DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

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

BRCA1 and BRCA2 mutations in males with familial breast and ovarian cancer syndrome. Results of a Spanish multicenter study.

26026974

2015

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

Incidence of BRCA1 and BRCA2 non-founder mutations in patients of Ashkenazi Jewish ancestry.

25476495

2015

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

24504028

2014

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

Identification of BRCA1/2 founder mutations in Southern Chinese breast cancer patients using gene sequencing and high resolution DNA melting analysis.

22970155

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

EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.

21120943

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

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

21324516

2011

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

23199084

2010

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 of different ethnicities undergoing testing for hereditary breast-ovarian cancer.

19241424

2009

dbSNP:

rs80359351

BRCA2

0.700

CausalMutation

CLINVAR

A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting.

16683254

2006

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

Protein truncating BRCA1 and BRCA2 mutations in African women with pre-menopausal breast cancer.

11030418

2000

dbSNP: