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http://dx.doi.org/10.3345/kjp.2016.59.1.40

Early onset of colorectal cancer in a 13-year-old girl with Lynch syndrome  

Ahn, Do Hee (Department of Pediatrics Graduate School of Medicine, Gachon University)
Rho, Jung Hee (Department of Pediatrics Graduate School of Medicine, Gachon University)
Tchah, Hann (Department of Pediatrics Graduate School of Medicine, Gachon University)
Jeon, In-Sang (Department of Pediatrics Graduate School of Medicine, Gachon University)
Publication Information
Clinical and Experimental Pediatrics / v.59, no.1, 2016 , pp. 40-42 More about this Journal
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.
Keywords
Lynch syndrome; Mismatched repair genes; Colorectal neoplasms;
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