Gene: BRCA1 ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356923
rs80356923
BRCA1
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: rs80357064
rs80357064
BRCA1
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
BRCA1
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: 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: rs80357382
rs80357382
BRCA1
0.710 GeneticVariation BEFREE We demonstrate that disruption of alternative transcript ratios is the mechanism causing hereditary breast/ovarian cancer associated with the BRCA1 R71G mutation. 19123044

2009
dbSNP: rs886039981
rs886039981
BRCA1
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: rs1057518639
rs1057518639
BRCA1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1057519558
rs1057519558
BRCA1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502356
rs1060502356
BRCA1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1135401839
rs1135401839
BRCA1
C 0.700 GeneticVariation CLINVAR BRCA1/BRCA2 gene mutations/SNPs and BRCA1 haplotypes in early-onset breast cancer patients of Indian ethnicity. 22752604

2012
dbSNP: rs1351019392
rs1351019392
BRCA1
A 0.700 GeneticVariation CLINVAR Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study. 20104584

2010
dbSNP: rs138608489
rs138608489
BRCA1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1555574739
rs1555574739
BRCA1
CA 0.700 GeneticVariation CLINVAR

dbSNP: rs1555580840
rs1555580840
BRCA1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555584251
rs1555584251
BRCA1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555587638
rs1555587638
BRCA1
AT 0.700 GeneticVariation CLINVAR

dbSNP: rs1555587944
rs1555587944
BRCA1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555590714
rs1555590714
BRCA1
G 0.700 GeneticVariation CLINVAR

dbSNP: rs1555591170
rs1555591170
BRCA1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555592526
rs1555592526
BRCA1
T 0.700 GeneticVariation CLINVAR

dbSNP: rs1555592766
rs1555592766
BRCA1
GAAGTAAG 0.700 GeneticVariation CLINVAR

dbSNP: rs1555593598
rs1555593598
BRCA1
C 0.700 GeneticVariation CLINVAR

dbSNP: rs1555596373
rs1555596373
BRCA1
C 0.700 GeneticVariation CLINVAR LRP1B deletion in high-grade serous ovarian cancers is associated with acquired chemotherapy resistance to liposomal doxorubicin. 22896685

2012
dbSNP: rs1555599205
rs1555599205
BRCA1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1567777811
rs1567777811
BRCA1
G 0.700 GeneticVariation CLINVAR