DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs587781948 ×

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:

rs587781948

BARD1

0.700

CausalMutation

CLINVAR

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

28050010

2017

dbSNP:

rs587781948

BARD1

0.700

CausalMutation

CLINVAR

BARD1 nonsense variant c.1921C>T in a patient with recurrent breast cancer.

28174632

2017

dbSNP:

rs587781948

BARD1

0.700

CausalMutation

CLINVAR

Prevalence of Pathogenic Mutations in Cancer Predisposition Genes among Pancreatic Cancer Patients.

26483394

2016

dbSNP:

rs587781948

BARD1

0.700

CausalMutation

CLINVAR

Frequent incidence of BARD1-truncating mutations in germline DNA from triple-negative breast cancer patients.

26010302

2016