|
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 |
Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations.
|
29446198 |
2018 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Contribution of germline deleterious variants in the RAD51 paralogs to breast and ovarian cancers.
|
29255180 |
2017 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Mutational analysis of BRCA1 and BRCA2 genes in Peruvian families with hereditary breast and ovarian cancer.
|
28944232 |
2017 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Characterization of BRCA1 and BRCA2 variants found in a Norwegian breast or ovarian cancer cohort.
|
27495310 |
2017 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
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 |
Efficacy of amelogenin-chitosan hydrogel in biomimetic repair of human enamel in pH-cycling systems.
|
27331142 |
2016 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Predicting the Pathogenic Potential of BRCA1 and BRCA2 Gene Variants Identified in Clinical Genetic Testing.
|
26052455 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
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 |
Benchmarking mutation effect prediction algorithms using functionally validated cancer-related missense mutations.
|
25348012 |
2014 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
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 |
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 |
CausalMutation
|
CLINVAR |
Variation in breast cancer risk associated with factors related to pregnancies according to truncating mutation location, in the French National BRCA1 and BRCA2 mutations carrier cohort (GENEPSO).
|
22762150 |
2012 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.
|
21922593 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
EMMA, a cost- and time-effective diagnostic method for simultaneous detection of point mutations and large-scale genomic rearrangements: application to BRCA1 and BRCA2 in 1,525 patients.
|
21120943 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Assessment of human Nter and Cter BRCA1 mutations using growth and localization assays in yeast.
|
21922593 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
|
21702907 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
CpG/CpNpG motifs in the coding region are preferred sites for mutagenesis in the breast cancer susceptibility genes.
|
17826769 |
2007 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
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 |
Lack of HIN-1 methylation defines specific breast tumor subtypes including medullary carcinoma of the breast and BRCA1-linked tumors.
|
14614327 |
2004 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Analysis of missense variation in human BRCA1 in the context of interspecific sequence variation.
|
15235020 |
2004 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
BRCA1 and BRCA2 mutations in Scotland and Northern Ireland.
|
12698193 |
2003 |
|
BREAST-OVARIAN CANCER, FAMILIAL, SUSCEPTIBILITY TO, 1
|
|
0.700 |
CausalMutation
|
CLINVAR |
Binding and recognition in the assembly of an active BRCA1/BARD1 ubiquitin-ligase complex.
|
12732733 |
2003 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Variation in BRCA1 cancer risks by mutation position.
|
11927492 |
2002 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Significant contribution of large BRCA1 gene rearrangements in 120 French breast and ovarian cancer families.
|
12360411 |
2002 |