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Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.

Familial cancer - 1 Jan 2009

Naruse Hiromu, Ikawa Noriko, Yamaguchi Kiyoshi, Nakamura Yusuke, Arai Masami, Ishioka Chikashi, Sugano Kokichi, Tamura Kazuo, Tomita Naohiro, Matsubara Nagahide, Yoshida Teruhiko, Moriya Yoshihiro, Furukawa Yoichi

Abstract excerpt

Lynch syndrome (hereditary non-polyposis colorectal cancer) is an inherited disease caused by germ-line mutation in mismatch repair genes such as MLH1, MSH2, and MSH6. The mutations include missense and nonsense mutations, small insertions and deletions, and gross genetic alterations including large deletions and duplications. In addition to these genetic changes, mutations in introns are also involved in the...

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Share to Adaptor Proteins, Signal Transducing
Share to Colorectal Neoplasms, Hereditary Nonpolyposis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19685281
DOI: 10.1007/s10689-009-9280-6

Genes

MLH1
MSH2
MSH6

Provenance

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Related research

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Research trail→

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Determination of splice-site mutations in Lynch syndrome (hereditary non-polyposis colorectal cancer) patients using functional splicing assay.PMID 19685281Read ↗

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients.Semantic proximity Read ↗

Aberrant splicing caused by a MLH1 splice donor site mutation found in a young Japanese patient with Lynch syndrome.Semantic proximity Read ↗

Splicing analysis for exonic and intronic mismatch repair gene variants associated with Lynch syndrome confirms high concordance between minigene assays and patient <scp>RNA</scp> analysesSemantic proximity Read ↗

A large fraction of unclassified variants of the mismatch repair genes MLH1 and MSH2 is associated with splicing defects.Semantic proximity Read ↗

A novel deletion in the splice donor site of MLH1 exon 6 in a Japanese colon cancer patient with Lynch syndrome.Semantic proximity Read ↗

Systematic mRNA analysis for the effect of MLH1 and MSH2 missense and silent mutations on aberrant splicing.Semantic proximity Read ↗

Evaluating the effect of unclassified variants identified in MMR genes using phenotypic features, bioinformatics prediction, and RNA assays.Semantic proximity Read ↗

Hereditary cancer genes are highly susceptible to splicing mutations.Semantic proximity Read ↗

Mutation deep within an intron of MSH2 causes Lynch syndrome.Semantic proximity Read ↗

Analysis and interpretation of RNA splicing alterations in genes involved in genetic disorders.Semantic proximity Read ↗

Functional analysis in mouse embryonic stem cells reveals wild-type activity for three MSH6 variants found in suspected Lynch syndrome patients.Semantic proximity Read ↗

In silico Splicing Analysis of the PMS2 Gene: Exploring Alternative Molecular Mechanisms in PMS2-Associated Lynch SyndromeSemantic proximity Read ↗

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