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Gene mapping and molecular analysis of hereditary non-polyposis colorectal cancer (Lynch Syndrome) using systems biological approaches



Mahmood Rasool1*, Sajjad Karim1, Muhammad Imran Naseer1, Peter Natesan Pushparaj1, Adel Abuzenadah1,2, Mohammed Hussein Al-Qahtani1



1Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia;

2Department of Medical Laboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.



Dr. Mahmood Rasool - Email: mahmoodrasool@yahoo.com; *Corresponding Author


Article Type

Research Article



Received January 26, 2019; Accepted March 1, 2019; Published April 15, 2019



Hereditary non-polyposis colorectal cancer (HNPCC) also known as Lynch Syndrome (LS), is a hereditary form of colorectal cancer (CRC). LSis caused by mutations in the mismatch repair (MMR) genes, mostly in MLH1, MSH2, MSH6 andPMS2. Identification of these gene mutations is essential to diagnose CRC, especially at a young age to increase the survival rate. Using open target platform, we have performed genetic association studies to analyze the different genes involved in the LS and to obtain target for disease evidence. We have also analyzed upstream regulators as target molecules in the data sets. We discovered that MLH1, MSH2, MSH6, PMS2, MLH3, EPCAM, TGFBR2, FBXO11 and PRSS58 were showing most association in LS. Our findings may further enhance the understanding of the hereditaryform of CRC.



Lynch syndrome, HNPCC, Mismatch repair genes, Open target platform



Rasool et al. Bioinformation 15(4): 269-276 (2019)


Edited by

P Kangueane






Biomedical Informatics



This is an Open Access article which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly credited. This is distributed under the terms of the Creative Commons Attribution License.