Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357123
rs80357123
BRCA1
A 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: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Inherited DNA-Repair Gene Mutations in Men with Metastatic Prostate Cancer. 27433846

2016
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Inherited predisposition to breast cancer among African American women. 25428789

2015
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR High prevalence of BRCA1 founder mutations in Greek breast/ovarian families. 24010542

2014
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence of BRCA1 mutations in familial and sporadic greek ovarian cancer cases. 23536787

2013
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Germline mutations in the DNA damage response genes BRCA1, BRCA2, BARD1 and TP53 in patients with therapy related myeloid neoplasms. 22652532

2012
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence of BRCA1 mutations among 403 women with triple-negative breast cancer: implications for genetic screening selection criteria: a Hellenic Cooperative Oncology Group Study. 22434525

2012
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR The occurrence of germline BRCA1 and BRCA2 sequence alterations in Slovenian population. 21232165

2011
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Frequencies of BRCA1 and BRCA2 mutations among 1,342 unselected patients with invasive ovarian cancer. 21324516

2011
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Founder mutations account for the majority of BRCA1-attributable hereditary breast/ovarian cancer cases in a population from Tuscany, Central Italy. 18821011

2009
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Greek BRCA1 and BRCA2 mutation spectrum: two BRCA1 mutations account for half the carriers found among high-risk breast/ovarian cancer patients. 17453335

2008
dbSNP: rs80357123
rs80357123
BRCA1
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: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Prevalence of pathogenic BRCA1 mutation carriers in 5 US racial/ethnic groups. 18159056

2007
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Population BRCA1 and BRCA2 mutation frequencies and cancer penetrances: a kin-cohort study in Ontario, Canada. 17148771

2006
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Germ line BRCA1 & BRCA2 mutations in Greek breast/ovarian cancer families: 5382insC is the most frequent mutation observed. 12142080

2002
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR BRCA1 and BRCA2 mutations among 233 unselected Finnish ovarian carcinoma patients. 11436123

2001
dbSNP: rs80357123
rs80357123
BRCA1
A 0.700 CausalMutation CLINVAR Low proportion of BRCA1 and BRCA2 mutations in Finnish breast cancer families: evidence for additional susceptibility genes. 9361038

1997