DisGeNET - a database of gene-disease associations

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 3, C3150659

Variant: rs267606998 ×

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:

rs267606998

RAD51C

0.800

GeneticVariation

UNIPROT

Breast cancer-associated missense mutants of the PALB2 WD40 domain, which directly binds RAD51C, RAD51 and BRCA2, disrupt DNA repair.

24141787

2014

dbSNP:

rs267606998

RAD51C

0.800

GeneticVariation

UNIPROT

Analysis of RAD51C germline mutations in high-risk breast and ovarian cancer families and ovarian cancer patients.

21990120

2012

dbSNP:

rs267606998

RAD51C

0.800

GeneticVariation

UNIPROT

Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.

20400964

2010

dbSNP:

rs267606998

RAD51C

0.800

SusceptibilityMutation

CLINVAR