ArticleJournal of cancer research and clinical oncology2010
Comparative in silico analyses and experimental validation of novel splice site and missense mutations in the genes MLH1 and MSH2.
Article in Journal of cancer research and clinical oncology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 24 citations in OpenAlex.
- Understanding the Genetic Landscape of Pancreatic Ductal Adenocarcinoma to Support Personalized Medicine: A Systematic Review.Cancers · 2023Review
- Synonymous Variants: Necessary Nuance in Our Understanding of Cancer Drivers and Treatment Outcomes.Journal of the National Cancer Institute · 2022Review
- Familial Lynch syndrome with early age of onset and confirmed splice site mutation in MSH2: A case report.Biomedical reports · 2022Article
- Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.Cancers · 2020Article
- TAMM41 is required for heart valve differentiation via regulation of PINK-PARK2 dependent mitophagy.Cell death and differentiation · 2019Article
- Article
- Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.Scientific reports · 2016Article
- RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.Science (New York, N.Y.) · 2015Article
- Alternative splicing of DNA damage response genes and gastrointestinal cancers.World journal of gastroenterology · 2014Review
- Genomic HEXploring allows landscaping of novel potential splicing regulatory elements.Nucleic acids research · 2014Article
- Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.BMC medical genetics · 2013Article
- Genetic screens to identify pathogenic gene variants in the common cancer predisposition Lynch syndrome.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- RNA splicing: a new player in the DNA damage response.International journal of cell biology · 2013Review
- Cryptic splice sites and split genes.Nucleic acids research · 2011Article
- A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.PloS one · 2011Article
- Correct mRNA processing at a mutant TT splice donor in FANCC ameliorates the clinical phenotype in patients and is enhanced by delivery of suppressor U1 snRNAs.American journal of human genetics · 2010Article
- Germline mutations in breast and ovarian cancer pedigrees establish RAD51C as a human cancer susceptibility gene.Nature genetics · 2010Article
Corrections and comments
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Authors and funding
8 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary non-polyposis colorectal cancer, an autosomal dominant predisposition to colorectal cancer and other malignancies, is caused by inactivating mutations of DNA mismatch repair genes, mainly MLH1 and MSH2. Missense mutations affect protein structure or function, but may also cause aberrant splicing, if located within splice sites (ss) or cis-acting sequences of splicing regulatory proteins, i.e., exonic splicing enhancers or exonic splicing silencers. Despite significant progress of ss scoring algorithms, the prediction for the impact of mutations on splicing is still unsatisfactory. For this study, we assessed ten ss and nine missense mutations outside ss in MLH1 and MSH2, including eleven newly identified mutations, and experimentally analyzed their effect at the RNA level. We additionally tested and compared the reliability of several web-based programs for the prediction of splicing outcome for these mutations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.