DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs80357906 ×

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:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing.

26681312

2016

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer.

27433846

2016

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Genetic characterization of early onset ovarian carcinoma.

26718727

2016

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

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

25980754

2015

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

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

24504028

2014

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Breast and ovarian cancer risk and risk reduction in Jewish BRCA1/2 mutation carriers.

22430266

2012

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Predictive factors for BRCA1/BRCA2 mutations in women with ductal carcinoma in situ.

22009639

2012

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

On the origin and diffusion of BRCA1 c.5266dupC (5382insC) in European populations.

21119707

2011

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of the most frequent BRCA1 mutations in Polish population.

21503673

2011

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

High frequency and allele-specific differences of BRCA1 founder mutations in breast cancer and ovarian cancer patients from Belarus.

20569256

2010

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

Breast and ovarian cancer risks to carriers of the BRCA1 5382insC and 185delAG and BRCA2 6174delT mutations: a combined analysis of 22 population based studies.

15994883

2005

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

The frequency of founder mutations in the BRCA1, BRCA2, and APC genes in Australian Ashkenazi Jews: implications for the generality of U.S. population data.

11466700

2001

dbSNP:

rs80357906

BRCA1

0.700

CausalMutation

CLINVAR

The prevalence of common BRCA1 and BRCA2 mutations among Ashkenazi Jews.

10090881

1999

dbSNP: