Giulia Cini et al., Concomitant mutation and epimutation of the MLH1 gene in a Lynch syndrome family. Carcinogenesis

Giulia Cini1, Ileana Carnevali2, Michele Quaia1, Anna Maria Chiaravalli2, Paola Sala3, Elisa Giacomini1, Roberta Maestro1, Maria Grazia Tibiletti2, Alessandra Viel1

1Experimental Oncology 1, CRO Aviano, National Cancer Institute, 33081 Aviano (PN), Italy
2Pathology Unit, Ospedale di Circolo e Fondazione Macchi Polo Universitario, 21100 Varese, Italy
3Hereditary Digestive Tract Tumors Unit, Foundation IRCCS-INT, 20133 Milan, Italy

Abstract

Lynch syndrome (LS) is an inherited predisposition cancer syndrome, typically caused by germline mutations in the mismatch repair genes MLH1, MSH2, MSH6 and PMS2. In the last years, a