Early onset of colorectal cancer in a 13-yearoldgirl with lynch syndrome
- Authors
- Ahn, D.H.; Rho, J.H.; Tchah, H.; Jeon, I.-S.
- Issue Date
- 2016
- Publisher
- Korean Pediatric Society
- Keywords
- Colorectal neoplasms; Lynch syndrome; Mismatched repair genes
- Citation
- Korean Journal of Pediatrics, v.59, no.1, pp.40 - 42
- Journal Title
- Korean Journal of Pediatrics
- Volume
- 59
- Number
- 1
- Start Page
- 40
- End Page
- 42
- URI
- https://scholarworks.bwise.kr/gachon/handle/2020.sw.gachon/8782
- DOI
- 10.3345/kjp.2016.59.1.40
- ISSN
- 1738-1061
- Abstract
- Lynch syndrome is the most common inherited colon cancer syndrome. Patients with Lynch syndromedevelop a range of cancers including colorectal cancer (CRC) and carry a mutation on one of themismatched repair (MMR) genes. Although CRC usually occurs after the fourth decade in patients withLynch syndrome harboring a heterozygous MMR gene mutation, it can occur in children with Lynchsyndrome who have a compound heterozygous or homozygous MMR gene mutation. We report a caseof CRC in a 13-year-old patient with Lynch syndrome and congenital heart disease. This patient had aheterozygous mutation in MLH1 (an MMR gene), but no compound MMR gene defects, and a K-RASsomatic mutation in the cancer cells. © 2016 by The Korean Pediatric Society.
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