DisGeNET - a database of gene-disease associations

Neoplastic Syndromes, Hereditary, C0027672

Variant: rs80356898 ×

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:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1 and BRCA2 germline variants in breast cancer patients from the Republic of Macedonia.

29335924

2018

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.

28324225

2017

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

Genetic testing for BRCA1 and BRCA2 in the Province of Ontario.

26219728

2016

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of BRCA1/BRCA2 mutations in a Brazilian population sample at-risk for hereditary breast cancer and characterization of its genetic ancestry.

27741520

2016

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study.

26350514

2016

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of Hispanic BRCA1 and BRCA2 mutations among hereditary breast and ovarian cancer patients from Brazil reveals differences among Latin American populations.

27425403

2016

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

Germline mutations in BRCA1 and BRCA2 in epithelial ovarian cancer patients in Brazil.

27914478

2016

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

BRCA somatic and germline mutation detection in paraffin embedded ovarian cancers by next-generation sequencing.

26745875

2016

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of Germline Mutations in Genes Engaged in DNA Damage Repair by Homologous Recombination in Patients with Triple-Negative and Hereditary Non-Triple-Negative Breast Cancers.

26083025

2015

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

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

25330149

2015

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

New recurrent BRCA1/2 mutations in Polish patients with familial breast/ovarian cancer detected by next generation sequencing.

25948282

2015

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.

25682074

2015

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

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

24504028

2014

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy.

21989927

2012

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy.

22776961

2012

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

Four new cases of double heterozygosity for BRCA1 and BRCA2 gene mutations: clinical, pathological, and family characteristics.

20373018

2010

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

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

23199084

2010

dbSNP:

rs80356898

BRCA1

0.700

CausalMutation

CLINVAR

A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene. Implications for presymptomatic testing and screening.

7837387

1995