A survey of APC mutations in Quebec

作者：Jarry Jonathan; Brunet Jean Sebastien; Laframboise Rachel; Drouin Regen; Latreille Jean; Richard Carole; Gekas Jean; Maranda Bruno; Monczak Yury; Wong Nora; Pouchet Carly; Zaor Sonya; Kasprzak Lidia; Palma Laura; Wu Mona Kay; Tischkowitz Marc; Foulkes William D; Chong George^*

来源：Familial Cancer, 2011, 10(4): 659-665.

DOI：10.1007/s10689-011-9468-4

• Adenomatous polyposis coli
• Colorectal neoplasms
• Familial adenomatous polyposis
• Germ-line mutation
• Multiplex ligation-dependent probe amplification
• Quebec

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.

• 出版日期2011-12