Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes
出版年份 2015 全文链接
标题
Exceptions to the rule: Case studies in the prediction of pathogenicity for genetic variants in hereditary cancer genes
作者
关键词
-
出版物
CLINICAL GENETICS
Volume 88, Issue 6, Pages 533-541
出版商
Wiley
发表日期
2015-01-14
DOI
10.1111/cge.12560
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Development and validation of a new algorithm for the reclassification of genetic variants identified in the BRCA1 and BRCA2 genes
- (2014) Dmitry Pruss et al. BREAST CANCER RESEARCH AND TREATMENT
- Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium
- (2014) Mara Colombo et al. HUMAN MOLECULAR GENETICS
- A comprehensive laboratory-based program for classification of variants of uncertain significance in hereditary cancer genes
- (2013) J.M. Eggington et al. CLINICAL GENETICS
- Large numbers of individuals are required to classify and define risk for rare variants in known cancer risk genes
- (2013) Brian H. Shirts et al. GENETICS IN MEDICINE
- Functional evaluation of BRCA2 variants mapping to the PALB2-binding and C-terminal DNA-binding domains using a mouse ES cell-based assay
- (2012) Kajal Biswas et al. HUMAN MOLECULAR GENETICS
- BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk
- (2012) Amanda B Spurdle et al. JOURNAL OF MEDICAL GENETICS
- A review of a multifactorial probability-based model for classification of BRCA1 and BRCA2 variants of uncertain significance (VUS)
- (2011) Noralane M. Lindor et al. HUMAN MUTATION
- The predicted truncation from a cancer-associated variant of the MSH2 initiation codon alters activity of the MSH2-MSH6 mismatch repair complex
- (2011) Jennifer L. Cyr et al. MOLECULAR CARCINOGENESIS
- Alternative Splicing and Molecular Characterization of Splice Site Variants: BRCA1 c.591C>T as a Case Study
- (2009) V. Dosil et al. CLINICAL CHEMISTRY
- Compound heterozygosity for two MSH2 mutations suggests mild consequences of the initiation codon variant c.1A>G of MSH2
- (2008) Carolien M Kets et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007
- (2008) C Sue Richards et al. GENETICS IN MEDICINE
- Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
- (2008) David E. Goldgar et al. HUMAN MUTATION
- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
- (2008) Sharon E. Plon et al. HUMAN MUTATION
- Classification of ambiguous mutations in DNA mismatch repair genes identified in a population-based study of colorectal cancer
- (2007) Rebecca A. Barnetson et al. HUMAN MUTATION
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAsk a Question. Answer a Question.
Quickly pose questions to the entire community. Debate answers and get clarity on the most important issues facing researchers.
Get Started