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 c...

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Veröffentlicht in:	The Journal of pediatrics 2006-06, Vol.148 (6), p.837-839
Hauptverfasser:	Marcos, Irene, Borrego, Salud, Urioste, Miguel, García-Vallés, Carmen, Antiñolo, Guillermo
Format:	Artikel
Sprache:	eng
Schlagworte:	Adaptor Proteins, Signal Transducing Adenocarcinoma - genetics Biological and medical sciences Carrier Proteins - genetics Child Chromosomal Instability Colorectal Neoplasms, Hereditary Nonpolyposis - genetics DNA Repair - genetics Gastroenterology. Liver. Pancreas. Abdomen General aspects Germ-Line Mutation Humans Male Medical sciences Microsatellite Repeats MutL Protein Homolog 1 MutS Homolog 2 Protein - genetics Nuclear Proteins - genetics Sigmoid Neoplasms - genetics Stomach. Duodenum. Small intestine. Colon. Rectum. Anus Tumors
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Zusammenfassung:	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.
ISSN:	0022-3476 1097-6833
DOI:	10.1016/j.jpeds.2006.01.009