rs80357086
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
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
rs80357086
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
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
rs80357086
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
T
0.710
CausalMutation
CLINVAR
BRCA1 and BRCA2 mutations in Japanese patients with ovarian, fallopian tube, and primary peritoneal cancer.
26439132
2016
rs80357086
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
T
0.710
CausalMutation
CLINVAR
Comprehensive spectrum of BRCA1 and BRCA2 deleterious mutations in breast cancer in Asian countries.
26187060
2016
rs80357064
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
C
0.710
CausalMutation
CLINVAR
Patterns and functional implications of rare germline variants across 12 cancer types.
26689913
2015
rs80357064
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
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
rs80357064
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
C
0.710
CausalMutation
CLINVAR
Deleterious BRCA1/2 mutations in an urban population of Black women.
26250392
2015
rs80357086
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
T
0.710
CausalMutation
CLINVAR
Detection of BRCA1 and BRCA2 germline mutations in Japanese population using next-generation sequencing.
25802882
2015
rs80357086
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
T
0.710
CausalMutation
CLINVAR
Prevalence and differentiation of hereditary breast and ovarian cancers in Japan.
24249303
2015
rs80356923
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
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
rs80356923
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
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
rs80357064
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
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
rs80357064
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
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
rs80357064
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
C
0.710
CausalMutation
CLINVAR
Characterization of an Italian founder mutation in the RING-finger domain of BRCA1.
24516540
2014
rs80357086
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
T
0.710
CausalMutation
CLINVAR
Hereditary breast and ovarian cancer: assessment of point mutations and copy number variations in Brazilian patients.
24884479
2014
rs80357382
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
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
rs886039981
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
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
rs80357064
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
C
0.710
CausalMutation
CLINVAR
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
23867111
2013
rs80357064
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
C
0.710
CausalMutation
CLINVAR
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.
23161852
2013
rs80357382
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
C
0.710
CausalMutation
CLINVAR
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.
23161852
2013
rs80357382
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
C
0.710
CausalMutation
CLINVAR
Mutational analysis of BRCA1 and BRCA2 in hereditary breast and ovarian cancer families from Asturias (Northern Spain).
23683081
2013
rs80356923
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
A
0.710
CausalMutation
CLINVAR
Germline BRCA1 and BRCA2 mutations in ovarian cancer: utility of a histology-based referral strategy.
22776961
2012
rs80357064
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
C
0.710
CausalMutation
CLINVAR
High prevalence of BRCA1 and BRCA2 mutations in unselected Nigerian breast cancer patients.
22034289
2012
rs80357064
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
C
0.710
CausalMutation
CLINVAR
Mechanisms of BRCA1 tumor suppression.
22843421
2012
rs80357382
×
Entrez Id:
672
Gene Symbol:
BRCA1
BRCA1
Hereditary Breast and Ovarian Cancer Syndrome
C
0.710
CausalMutation
CLINVAR
Functional differences among BRCA1 missense mutations in the control of centrosome duplication.
21725363
2012