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.
- APC gene
- germline mutation
- familial adenomatous polyposis
- mutation spectrum
- genomic rearrangements
- genetic screening/counselling
- molecular genetics
- cancer: colon
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