretations of pathogenicity rs276174802 GRCh38 Chromosome 13, 32316452: 32316452
48 BRCA2 NM_000059.3(BRCA2): c.10024G> A (p.Glu3342Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs28897761 GRCh37 Chromosome 13, 32972674: 32972674
49 BRCA2 NM_000059.3(BRCA2): c.10024G> A (p.Glu3342Lys) single nucleotide variant Conflicting interpretations of pathogenicity rs28897761 GRCh38 Chromosome 13, 32398537: 32398537
50 BRCA2 NM_000059.3(BRCA2): c.10045A> G (p.Thr3349Ala) single nucleotide variant Benign rs80358387 GRCh37 Chromosome 13, 32972695: 32972695

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

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
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37 IUPHAR
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39 LifeMap
41 LOVD
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45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
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52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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