Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Recurrent mutations of BRCA1, BRCA2 and PALB2 in the population of breast and ovarian cancer patients in Southern Poland. 26843898

2016
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Mutational analysis of BRCA1/2 in a group of 134 consecutive ovarian cancer patients. Novel and recurrent BRCA1/2 alterations detected by next generation sequencing. 25366421

2015
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR High prevalence of BRCA1 founder mutations in Greek breast/ovarian families. 24010542

2014
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Comprehensive BRCA1 and BRCA2 mutational profile in Lithuania. 25066507

2014
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence. 23479189

2013
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Common low-penetrance risk variants associated with breast cancer in Polish women. 24171766

2013
dbSNP: rs80357609
rs80357609
BRCA1
G 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: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR BRCA1 regulates follistatin function in ovarian cancer and human ovarian surface epithelial cells. 22685544

2012
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Double heterozygosity for mutations in BRCA1 and BRCA2 in German breast cancer patients: implications on test strategies and clinical management. 22535016

2012
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Prevalence of the most frequent BRCA1 mutations in Polish population. 21503673

2011
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes. 21702907

2011
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Non-founder BRCA1 mutations in Russian breast cancer patients. 20727672

2010
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Spectrum and characterisation of BRCA1 and BRCA2 deleterious mutations in high-risk Czech patients with breast and/or ovarian cancer. 18489799

2008
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR [Prevalence of widespread BRCA1 gene mutations in patients with familial breast cancer from St. Petersburg]. 15865297

2005
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations. 16267036

2005
dbSNP: rs80357609
rs80357609
BRCA1
G 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: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutation status and cancer family history of Danish women affected with multifocal or bilateral breast cancer at a young age. 11389159

2001
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Founder mutations in the BRCA1 gene in Polish families with breast-ovarian cancer. 10788334

2000
dbSNP: rs80357609
rs80357609
BRCA1
G 0.700 CausalMutation CLINVAR Mutation analysis of the BRCA1 gene in ovarian cancers. 7606717

1995