Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.

Journal article

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, whic...

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Authors: Rio Frio, T; Lavoie, J; Hamel, N; Geyer, F; Kushner, Y

• Journal: New England journal of medicine
• Volume: 363
• Issue: 27
• Pages: 2628-2637
• Publication date: 2010-12-01
• DOI: 10.1056/nejmoa1006565
• EISSN: 1533-4406
• ISSN: 0028-4793
• Language: English
• Keywords: Pedigree; Humans; Oligonucleotide Array Sequence Analysis; Adenocarcinoma; Protein-Serine-Threonine Kinases; DNA Mutational Analysis; Aged; Mosaicism; Female; Adenomatous Polyposis Coli Protein; Genetic Predisposition to Disease; Male; Germ-Line Mutation; Gastrointestinal Neoplasms; Phenotype; Adenoma; Karyotyping; Homozygote; Genomic Instability; Mitotic Spindle Apparatus; Chromosome Disorders