Mutation analysis of hMSH2 and hMLH1 in colorectal cancer patients in India

Genetic Testing
Thangarajan RajkumarUrmila Majhi

Abstract

The aim of this work was to study the mutation profile in hMSH2 and hMLH1 genes in hereditary nonpolyposis colorectal cancer (HNPCC) patients in India. On the basis of the Bethesda criteria, 31 colorectal cancer patients were studied first for microsatellite instability, using the five markers recommended by the Bethesda guidelines. Twelve of 31 tumor samples were found to be MSI-H, 9 of 31 were MSI-L, and the rest were MSS. The 12 patients with MSI-H were analyzed for mutations in hMSH2 and hMLH1 genes using PCR-denaturing high-performance liquid chromatography (dHPLC), followed by sequencing of samples showing abnormal peaks. Of the five mutations detected, three were found to be deleterious mutations (hMSH2-R680X, hMLH1-E671X, and a splice junction mutation IVS16-2A --> G); one had a mutation of probable significance (hMLH1-C680G) and one was of unknown significance (hMSH2-R171K). This study has also shown that most of the early-onset colon (4/7) and early-onset rectal (15/21) cancers are MSS or MSI-L. This is the first study to describe the mutation in hMSH2 and hMLH1 in Indian patients, a low incidence region for colorectal cancer. A two-stage procedure using MSI testing followed by PCR-dHPLC was found to be an efficient m...Continue Reading

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Citations

Dec 13, 2006·International Journal of Colorectal Disease·Vijay PandeyT S Sridhar
Oct 28, 2005·Breast Cancer Research and Treatment·Tomasz PoplawskiJanusz Blasiak
Jan 1, 2005·Hereditary Cancer in Clinical Practice·T RajkumarS Vijaya
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Nov 26, 2014·Molecular Carcinogenesis·Murali D BashyamAshavaid Tester
Mar 23, 2010·Diseases of the Colon and Rectum·Karin AlvarezFrancisco López-Köstner
May 5, 2010·DNA and Cell Biology·Semra DemokanNejat Dalay
Mar 14, 2018·International Journal of Colorectal Disease·Morgan AnylaYann Parc
Nov 17, 2020·Indian Journal of Gastroenterology : Official Journal of the Indian Society of Gastroenterology·Pratibha BhaiIshwar Chander Verma

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