BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
|
31131967 |
2019 |
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Dealing With BRCA1/2 Unclassified Variants in a Cancer Genetics Clinic: Does Cosegregation Analysis Help?
|
30254663 |
2018 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
|
28324225 |
2017 |
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum of genetic variants of BRCA1 and BRCA2 in a German single center study.
|
28324225 |
2017 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.
|
28111427 |
2017 |
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of a Novel BRCA1 Pathogenic Mutation in Korean Patients Following Reclassification of BRCA1 and BRCA2 Variants According to the ACMG Standards and Guidelines Using Relevant Ethnic Controls.
|
28111427 |
2017 |
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of the Ion Torrent PGM sequencing workflow for the routine rapid detection of BRCA1 and BRCA2 germline mutations.
|
28263838 |
2017 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Beyond DNA: An Integrated and Functional Approach for Classifying Germline Variants in Breast Cancer Genes.
|
27822389 |
2016 |
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
|
28781887 |
2016 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
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 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
|
28781887 |
2016 |
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Two Missense Mutations in the Primary Autosomal Recessive Microcephaly Gene MCPH1 Disrupt the Function of the Highly Conserved N-Terminal BRCT Domain of Microcephalin.
|
22855649 |
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
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 |
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 |
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 |
GeneticVariation
|
CLINVAR |
Toward classification of BRCA1 missense variants using a biophysical approach.
|
20378548 |
2010 |
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Toward classification of BRCA1 missense variants using a biophysical approach.
|
20378548 |
2010 |
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 |
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Toward classification of BRCA1 missense variants using a biophysical approach.
|
20378548 |
2010 |
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Toward classification of BRCA1 missense variants using a biophysical approach.
|
20378548 |
2010 |