title: Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer.
abstract: 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.
authors.affiliation: Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain.
authors.forename: Irene
authors.initials: I
authors.lastname: Marcos
authors.forename: Salud
authors.initials: S
authors.lastname: Borrego
authors.forename: Miguel
authors.initials: M
authors.lastname: Urioste
authors.forename: Carmen
authors.initials: C
authors.lastname: García-Vallés
authors.forename: Guillermo
authors.initials: G
authors.lastname: Antiñolo
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000230:Adenocarcinoma / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D043171:Chromosomal Instability; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics*; D004260:DNA Repair / Q000235:genetics*; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D018895:Microsatellite Repeats; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics*; D012811:Sigmoid Neoplasms / Q000235:genetics*
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D002352:Carrier Proteins; C501486:MLH1 protein, human; D009687:Nuclear Proteins; C497172:MSH2 protein, human; D000070957:MutL Protein Homolog 1; D051718:MutS Homolog 2 Protein