DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs397507422 ×

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:

rs397507422

BRCA2

0.700

CausalMutation

CLINVAR

Population and breast cancer patients' analysis reveals the diversity of genomic variation of the BRCA genes in the Mexican population.

30630528

2019

dbSNP:

rs397507422

BRCA2

0.700

CausalMutation

CLINVAR

Multi-gene panel testing for hereditary cancer predisposition in unsolved high-risk breast and ovarian cancer patients.

28281021

2017

dbSNP:

rs397507422

BRCA2

0.700

CausalMutation

CLINVAR

Significant clinical impact of recurrent BRCA1 and BRCA2 mutations in Mexico.

25236687

2015