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Article

Hereditary cancer genes are highly susceptible to splicing mutations.

PLoS genetics - 1 Mar 2018

Rhine Christy L, Cygan Kamil J, Soemedi Rachel, Maguire Samantha, Murray Michael F, Monaghan Sean F, Fairbrother William G

Abstract excerpt

Substitutions that disrupt pre-mRNA splicing are a common cause of genetic disease. On average, 13.4% of all hereditary disease alleles are classified as splicing mutations mapping to the canonical 5' and 3' splice sites. However, splicing mutations present in exons and deeper intronic positions are vastly underreported. A recent re-analysis of coding mutations in exon 10 of the Lynch Syndrome gene, MLH1,...

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Share to RNA Splicing
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mismatch Repair Endonuclease PMS2

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Source

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Identifiers

PMID: 29505604
DOI: 10.1371/journal.pgen.1007231
PMCID: PMC5854443

Genes

MLH1
MSH2
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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