Molecular Pathology Unit, Department of Pathology, Jewish General Hospital, McGill University, Room D-112, 3755, chemin de la Cote-Ste-Catherine, Montreal, QC H3T 1E2, Canada.
Fam Cancer. 2011 Dec;10(4):659-65. doi: 10.1007/s10689-011-9468-4.
This is an 11-year survey of molecular analysis of APC germline mutations for the province of Quebec done at the Molecular Pathology Unit of the Jewish General Hospital which offers genetic testing for hereditary forms of colorectal cancer for the whole of Quebec province. We report on 47 unique mutations seen in 66 families affected with familial adenomatous polyposis. Of these unique mutations, 60% are short indels, 28% are point mutations, and 6% are whole exon deletions. The absence of founder mutations and the variety of mutations encountered reinforce the value of RNA-based testing and the need for gene dosage techniques such as multiplex ligation-dependent probe amplification.
这是一项针对魁北克省 APC 种系突变的分子分析的 11 年调查，该调查是在犹太总医院的分子病理学部门进行的，该部门为整个魁北克省提供遗传性结直肠癌的基因检测服务。我们报告了在 66 个受家族性腺瘤性息肉病影响的家庭中发现的 47 个独特突变。这些独特的突变中，60%是短插入缺失，28%是点突变，6%是整个外显子缺失。没有发现创始突变和遇到的突变多样性，这加强了基于 RNA 的测试的价值，以及对基因剂量技术（如多重连接依赖性探针扩增）的需求。
