Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-years medical genetics service to French FAP patients
Résumé
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. The work presented here precisely delineates the APC mutation spectrum through a systematic molecular screening that identified 863 independent alterations in the French population.
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