Centre de Recherche en Cancérologie de Marseille INSERM UMR891, Marseille, France.
J Med Genet. 2010 Oct;47(10):721-2. doi: 10.1136/jmg.2010.078964. Epub 2010 Aug 3.
Heterozygous APC germline alteration is responsible for familial adenomatous polyposis, a colon cancer predisposition with almost complete penetrance. Point mutations generally lead to truncated proteins or no protein at all. They mainly involve exon 3 to codon 1700 (exon 15). The work presented here delineates precisely the APC mutation spectrum from 15 years of systematic molecular screening which identified 863 independent alterations in the French population.
杂合性 APC 种系突变是家族性腺瘤性息肉病（familial adenomatous polyposis，FAP）的致病原因，FAP 是一种结直肠癌易感性疾病，几乎完全外显。点突变通常导致截短的蛋白质或根本没有蛋白质。它们主要涉及外显子 3 到密码子 1700（外显子 15）。本研究精确描绘了 APC 突变谱，该谱来自 15 年的系统分子筛选，该筛选在法国人群中鉴定出了 863 种独立的突变。
