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Title

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

 

Authors

Mahmood Rasool1*, Sajjad Karim1, Muhammad Imran Naseer1, Peter Natesan Pushparaj1, Adel Abuzenadah1,2, 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

 

Abstract

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.