title: Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome.
abstract: Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndrome develop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of the mismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients with Lynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynch syndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a case of CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had a heterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RAS somatic mutation in the cancer cells.
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gachon University, Incheon, Korea.
authors.forename: Do Hee
authors.initials: DH
authors.lastname: Ahn
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gachon University, Incheon, Korea.
authors.forename: Jung Hee
authors.initials: JH
authors.lastname: Rho
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gachon University, Incheon, Korea.
authors.forename: Hann
authors.initials: H
authors.lastname: Tchah
authors.affiliation: Department of Pediatrics, Graduate School of Medicine, Gachon University, Incheon, Korea.
authors.forename: In-Sang
authors.initials: IS
authors.lastname: Jeon
keywords: Colorectal neoplasms; Lynch syndrome; Mismatched repair genes