Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database

Bryony Thompson , Amanda Spurdle (1) , John-Paul Plazzer , Marc Greenblatt , Kiwamu Akagi , Fahd Al-Mulla (2) , Bharati Bapat , Inge Bernstein (3) , Gabriel Capellà (4) , Johan den Dunnen (5) , Desiree Du Sart , Aurélie C.S. Fabre (6) , Michael Farrell , Susan Farrington , Ian Frayling (7) , Thierry Frebourg (8, 9) , David E. Goldgar (10) , Christopher Heinen , Elke Holinski-Feder (11) , Maija Kohonen-Corish , Kristina Lagerstedt Robinson , Suet Yi Leung , Alexandra Martins (9, 8) , Pal Moller , Monika Morak (12) , Minna Nystrom (13) , Paivi Peltomaki , Marta Pineda , Ming Qi (14) , Rajkumar Ramesar , Lene Juel Rasmussen (15) , Brigitte Royer-Pokora , Rodney Scott (16) , Rolf Sijmons , Sean Tavtigian (17) , Carli Tops , Thomas Weber (18) , Juul Wijnen (19) , Michael Woods (20) , Finlay Macrae (21) , Maurizio Genuardi (22)

1 Queensland Institute of Medical Research
2 Sans affiliation
3 HNPCC-register, Hvidovre Hospital
4 Programa de Diagnòstic Molecular de Càncer Hereditari, Laboratori de Recerca Translacional, Institut Català d'Oncologia-IDIBELL, Hospital Duran i Reynals
5 Human Genetics
6 CPTP - Centre de Physiopathologie Toulouse Purpan
7 Institute of Medical Genetics
8 GMFC - Génétique du cancer et des maladies neuropsychiatriques
9 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
10 IACR - International Agency for Cancer Research
11 University Hospital of the Ludwig-Maximilians University
12 University Hospital of the Ludwig-Maximilian-University Munich
13 Department of Biosciences
14 School of Materials and Metallurgy
15 Department of Science
16 Discipline of Medical Genetic, Faculty of Health
17 Department of Oncological Sciences
18 Department of Earth and Environmental Sciences [Rochester]
19 Department of Clinical Genetics and GROM
20 UNC - University of North Carolina [Chapel Hill]
21 Department of Colorectal Medicine and Genetics
22 Medical Genetics Unit, Department of Clinical Physiopathology

Domains: Life Sciences [q-bio]

Bryony Thompson, Amanda Spurdle, John-Paul Plazzer, Marc Greenblatt, Kiwamu Akagi, et al.. 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, 2014, 46 (2), pp.107-115. ⟨10.1038/ng.2854⟩. ⟨hal-02336401⟩