Pathogenic mutations and novel variants in MLH1 and MSH2 in a South African colon cancer cohort

dc.contributor.author	Davison, Kenneth Mark
dc.date.accessioned	2013-03-19T07:03:30Z
dc.date.available	2013-03-19T07:03:30Z
dc.date.issued	2013-03-19
dc.description.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.	en_ZA
dc.identifier.uri	http://hdl.handle.net/10539/12571
dc.language.iso	en	en_ZA
dc.subject.mesh	Colorectal Neoplasms
dc.title	Pathogenic mutations and novel variants in MLH1 and MSH2 in a South African colon cancer cohort	en_ZA
dc.type	Thesis	en_ZA

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