Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
出版年份 2011 全文链接
标题
Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
作者
关键词
-
出版物
EUROPEAN JOURNAL OF HUMAN GENETICS
Volume 19, Issue 10, Pages 1052-1058
出版商
Springer Nature America, Inc
发表日期
2011-06-15
DOI
10.1038/ejhg.2011.100
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。- Splicing and multifactorial analysis of intronic BRCA1 and BRCA2 sequence variants identifies clinically significant splicing aberrations up to 12 nucleotides from the intron/exon boundary
- (2011) Phillip J. Whiley et al. HUMAN MUTATION
- A High Proportion of DNA Variants of BRCA1 and BRCA2 Is Associated with Aberrant Splicing in Breast/Ovarian Cancer Patients
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- Splicing mutations in glycogen-storage disease type II: evaluation of the full spectrum of mutations and their relation to patients’ phenotypes
- (2010) Stefania Zampieri et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- The deep intronic c.903+469T>C mutation in the MTRR gene creates an SF2/ASF binding exonic splicing enhancer, which leads to pseudoexon activation and causes the cblE type of homocystinuria
- (2010) Katerina Homolova et al. HUMAN MUTATION
- 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
- The BRCA1 c.5434C->G (p.Pro1812Ala) variant induces a deleterious exon 23 skipping by affecting exonic splicing regulatory elements
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- Detection of inherited mutations for breast and ovarian cancer using genomic capture and massively parallel sequencing
- (2010) Tom Walsh et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Alternative Splicing and Molecular Characterization of Splice Site Variants: BRCA1 c.591C>T as a Case Study
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- Characterization of cancer-linked BRCA1-BRCT missense variants and their interaction with phosphoprotein targets
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- Functional Assays for Classification of BRCA2 Variants of Uncertain Significance
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- Unclassified variants identified inBRCA1exon 11: Consequences on splicing
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- Genetic evidence and integration of various data sources for classifying uncertain variants into a single model
- (2008) David E. Goldgar et al. HUMAN MUTATION
- A large fraction of unclassified variants of the mismatch repair genesMLH1andMSH2is associated with splicing defects
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- Evaluation of in silico splice tools for decision-making in molecular diagnosis
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- Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs
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- The meaning of nonsense
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