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Bioinformation. 2019 Apr 15;15(4):269-276. doi: 10.6026/97320630015269. eCollection 2019.

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

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Center of Excellence in Genomic Medicine Research, King Abdulaziz University, Jeddah, Saudi Arabia.
Department of MedicalLaboratory Technology, Faculty of Applied Medical Sciences, King Abdulaziz University, Jeddah, Saudi Arabia.


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 and PMS2. 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.


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

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