Article
Low frequency of AXIN2 mutations and high frequency of MUTYH mutations in patients with multiple polyposis.
Human mutation - 1 Oct 2006
Lejeune Sophie, Guillemot François, Triboulet Jean-Pierre, Cattan Stéphane, Mouton Christine, Porchet Nicole, Manouvrier Sylvie, Buisine Marie-Pierre
Abstract excerpt
Familial adenomatous polyposis has been linked to germline mutations in the APC tumor suppressor gene. However, a number of patients with familial adenomatous polyposis (with either classical or attenuated phenotype) have no APC mutation. Recently, germline mutations in the Wnt pathway component gene AXIN2 have been associated with tooth agenesis-colorectal cancer syndrome. Moreover, biallelic mutations in the...
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