Mutations in the DNA mismatch repair gene MLH1 associated with early-onset colon cancer.
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.
Marcos
Irene
I
Unidad Clínica de Genética y Reproducción, Hospitales Universitarios Virgen del Rocío, Sevilla, Spain.
Borrego
Salud
S
Urioste
Miguel
M
García-Vallés
Carmen
C
Antiñolo
Guillermo
G
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*
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