Calibration of Multiple In Silico Tools for Predicting Pathogenicity of Mismatch Repair Gene Missense Substitutions
Bryony A Thompson, Marc S Greenblatt, Maxime P Vallee, Johanna C Herkert, Chloe Tessereau, Erin L Young, Ivan A Adzhubey, Biao Li, Russell Bell, Bingjian Feng, Sean D Mooney, Predrag Radivojac, Shamil R Sunyaev, Thierry Frebourg, Robert MW Hofstra, Rolf H Sijmons, Ken Boucher, Alun Thomas, David E Goldgar, Amanda B Spurdle Show all
Human Mutation | WILEY-BLACKWELL | Published : 2013
Awarded by NHMRC
Awarded by Cancer Australia
Awarded by NIH NCI
Contract grant sponsors: NHMRC (ID 496616); Cancer Australia (1010859); NIH NCI (P30 CA042014).For helpful discussions in refining the qualitative criteria that were used for qualitative classification of missense variants in this study, we thank the other members of the InSiGHT Mutation Interpretation Committee, Inge Bernstein, Maurizio Genuardi, Annika Lindblom, Finlay Macrae, Pal Moller, Brigitte Royer-Pokora, Rodney Scott, and Michael Woods. The following clinicians provided unpublished data regarding IHC, MSI, or clinical features: Alessandra Viel (Centro Riferimento Oncologico, Aviano, Italy), Dennis Dooijes (Erasmus University, Rotterdam, The Netherlands), Andrea Ferrari and Sylviane Olschwang (French Cancer Genetic Network), Trinidad Caldes (Hospital Clinico San Carlos, Madrid, Spain), Gabriel Capella and Ignacio Blanco (Institut Catala d'Oncologia, Barcelona, Spain), Annika Lindblom (Karolinska University Hospital, Sweden), Frans Hogervorst (The Netherlands Cancer Institute, Amsterdam, The Netherlands), Marjolijn Ligtenberg (Radbound University Nijmegen Medical Centre, The Netherlands), Bharati Bapat (Samuel Lunenfeld Research Institute, Toronto, Canada), Johan Gille (VU University Medical Centre, Amsterdam, The Netherlands). B. A. T. was awarded a PhD scholarship from the Cancer Council Queensland. A. B. S. is an NHMRC Senior Research Fellow.