|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional impact of missense variants in BRCA1 predicted by supervised learning.
|
17305420 |
2007 |
|
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 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular characterization of germline mutations in the BRCA1 and BRCA2 genes from breast cancer families in Taiwan.
|
10323242 |
1999 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Structural consequences of a cancer-causing BRCA1-BRCT missense mutation.
|
12427738 |
2003 |
|
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 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Confirmation of BRCA1 by analysis of germline mutations linked to breast and ovarian cancer in ten families.
|
7894493 |
1994 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
BRCA1 and BRCA2 mutation analysis of early-onset and familial breast cancer cases in Mexico.
|
12442275 |
2002 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.
|
22277901 |
2012 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Multimodel assessment of BRCA1 mutations in Taiwanese (ethnic Chinese) women with early-onset, bilateral or familial breast cancer.
|
22277901 |
2012 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Guidelines for splicing analysis in molecular diagnosis derived from a set of 327 combined in silico/in vitro studies on BRCA1 and BRCA2 variants.
|
22505045 |
2012 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.
|
25724305 |
2015 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Structure-Function Of The Tumor Suppressor BRCA1.
|
22737296 |
2012 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Comparison of BRCA1 polymorphisms, rare sequence variants and/or missense mutations in unaffected and breast/ovarian cancer populations.
|
8776600 |
1996 |
|
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 |
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 |
Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance.
|
28781887 |
2016 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer.
|
7894491 |
1994 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Crystal structure of the BRCT repeat region from the breast cancer-associated protein BRCA1.
|
11573086 |
2001 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Impact of BRCA1 BRCT domain missense substitutions on phosphopeptide recognition.
|
21473589 |
2011 |
|
Malignant neoplasm of breast
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A high proportion of mutations in the BRCA1 gene in German breast/ovarian cancer families with clustering of mutations in the 3' third of the gene.
|
9760198 |
1998 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic.
|
25724305 |
2015 |
|
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 |
A high-throughput functional complementation assay for classification of BRCA1 missense variants.
|
23867111 |
2013 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
GeneticVariation
|
CLINVAR |
The frequency of cancer predisposition gene mutations in hereditary breast and ovarian cancer patients in Taiwan: From BRCA1/2 to multi-gene panels.
|
28961279 |
2017 |