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Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome) | OMICS International | Abstract
ISSN: 2161-069X

Journal of Gastrointestinal & Digestive System
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Review Article

Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome)

Jaime Ruiz-Tovar*, Antonio Arroyo and Rafael Calpena
Coloproctology Unit, General University Hospital Elche (Alicante-Spain)
Corresponding Author : Jaime Ruiz-Tovar, MD, PhD
Corazon de Maria, 64
7º J, 28002-Madrid (Spain)
Tel: (0034) 63 053 4808
E-mail: jruiztovar@gmail.comu
Received November 26 , 2011; Accepted January 28, 2012; Published January 30, 2012
Citation: Tovar JR, Arroyo A, Calpena R (2012) Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome). J Gastroint Dig Syst S6:003. doi:10.4172/2161-069X.S6-003
Copyright: © 2012 Tovar JR, et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.


Colorectal cancer (CRC) is the 3rd leading cause of cancer-related death in Western countries. Between 3-8% of CRC appear as hereditary forms, being the Lynch syndrome (hereditary nonpolyposis colorectal cancer) the most frequent one. The main features of Lynch syndrome are the presentation at young ages (mean 45 years), the preferent arisal in right colon (70% of the cases), the high incidence of synchronic (10%) and metachronic (30-50%) colorectal tumors, and the association with extra colonic neoplasms (mainly adenocarcinomas in endometrium, small bowel, ovarium, stomach, ureter and bladder). Clinical diagnosis is suspected because of the familial history and it is confirmed when identifying germline mutations in the DNA repair genes (mainly MLH1 and MSH2). These mutations determine a genomic instability state known as microsatellites instability, present in over 85% of tumours belonging to the Lynch syndrome and 10-15% of sporadic neoplasms. Identification of mutations and determination of microsatellites instability imply molecular technology, expensive and with limited availability. The immunohistochemical analysis of expression of mostly affected proteins (MLH1 and MSH2) can be an interesting option.

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