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: rs273898674
rs273898674
BRCA1
0.010 GeneticVariation BEFREE Novel BRCA1 deleterious mutation (c.1918C>T) in familial breast and ovarian cancer syndrome who share a common ancestry. 24633894

2014
dbSNP: rs397508917
rs397508917
BRCA1
0.010 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: rs397509039
rs397509039
BRCA1
0.010 GeneticVariation BEFREE This report describes functional analysis of two BRCA1 missense mutations (Asp67Glu and Thr1051Ser) observed in the familial breast/ovarian cancer patients in Thailand. 19865540

2009
dbSNP: rs80357033
rs80357033
BRCA1
0.010 GeneticVariation BEFREE This report describes functional analysis of two BRCA1 missense mutations (Asp67Glu and Thr1051Ser) observed in the familial breast/ovarian cancer patients in Thailand. 19865540

2009
dbSNP: rs886037971
rs886037971
BRCA1
0.010 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: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR The prevalence of BRCA1 and BRCA2 germline mutations in high-risk breast cancer patients of Chinese Han nationality: two recurrent mutations were identified. 17851763

2008
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Mutations in the BRCA1 gene in Japanese breast cancer patients. 8723683

1996
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR A DGGE system for comprehensive mutation screening of BRCA1 and BRCA2: application in a Dutch cancer clinic setting. 16683254

2006
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Diagnostic guidelines for high-resolution melting curve (HRM) analysis: an interlaboratory validation of BRCA1 mutation scanning using the 96-well LightScanner. 19370767

2009
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Frequency of BRCA1 and BRCA2 germline mutations in Japanese breast cancer families. 11149425

2001
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 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: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR A high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer families. 9150151

1997
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy. 22776961

2012
dbSNP: rs80356923
rs80356923
BRCA1
A 0.710 CausalMutation CLINVAR Molecular profiles of BRCA1-mutated and matched sporadic breast tumours: relation with clinico-pathological features. 11506493

2001
dbSNP: rs80356923
rs80356923
BRCA1
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: rs886039981
rs886039981
BRCA1
A 0.710 CausalMutation CLINVAR

dbSNP: rs1057519558
rs1057519558
BRCA1
A 0.700 GeneticVariation CLINVAR

dbSNP: rs1060502345
rs1060502345
BRCA1
A 0.700 CausalMutation CLINVAR

dbSNP: rs1135401837
rs1135401837
BRCA1
A 0.700 CausalMutation CLINVAR