Article
A single Mediterranean, possibly Jewish, origin for the Val59Gly CDKN2A mutation in four melanoma-prone families.
European journal of human genetics : EJHG - 1 Apr 2003
Yakobson Emanuel, Eisenberg Shlomit, Isacson Ruth, Halle David, Levy-Lahad Efrat, Catane Raphael, Safro Mark, Sobolev Vladimir, Huot Thomas, Peters Gordon, Ruiz Anna, Malvehy Josep, Puig Suzana, Chompret Agnes, Avril Marie-Fracoise, Shafir Raphael, Peretz Hava, Bressac-de Paillerets Brigitte
Abstract excerpt
We have screened for CDKN2A germline mutations in 49 Jewish families with two or more cases of melanoma. The Val59Gly mutation, one of the three different alterations identified among these families, was also detected independently in two kindreds from France and one from Spain. The impact of the Val59Gly substitution on the function of the cyclin-dependent kinase inhibitor p16(INK4a), a product of the CDKN2A...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.