Title

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

Authors

Mahmood Rasool^1*, Sajjad Karim¹, Muhammad Imran Naseer¹, Peter Natesan Pushparaj¹, Adel Abuzenadah^1,2, Mohammed Hussein Al-Qahtani¹

Affiliation

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.

Email

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

Article Type

Research Article

Date

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.

Keywords

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

Citation

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

Edited by

P Kangueane

ISSN

0973-2063

Publisher

Biomedical Informatics

License

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.