DisGeNET - a database of gene-disease associations

Malignant neoplasm of breast, C0006142

Variant: rs587780833 ×

Source: CURATED ×

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:

rs587780833

BRIP1

0.700

GeneticVariation

CLINVAR

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

26681312

2016

dbSNP:

rs587780833

BRIP1

0.700

GeneticVariation

CLINVAR

Clinical Actionability of Multigene Panel Testing for Hereditary Breast and Ovarian Cancer Risk Assessment.

26270727

2015

dbSNP:

rs587780833

BRIP1

0.700

GeneticVariation

CLINVAR

Mutations in BRIP1 confer high risk of ovarian cancer.

21964575

2011

dbSNP:

rs587780833

BRIP1

0.700

GeneticVariation

CLINVAR

Truncating mutations in the Fanconi anemia J gene BRIP1 are low-penetrance breast cancer susceptibility alleles.

17033622

2006

dbSNP:

rs587780833

BRIP1

0.700

GeneticVariation

CLINVAR

The DNA helicase BRIP1 is defective in Fanconi anemia complementation group J.

16116423

2005