DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs80359460 ×

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:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.

26187060

2016

dbSNP:

rs80359460

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:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

25980754

2015

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

24728189

2014

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer.

24312913

2013

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).

23683081

2013

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 mutations in the ovarian cancer population across race and ethnicity: special reference to Asia.

23364291

2013

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.

21702907

2011

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer.

21324516

2011

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

Age-dependent penetrance of different germline mutations in the BRCA1 gene.

19329713

2009

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

Performance of BRCA1/2 mutation prediction models in Asian Americans.

18779604

2008

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

Founder mutations in BRCA1 and BRCA2 genes.

17591843

2007

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

Hereditary breast and ovarian cancer in Asia: genetic epidemiology of BRCA1 and BRCA2.

12442265

2002

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 mutations among breast cancer patients from the Philippines.

11920621

2002

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

Prevalence and penetrance of germline BRCA1 and BRCA2 mutations in a population series of 649 women with ovarian cancer.

11179017

2001

dbSNP:

rs80359460

BRCA2

0.700

CausalMutation

CLINVAR

Population-based estimate of the average age-specific cumulative risk of breast cancer for a defined set of protein-truncating mutations in BRCA1 and BRCA2. Australian Breast Cancer Family Study.

10498392

1999