DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs80359705 ×

Source: ALL

Results per page

Gene

Disease

Variant

Source

Association Type

Semantic type

Protein Class

Disease Class

Type

Original DB

Consequence

DSI _v

DPI _v

pLI

EI _vda

EL _gda

Score _vda

PMID

PMID Year

AF_EXOME

Num. PMIDs

Num. SNPs_gda

AF_GENOME

Variant

Gene

Risk Allele

Score _vda

Association Type

Original DB

Sentence supporting the association

PMID

PMID Year

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Individualized iterative phenotyping for genome-wide analysis of loss-of-function mutations.

26046366

2015

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Diagnostic Screening Workflow for Mutations in the BRCA1 and BRCA2 Genes.

25685387

2015

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

25682074

2015

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes.

25085752

2014

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Familial breast cancer genetic testing in the West of Ireland.

23884708

2014

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Exome sequencing identifies rare deleterious mutations in DNA repair genes FANCC and BLM as potential breast cancer susceptibility alleles.

23028338

2012

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Prostate cancer in BRCA2 germline mutation carriers is associated with poorer prognosis.

20736950

2010

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Two percent of men with early-onset prostate cancer harbor germline mutations in the BRCA2 gene.

12474142

2003

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Sensitivity of BRCA1/2 mutation testing in 466 breast/ovarian cancer families.

12960223

2003

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Contribution of BRCA1 and BRCA2 mutations to breast and ovarian cancer in Pakistan.

12181777

2002

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

Evidence of a founder BRCA1 mutation in Scotland.

10682686

2000

dbSNP:

rs80359705

BRCA2

0.700

CausalMutation

CLINVAR

The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds.

8589730

1996