标题
Unclassified variants in BRCA genes: guidelines for interpretation
作者
关键词
-
出版物
ANNALS OF ONCOLOGY
Volume 22, Issue suppl 1, Pages i18-i23
出版商
Oxford University Press (OUP)
发表日期
2011-02-01
DOI
10.1093/annonc/mdq661
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。- A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients
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- Clinical relevance of rare germline sequence variants in cancer genes: evolution and application of classification models
- (2010) Amanda B Spurdle CURRENT OPINION IN GENETICS & DEVELOPMENT
- LOH analysis should not be used as a tool to assess whether UVs of BRCA1/2 are pathogenic or not
- (2010) E. Beristain et al. Familial Cancer
- Detection of splicing aberrations caused by BRCA1 and BRCA2 sequence variants encoding missense substitutions: implications for prediction of pathogenicity
- (2010) Logan C. Walker et al. HUMAN MUTATION
- A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example
- (2009) Leila Mohammadi et al. BMC CANCER
- Multimodal Assessment of Protein Functional Deficiency Supports Pathogenicity of BRCA1 p.V1688del
- (2009) A. De Nicolo et al. CANCER RESEARCH
- Expression of human BRCA1 variants in mouse ES cells allows functional analysis of BRCA1 mutations
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- Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
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- Prediction and assessment of splicing alterations: implications for clinical testing
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- Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results
- (2008) Sharon E. Plon et al. HUMAN MUTATION
- A yeast recombination assay to characterize humanBRCA1missense variants of unknown pathological significance
- (2008) Maria Adelaide Caligo et al. HUMAN MUTATION
- Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs
- (2008) Maaike P.G. Vreeswijk et al. HUMAN MUTATION
- Clinical Classification ofBRCA1andBRCA2DNA Sequence Variants: The Value of Cytokeratin Profiles and Evolutionary Analysis—A Report From the kConFab Investigators
- (2008) Amanda B. Spurdle et al. JOURNAL OF CLINICAL ONCOLOGY
- BRCA1p.Val1688del Is a Deleterious Mutation That Recurs in Breast and Ovarian Cancer Families From Northeast Italy
- (2007) Sandro Malacrida et al. JOURNAL OF CLINICAL ONCOLOGY
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