Article
Lynch syndrome: influence of additional susceptibility variants on cancer risk.
European journal of human genetics : EJHG - 1 Sept 2023
Vibert Roseline, Hasnaoui Jasmine, Perrier Alexandre, Lefebvre Alexandra, Colas Chrystelle, Dhooge Marion, Basset Noémie, Chansavang Albain, Desseignes Camille, Duval Alex, Farelly Solenne, Hamzaoui Nadim, Laurent-Puig Pierre, Metras Julie, Moliere Diane, Muleris Martine, Netter Jeanne, Touat Mehdi, Bielle Franck, Labreche Karim, Nicolle Romain, Perkins Géraldine, Warcoin Mathilde, Coulet Florence, Benusiglio Patrick R
Abstract excerpt
Some patients with Lynch syndrome (LS) have extreme phenotypes, i.e. cancer before the recommended screening age, or cancer for which there are no screening guidelines. We made the hypothesis that additional germline variants in cancer susceptibility genes (CSG) could explain some of these phenotypes. We compared the prevalence of additional CSG variants in LS patients with a cancer diagnosis before age 30...
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