Article
Genetic variation at KIT locus may predispose to melanoma.
Pigment cell & melanoma research - 1 Jan 2013
Bourillon Agnes, Hu Hui-Han, Hetet Gilles, Lacapere Jean-Jacques, André Jocelyne, Descamps Vincent, Basset-Seguin Nicole, Ogbah Zighereda, Puig Susana, Saiag Philippe, Bagot Martine, Bensussan Armand, Grandchamp Bernard, Dumaz Nicolas, Soufir Nadem
Abstract excerpt
As loss of KIT frequently occurs in melanoma progression, we hypothesized that KIT is implicated in predisposition to melanoma (MM). Thus, we sequenced the KIT coding region in 112 familial MM cases and 143 matched controls and genotyped tag single-nucleotide polymorphisms (SNPs) in two cohorts of melanoma patients and matched controls. Five rare KIT substitutions, all predicted possibly or probably deleterious,...
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