DisGeNET - a database of gene-disease associations

Hereditary Breast and Ovarian Cancer Syndrome, C0677776

Variant: rs587780021 ×

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:

rs587780021

BARD1

0.700

CausalMutation

CLINVAR

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

26010302

2016

dbSNP:

rs587780021

BARD1

0.700

CausalMutation

CLINVAR

Hereditary ovarian cancer: not only BRCA 1 and 2 genes.

26075229

2015

dbSNP:

rs587780021

BARD1

0.700

CausalMutation

CLINVAR

Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland.

25330149

2015

dbSNP:

rs587780021

BARD1

0.700

CausalMutation

CLINVAR

Germline Mutations in the BRIP1, BARD1, PALB2, and NBN Genes in Women With Ovarian Cancer.

26315354

2015

dbSNP:

rs587780021

BARD1

0.700

CausalMutation

CLINVAR

Analysis of large mutations in BARD1 in patients with breast and/or ovarian cancer: the Polish population as an example.

25994375

2015

dbSNP:

rs587780021

BARD1

0.700

CausalMutation

CLINVAR

Identification of a Variety of Mutations in Cancer Predisposition Genes in Patients With Suspected Lynch Syndrome.

25980754

2015

dbSNP:

rs587780021

BARD1

0.700

CausalMutation

CLINVAR

Cancer predisposing BARD1 mutations in breast-ovarian cancer families.

21344236

2012