Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction
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Title
Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction
Authors
Keywords
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Journal
PLoS One
Volume 7, Issue 12, Pages e50800
Publisher
Public Library of Science (PLoS)
Online
2012-12-12
DOI
10.1371/journal.pone.0050800
References
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Related references
Note: Only part of the references are listed.- Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members
- (2011) Mads Thomassen et al. BREAST CANCER RESEARCH AND TREATMENT
- Contribution of bioinformatics predictions and functional splicing assays to the interpretation of unclassified variants of the BRCA genes
- (2011) Jean Christophe Théry et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- 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
- Prediction of single-nucleotide substitutions that result in exon skipping: identification of a splicing silencer in BRCA1 exon 6
- (2011) Michela Raponi et al. HUMAN MUTATION
- Effect of BRCA2 sequence variants predicted to disrupt exonic splice enhancers on BRCA2transcripts
- (2010) Phillip J Whiley et al. BMC Medical Genetics
- 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
- (2010) P. Gaildrat et al. JOURNAL OF MEDICAL GENETICS
- Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene
- (2010) Alfons Meindl et al. NATURE GENETICS
- Alternative Splicing and Molecular Characterization of Splice Site Variants: BRCA1 c.591C>T as a Case Study
- (2009) V. Dosil et al. CLINICAL CHEMISTRY
- Human Splicing Finder: an online bioinformatics tool to predict splicing signals
- (2009) François-Olivier Desmet et al. NUCLEIC ACIDS RESEARCH
- Proceedings of the International Consensus Conference on Breast Cancer Risk, Genetics, & Risk Management, April, 2007
- (2008) Gordon F. Schwartz et al. CANCER
- Unclassified variants identified inBRCA1exon 11: Consequences on splicing
- (2008) Olga Anczuków et al. GENES CHROMOSOMES & CANCER
- Evaluation of in silico splice tools for decision-making in molecular diagnosis
- (2008) Claude Houdayer et al. HUMAN MUTATION
- Prediction and assessment of splicing alterations: implications for clinical testing
- (2008) Amanda B. Spurdle 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
- Intronic variants inBRCA1andBRCA2that affect RNA splicing can be reliably selected by splice-site prediction programs
- (2008) Maaike P.G. Vreeswijk et al. HUMAN MUTATION
- Clinically Applicable Models to CharacterizeBRCA1andBRCA2Variants of Uncertain Significance
- (2008) Andrew D. Spearman et al. JOURNAL OF CLINICAL ONCOLOGY
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