DisGeNET - a database of gene-disease associations

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 2, C2675520

Variant: rs80359351 ×

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:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.

23929434

2013

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

Description and analysis of genetic variants in French hereditary breast and ovarian cancer families recorded in the UMD-BRCA1/BRCA2 databases.

22144684

2012

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

Mutations in 12 genes for inherited ovarian, fallopian tube, and peritoneal carcinoma identified by massively parallel sequencing.

22006311

2011

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

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

21324516

2011

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

BRCA2 is a moderate penetrance gene contributing to young-onset prostate cancer: implications for genetic testing in prostate cancer patients.

21952622

2011

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

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

20736950

2010

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic.

15024741

2004

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

Analysis of BRCA1 and BRCA2 genes in Spanish breast/ovarian cancer patients: a high proportion of mutations unique to Spain and evidence of founder effects.

12955716

2003

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

De novo recurrent germline mutation of the BRCA2 gene in a patient with early onset breast cancer.

11158174

2001

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

Haplotype and phenotype analysis of nine recurrent BRCA2 mutations in 111 families: results of an international study.

9585613

1998

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

Mutations of the BRCA2 gene in ovarian carcinomas.

8665505

1996

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

Identification of the breast cancer susceptibility gene BRCA2.

8524414

1996