Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR Tracking of the origin of recurrent mutations of the BRCA1 and BRCA2 genes in the North-East of Italy and improved mutation analysis strategy. 26852130

2016

dbSNP: rs80356898
rs80356898
A 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
rs80356898
A 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
rs80356898
A 0.700 CausalMutation CLINVAR Mutations predisposing to breast cancer in 12 candidate genes in breast cancer patients from Poland. 25330149

2015

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR Clinical characteristics of ovarian cancer classified by BRCA1, BRCA2, and RAD51C status. 24504028

2014

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR A comprehensive focus on global spectrum of BRCA1 and BRCA2 mutations in breast cancer. 24312913

2013

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081

2013

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR Contribution of germline mutations in the BRCA and PALB2 genes to pancreatic cancer in Italy. 21989927

2012

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. 21232165

2011

dbSNP: rs80356898
rs80356898
A 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
rs80356898
A 0.700 CausalMutation CLINVAR Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control. 23199084

2010

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR Novel and common BRCA1 mutations in familial breast/ovarian cancer patients from Lithuania. 18763032

2009

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR Five recurrent BRCA1/2 mutations are responsible for cancer predisposition in the majority of Slovenian breast cancer families. 18783588

2008

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR BRCA1-2 mutations in breast cancer: identification of nine new variants of BRCA1-2 genes in a population from central Western Spain. 15876480

2006

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in women with familial or early-onset breast/ovarian cancer in the Czech Republic. 15024741

2004

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR Mutations of the BRCA1 gene in hereditary breast and ovarian cancer in the Czech Republic. 12566964

2003

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR The nonsense-mediated mRNA decay pathway triggers degradation of most BRCA1 mRNAs bearing premature termination codons. 12393792

2002

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR BRCA1-related breast cancer in Austrian breast and ovarian cancer families: specific BRCA1 mutations and pathological characteristics. 9663595

1998

dbSNP: rs80356898
rs80356898
A 0.700 CausalMutation CLINVAR Founding BRCA1 mutations in hereditary breast and ovarian cancer in southern Sweden. 8644702

1996

dbSNP: rs80356898
rs80356898
A 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