DisGeNET - a database of gene-disease associations

BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1, C2676676

Variant: rs80357970 ×

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:

rs80357970

BRCA1

0.700

CausalMutation

CLINVAR

Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status.

24504028

2014

dbSNP:

rs80357970

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1, TP53, and CHEK2 germline mutations in uterine serous carcinoma.

22811390

2013

dbSNP:

rs80357970

BRCA1

0.700

CausalMutation

CLINVAR

Validation of three BRCA1/2 mutation-carrier probability models Myriad, BRCAPRO and BOADICEA in a population-based series of 183 German families.

22160602

2012

dbSNP:

rs80357970

BRCA1

0.700

CausalMutation

CLINVAR

Germline BRCA1 mutations increase prostate cancer risk.

22516946

2012

dbSNP:

rs80357970

BRCA1

0.700

CausalMutation

CLINVAR

Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.

23199084

2010

dbSNP:

rs80357970

BRCA1

0.700

CausalMutation

CLINVAR

Moderate frequency of BRCA1 and BRCA2 germ-line mutations in Scandinavian familial breast cancer.

9150154

1997

dbSNP:

rs80357970

BRCA1

0.700

CausalMutation

CLINVAR

Detection of BRCA1 mutations by the protein truncation test.

8595428

1995