Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants

Rossella Tricarico (1, 2) , Mariann Kasela (3) , Cristina Mareni (1) , Bryony Thompson (4, 5) , Aurélie Drouet (6) , Lucia Staderini (1, 7) , Greta Gorelli (1) , Francesca Crucianelli (1) , Valentina Ingrosso (1) , Jukka Kantelinen (3) , Laura Papi (1) , Maria de Angioletti (8) , Margherita Berardi (8) , Pascaline Gaildrat (6, 9) , Omar Soukarieh (9, 6) , Daniela Turchetti (10) , Alexandra Martins (9, 6) , Amanda Spurdle (11, 12) , Minna Nystrom (3) , Maurizio Genuardi (13, 1)

1 UniFI - Università degli Studi di Firenze = University of Florence
2 Fox Chase Cancer Center
3 Helsingin yliopisto = Helsingfors universitet = University of Helsinki
4 Huntsman Cancer Institute [Salt Lake City]
5 Melbourne School of Population and Global Health [Melbourne]
6 GPMCND - Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques
7 Fondazione IRCCS Policlinico San Matteo [Pavia]
8 Istituto Toscano Tumori (CRL-ITT)
9 GMFC - Génétique du cancer et des maladies neuropsychiatriques
10 University of Bologna/Università di Bologna
11 Queensland Institute of Medical Research
12 QIMR Berghofer Medical Research Institute
13 Fondazione Policlinico Universitario Agostino Gemelli IRCCS

Domains: Life Sciences [q-bio]

Rossella Tricarico, Mariann Kasela, Cristina Mareni, Bryony Thompson, Aurélie Drouet, et al.. Assessment of the InSiGHT Interpretation Criteria for the Clinical Classification of 24 MLH1 and MSH2 Gene Variants. Human Mutation, 2017, 38 (1), pp.64-77. ⟨10.1002/humu.23117⟩. ⟨hal-02336175⟩