|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Suggestion of BRCA1 c.5339T>C (p.L1780P) variant confer from 'unknown significance' to 'Likely pathogenic' based on clinical evidence in Korea.
|
28364669 |
2017 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
|
26780556 |
2016 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
|
26780556 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
|
27272900 |
2016 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Germline missense pathogenic variants in the BRCA1 BRCT domain, p.Gly1706Glu and p.Ala1708Glu, increase cellular sensitivity to PARP inhibitor olaparib by a dominant negative effect.
|
27742776 |
2016 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of BRCA1 and BRCA2 germline mutations in patients with triple-negative breast cancer.
|
25682074 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
DNA repair capacity is impaired in healthy BRCA1 heterozygous mutation carriers.
|
26071757 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Germline and somatic mutations in homologous recombination genes predict platinum response and survival in ovarian, fallopian tube, and peritoneal carcinomas.
|
24240112 |
2014 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
|
21990134 |
2012 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
|
21990134 |
2012 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
|
21990134 |
2012 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A computational method to classify variants of uncertain significance using functional assay data with application to BRCA1.
|
21447777 |
2011 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
|
21473589 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
|
20516115 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Non-founder BRCA1 mutations in Russian breast cancer patients.
|
20727672 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Non-founder BRCA1 mutations in Russian breast cancer patients.
|
20727672 |
2010 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Founder BRCA1/2 mutations in the Europe: implications for hereditary breast-ovarian cancer prevention and control.
|
23199084 |
2010 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Non-founder BRCA1 mutations in Russian breast cancer patients.
|
20727672 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Comprehensive analysis of missense variations in the BRCT domain of BRCA1 by structural and functional assays.
|
20516115 |
2010 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Nbs1 flexibly tethers Ctp1 and Mre11-Rad50 to coordinate DNA double-strand break processing and repair.
|
19804755 |
2009 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Pathogenicity of the BRCA1 missense variant M1775K is determined by the disruption of the BRCT phosphopeptide-binding pocket: a multi-modal approach.
|
18285836 |
2008 |