Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer

Marcos, Irene; Borrego, Salud; Urioste, Miguel; García-Vallés, Carmen; Antiñolo, Guillermo

doi:10.1016/j.jpeds.2006.01.009

« Previous Next »The Journal of Pediatrics
Volume 148, Issue 6 , Pages 837-839, June 2006

Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer

From the Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain; the Departamento de Genética Humana, Centro Nacional de Investigaciones Oncológicas (CNIO), Madrid, Spain; and the Servicio de Cirugía Pediátrica, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain

Received 19 May 2005; received in revised form 22 December 2005; accepted 6 January 2006.

Hereditary nonpolyposis colon cancer (HNPCC) is an autosomal dominant disorder characterized by the predisposition to develop a number of cancers, especially colorectal cancer (CRC). We present a HNPCC family with CRC at age 12 years. Our observations suggest that the germline mutation of the both copies of the MLH1 gene may play a role in the early onset of CRC.

Abbreviations: CRC, Colorectal cancer , HNPCC, Hereditary nonpolyposis colon cancer , MMR, Mismatch repair , MSI, Microsatellite instability