Article
Homozygous BUB1B mutation and susceptibility to gastrointestinal neoplasia.
The New England journal of medicine - 30 Dec 2010
Rio Frio Thomas, Lavoie Josée, Hamel Nancy, Geyer Felipe C, Kushner Yaël B, Novak David J, Wark Landon, Capelli Cristian, Reis-Filho Jorge S, Mai Sabine, Pastinen Tomi, Tischkowitz Marc D, Marcus Victoria A, Foulkes William D
Abstract excerpt
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...
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