Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357086
rs80357086
0.710 GeneticVariation BEFREE By using trial registration data from the Japanese hereditary breast and ovarian cancer syndrome (HBOC) consortium, we aimed to explore the clinicopathological characteristics of breast cancer patients with the Japanese founder mutation <i>BRCA1</i> L63X. 31143373

2019

dbSNP: rs80357086
rs80357086
T 0.710 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: rs80357086
rs80357086
T 0.710 CausalMutation CLINVAR BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer. 26439132

2016

dbSNP: rs80357086
rs80357086
T 0.710 CausalMutation CLINVAR Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. 26187060

2016

dbSNP: rs80357064
rs80357064
C 0.710 CausalMutation CLINVAR Patterns and functional implications of rare germline variants across 12 cancer types. 26689913

2015

dbSNP: rs80357064
rs80357064
C 0.710 CausalMutation CLINVAR Frequency of mutations in individuals with breast cancer referred for BRCA1 and BRCA2 testing using next-generation sequencing with a 25-gene panel. 25186627

2015

dbSNP: rs80357064
rs80357064
C 0.710 CausalMutation CLINVAR Deleterious BRCA1/2 mutations in an urban population of Black women. 26250392

2015

dbSNP: rs80357086
rs80357086
T 0.710 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. 25802882

2015

dbSNP: rs80357086
rs80357086
T 0.710 CausalMutation CLINVAR Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. 24249303

2015

dbSNP: rs80356923
rs80356923
0.710 GeneticVariation BEFREE Here, we report the first case of serous tubal intraepithelial carcinoma identified through a risk-reducing salpingo-oophorectomy in a Japanese woman with hereditary breast and ovarian cancer syndrome and who had a deleterious germline mutation of E1214X in BRCA1, but not a BRCA2 mutation. 24719479

2014

dbSNP: rs80356923
rs80356923
A 0.710 CausalMutation CLINVAR Here, we report the first case of serous tubal intraepithelial carcinoma identified through a risk-reducing salpingo-oophorectomy in a Japanese woman with hereditary breast and ovarian cancer syndrome and who had a deleterious germline mutation of E1214X in BRCA1, but not a BRCA2 mutation. 24719479

2014

dbSNP: rs80357064
rs80357064
0.710 GeneticVariation BEFREE Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy). 24516540

2014

dbSNP: rs80357064
rs80357064
0.710 GeneticVariation BEFREE Here, we report the characterization of the BRCA1 c.190T>C (p.Cys64Arg) mutation, mapped to the RING-finger domain coding region, that we detected in 43 hereditary breast/ovarian cancer (HBOC) families, for the large part originating from the province of Bergamo (Northern Italy). 24516540

2014

dbSNP: rs80357064
rs80357064
C 0.710 CausalMutation CLINVAR Characterization of an Italian founder mutation in the RING-finger domain of BRCA1. 24516540

2014

dbSNP: rs80357086
rs80357086
T 0.710 CausalMutation CLINVAR Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. 24884479

2014

dbSNP: rs80357382
rs80357382
C 0.710 CausalMutation CLINVAR This population is highly admixed with a different spectrum of genetic susceptibility, with the Galician founder mutation BRCA1 p.R71G accounting for 50% of all identified mutations in high-risk HBOC patients. 27081505

2014

dbSNP: rs886039981
rs886039981
0.710 GeneticVariation BEFREE Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry. 24633894

2014

dbSNP: rs80357064
rs80357064
C 0.710 CausalMutation CLINVAR A high-throughput functional complementation assay for classification of BRCA1 missense variants. 23867111

2013

dbSNP: rs80357064
rs80357064
C 0.710 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013

dbSNP: rs80357382
rs80357382
C 0.710 CausalMutation CLINVAR Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing. 23161852

2013

dbSNP: rs80357382
rs80357382
C 0.710 CausalMutation CLINVAR Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain). 23683081

2013

dbSNP: rs80356923
rs80356923
A 0.710 CausalMutation CLINVAR Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy. 22776961

2012

dbSNP: rs80357064
rs80357064
C 0.710 CausalMutation CLINVAR High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients. 22034289

2012

dbSNP: rs80357064
rs80357064
C 0.710 CausalMutation CLINVAR Mechanisms of BRCA1 tumor suppression. 22843421

2012

dbSNP: rs80357382
rs80357382
C 0.710 CausalMutation CLINVAR Functional differences among BRCA1 missense mutations in the control of centrosome duplication. 21725363

2012