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Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia. | LitMetric

AI Article Synopsis

  • * Genetic testing revealed a mutation in the BUB1B gene that affects cell division, contributing to the patient's cancer development and showing a link to mosaic variegated aneuploidy syndrome.
  • * The study highlights the role of BUB1B mutations in adult-onset cancers and suggests a connection between the BUB1B and APC proteins in cancer susceptibility.

Article Abstract

A patient received a diagnosis of adenocarcinoma of the ampulla of Vater at 34 years of age. Two decades later, adenomatous polyps were found, followed by multiple primary invasive adenocarcinomas of both the colon and the stomach. Premature chromatid separation and mosaic variegated aneuploidy, combined with structural chromosomal abnormalities, were detected in his cells. We identified a germline homozygous intronic mutation, c.2386-11A→G, in the spindle-assembly checkpoint gene BUB1B, which creates a de novo splice site that is favored over the authentic (i.e., 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. (Funded by the Turner Family Cancer Research Fund and others.).

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Source
http://dx.doi.org/10.1056/NEJMoa1006565DOI Listing

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