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□ Jeder hat ein gewisses Risiko, an Krebs zu erkranken. Personen mit bestimmten genetischen Voraussetzungen haben ein gegenüber dem Durchschnitt deutlich erhöhtes Risiko. Sie wurden bisher anhand ihrer klinischen Befunde un ihrer Familienanamnesen identifiziert. Im Rahmen der Gastroenterologie gehören hierzu die Patienten mit der familiären adenomatösen Polyposis (FAP, Gardner-Syndrom), dem Peutz-Jeghers-Syndrom...
Familial adenomatous polyposis (FAP) is mainly caused by germline mutations in the adenomatous polyposis coli (APC) gene. This study aimed to detect pathogenic variants in five Chinese FAP families and review all previously reported pathogenic variants of APC gene in Chinese population.Five non-consanguineous FAP families and 100 unrelated ethnicity-matched controls were included in the study. Sanger...
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