|
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 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
|
27272900 |
2016 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
|
27272900 |
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 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional Assessment of Genetic Variants with Outcomes Adapted to Clinical Decision-Making.
|
27272900 |
2016 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
HBOC multi-gene panel testing: comparison of two sequencing centers.
|
26022348 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
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 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 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
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 |
CausalMutation
|
CLINVAR |
A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS).
|
21990134 |
2012 |
|
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 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
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 |
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 |
CausalMutation
|
CLINVAR |
Toward classification of BRCA1 missense variants using a biophysical approach.
|
20378548 |
2010 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
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 |
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 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.
|
18824701 |
2008 |
|
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 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.
|
18824701 |
2008 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinically applicable models to characterize BRCA1 and BRCA2 variants of uncertain significance.
|
18824701 |
2008 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A systematic genetic assessment of 1,433 sequence variants of unknown clinical significance in the BRCA1 and BRCA2 breast cancer-predisposition genes.
|
17924331 |
2007 |