Pathogenic mutations and novel variants in MLH1 and MSH2 in a South African colon cancer cohort
Year: 2013
Type: dissertation
Study design: Observational Study
Abstract: Identification of mutations in the mismatch repair genes of hereditary non-polyposis colorectal cancer (HNPCC) families can lead to improved management and screening of affected family members. This study aimed to characterise the mutation profile of MLH1 and MSH2 in a South African colorectal cancer cohort. Twenty patient samples were screened for mutations in MLH1 and MSH2 using Sanger sequencing and Multiplex Ligation-dependent Probe Amplification (MLPA). Three previously reported pathogenic mutations were found using Sanger sequencing, two in MLH1 (c.454-13A>G and c.731_734delGTTA) and one in MSH2 (c.2006-6T>C). Six novel variants were detected using Sanger sequencing, two in MLH1 and four in MSH2. Further investigation of the novel variants strongly suggests that one variant in MLH1 (c.885-1G>A) is pathogenic and two have an unknown contribution towards disease. Molecular diagnostic screening of mutations in MLH1 and MSH2 has the potential to improve surveillance and management of HNPCC in South Africa.
Author: Kenneth Mark Davison
Language: English
Subfield: Pathology and Forensic Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: green
OpenAlex ID: W1585463993