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Alteration in BUB1B may predispose individuals to gastrointestinal cancers

Thursday, December 30, 2010 (Last Updated: 01/03/2011)

THURSDAY, Dec. 30 (HealthDay News) -- A single mutation in the BUB1B gene appears to result in greater susceptibility to recessively inherited gastrointestinal cancers, according to research published in the Dec. 30 issue of the New England Journal of Medicine.

Thomas Rio Frio, Ph.D., of the McGill University Health Centre in Montreal, and colleagues genetically analyzed a patient who experienced adenomatous polyps and subsequent multiple primary invasive gastrointestinal adenocarcinomas two decades after he was diagnosed with adenocarcinoma of the ampulla of Vater, at the age of 34.

The researchers identified a germline homozygous intronic mutation in the BUB1B gene that resulted in a splice site favored over the preferentially used site.

"Our findings expand the phenotype associated with BUB1B mutations and the mosaic variegated aneuploidy syndrome to include common adult-onset cancers and provide evidence for the interdependency of the APC protein (encoded by the adenomatous polyposis coli gene) and the BUBR1 protein (encoded by BUB1B) in humans," the authors conclude.

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Specialties Hematology & Oncology

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