Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80357086
rs80357086
BRCA1
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
BRCA1
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
BRCA1
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
BRCA1
T 0.710 CausalMutation CLINVAR Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries. 26187060

2016
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing. 25802882

2015
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Prevalence and differentiation of hereditary breast and ovarian cancers in Japan. 24249303

2015
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients. 24884479

2014
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Cross-sectional analysis of germline BRCA1 and BRCA2 mutations in Japanese patients suspected to have hereditary breast/ovarian cancer. 19016756

2008
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families. 15168169

2004
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Reduction of BRCA1 protein expression in Japanese sporadic breast carcinomas and its frequent loss in BRCA1-associated cases. 10389907

1999
dbSNP: rs80357086
rs80357086
BRCA1
T 0.710 CausalMutation CLINVAR Germline mutation of BRCA1 in Japanese breast cancer families. 7627958

1995