Article
Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Nature genetics - 1 Feb 2014
Thompson Bryony A, Spurdle Amanda B, Plazzer John-Paul, Greenblatt Marc S, Akagi Kiwamu, Al-Mulla Fahd, Bapat Bharati, Bernstein Inge, Capellá Gabriel, den Dunnen Johan T, du Sart Desiree, Fabre Aurelie, Farrell Michael P, Farrington Susan M, Frayling Ian M, Frebourg Thierry, Goldgar David E, Heinen Christopher D, Holinski-Feder Elke, Kohonen-Corish Maija, Robinson Kristina Lagerstedt, Leung Suet Yi, Martins Alexandra, Moller Pal, Morak Monika, Nystrom Minna, Peltomaki Paivi, Pineda Marta, Qi Ming, Ramesar Rajkumar, Rasmussen Lene Juel, Royer-Pokora Brigitte, Scott Rodney J, Sijmons Rolf, Tavtigian Sean V, Tops Carli M, Weber Thomas, Wijnen Juul, Woods Michael O, Macrae Finlay, Genuardi Maurizio
Abstract excerpt
The clinical classification of hereditary sequence variants identified in disease-related genes directly affects clinical management of patients and their relatives. The International Society for Gastrointestinal Hereditary Tumours (InSiGHT) undertook a collaborative effort to develop, test and apply a standardized classification scheme to constitutional variants in the Lynch syndrome-associated genes MLH1, MSH2,...
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