DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs80358785 ×

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:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

28324225

2017

dbSNP:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR

Novel and reported pathogenic variants in exon 11 of BRCA2 gene in a cohort of Sri Lankan young breast cancer patients.

28039656

2017

dbSNP:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer.

26439132

2016

dbSNP:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women.

27836010

2016

dbSNP:

rs80358785

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:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR

Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management.

22535016

2012

dbSNP:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR

BRCA2 mutations and triple-negative breast cancer.

22666503

2012

dbSNP:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR

Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

22009639

2012

dbSNP:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR

Characteristics and spectrum of BRCA1 and BRCA2 mutations in 3,922 Korean patients with breast and ovarian cancer.

22798144

2012

dbSNP:

rs80358785

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:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR

Biallelic BRCA2 mutations are associated with multiple malignancies in childhood including familial Wilms tumour.

15689453

2005

dbSNP:

rs80358785

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:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR

Comprehensive analysis of 989 patients with breast or ovarian cancer provides BRCA1 and BRCA2 mutation profiles and frequencies for the German population.

11802209

2002

dbSNP:

rs80358785

BRCA2

0.700

CausalMutation

CLINVAR