|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
|
25823446 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Massively Parallel Functional Analysis of BRCA1 RING Domain Variants.
|
25823446 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
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 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
|
24489791 |
2014 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
|
24212087 |
2014 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Multifactorial likelihood assessment of BRCA1 and BRCA2 missense variants confirms that BRCA1:c.122A>G(p.His41Arg) is a pathogenic mutation.
|
24489791 |
2014 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.
|
23161852 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Analysis of BRCA1 variants in double-strand break repair by homologous recombination and single-strand annealing.
|
23161852 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional differences among BRCA1 missense mutations in the control of centrosome duplication.
|
21725363 |
2012 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The BRCA1 ubiquitin ligase and homologous recombination repair.
|
21570976 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
|
20103620 |
2010 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Interlaboratory diagnostic validation of conformation-sensitive capillary electrophoresis for mutation scanning.
|
20167696 |
2010 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identification of breast tumor mutations in BRCA1 that abolish its function in homologous DNA recombination.
|
20103620 |
2010 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Re-engineering a split-GFP reassembly screen to examine RING-domain interactions between BARD1 and BRCA1 mutants observed in cancer patients.
|
18493658 |
2008 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
|
18951446 |
2008 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.
|
16403807 |
2006 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.
|
16403807 |
2006 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility.
|
16403807 |
2006 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
|
16267036 |
2005 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Application of embryonic lethal or other obvious phenotypes to characterize the clinical significance of genetic variants found in trans with known deleterious mutations.
|
16267036 |
2005 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
|
15235020 |
2004 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.
|
15168169 |
2004 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Identification and evaluation of 55 genetic variations in the BRCA1 and the BRCA2 genes of patients from 50 Japanese breast cancer families.
|
15168169 |
2004 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex.
|
12732733 |
2003 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structure of a BRCA1-BARD1 heterodimeric RING-RING complex.
|
11573085 |
2001 |