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APC germline mutations identified in Czech patients with familial adenomatous polyposis

✍ Scribed by Milada Kohoutová; Jitka Štekrová; Václav Jirásek; Jan Kapras

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
157 KB
Volume
19
Category
Article
ISSN
1059-7794

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✦ Synopsis

Communicated by Georgia Chenevix-Trench

Familial adenomatous polyposis (FAP) is an autosomal dominantly inherited predisposition to colorectal cancer, which is caused by germline mutations in the adenomatous polyposis coli (APC) gene. The APC mutations have been investigated in 46 Czech unrelated FAP families and 9 suspected FAP families using DGGE analysis and direct DNA sequencing. We found 25 germline APC mutations and identified 11 which were not previously reported. Of the identified mutations, 10 were 1 to 5 bp deletions, four were 1 bp insertions and six were nonsense, all leading to the formation of premature stop codon. In addition, we detected two mutations in the splice-donor region of APC intron 11, one missense and two samesense mutations. Phenotypes of patients with known and novel types of mutations are presented and discussed.

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