Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-years medical genetics service to French FAP patients

Arnaud Lagarde (1) , Etienne Rouleau (2) , Anthony Ferrari (3) , Tetsuro Noguchi (3) , Jinghua Qiu (3) , Adrien Briaux (2) , Violaine Bourdon (3) , Virginie Rémy (3) , Pascaline Gaildrat (4) , José Adelaïde (1) , Daniel Birnbaum (1) , Rosette Lidereau (2) , Hagay Sobol (3) , Sylviane Olschwang (1)

1 CRCM / U891 Inserm - Centre de Recherche en Cancérologie de Marseille
2 CRLCC René Huguenin - CRLCC René Huguenin
3 IPC - Institut Paoli-Calmettes
4 Génétique médicale et fonctionnelle du cancer et des maladies neuropsychiatriques

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.

Mots clés: APC gene; germline mutation; familial adenomatous polyposis; mutation spectrum; genomic rearrangements

Domaines: Sciences du Vivant [q-bio]

Arnaud Lagarde, Etienne Rouleau, Anthony Ferrari, Tetsuro Noguchi, Jinghua Qiu, et al.. Germline APC mutation spectrum derived from 863 genomic variations identified through a 15-years medical genetics service to French FAP patients. Journal of Medical Genetics, 2010, 47 (10), pp.721. ⟨10.1136/jmg.2010.078964⟩. ⟨hal-00557398⟩