|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
|
28339459 |
2017 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18.
|
28339459 |
2017 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
|
25452441 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Inherited mutations in 17 breast cancer susceptibility genes among a large triple-negative breast cancer cohort unselected for family history of breast cancer.
|
25452441 |
2015 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Comparison of mRNA splicing assay protocols across multiple laboratories: recommendations for best practice in standardized clinical testing.
|
24212087 |
2014 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer.
|
23242139 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Evaluation of a 5-tier scheme proposed for classification of sequence variants using bioinformatic and splicing assay data: inter-reviewer variability and promotion of minimum reporting guidelines.
|
23893897 |
2013 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
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, 2
|
|
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 |
|
Neoplastic Syndromes, Hereditary
|
|
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 |
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
|
21520273 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
|
21520273 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.
|
21965345 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Clinical impact of unclassified variants of the BRCA1 and BRCA2 genes.
|
21965345 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Assessment of rare BRCA1 and BRCA2 variants of unknown significance using hierarchical modeling.
|
21520273 |
2011 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes.
|
21702907 |
2011 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
|
20513136 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
|
20104584 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Characterization of BRCA1 and BRCA2 deleterious mutations and variants of unknown clinical significance in unilateral and bilateral breast cancer: the WECARE study.
|
20104584 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
|
20215541 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
A high proportion of DNA variants of BRCA1 and BRCA2 is associated with aberrant splicing in breast/ovarian cancer patients.
|
20215541 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
CausalMutation
|
CLINVAR |
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
|
20513136 |
2010 |
|
Hereditary Breast and Ovarian Cancer Syndrome
|
|
0.700 |
GeneticVariation
|
CLINVAR |
Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity.
|
20513136 |
2010 |
|
Neoplastic Syndromes, Hereditary
|
|
0.700 |
CausalMutation
|
CLINVAR |
Classifying Variants of Undetermined Significance in BRCA2 with protein likelihood ratios.
|
19043619 |
2008 |