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