Sequence analysis of the E-cadherin (CDH1) gene in a cohort of gastric cancers seen in the Western Cape

Master Thesis

2013

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University of Cape Town

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Gastric cancer is commonly seen in the Western Cape. There are numerous factors that contribute to the development of this cancer and these include both environmental and genetic factors. Amongst the genetic factors, the E-cadherin (CDH1) gene is said to play a major role in the development of gastric cancer. Both germline and somatic mutations have been identified in the CDH1 gene. The germline mutations span the entire exon of this gene and are seen in approximately 29% to 56% of familial gastric cancers. On the other hand, CDH1 somatic mutations are seen in approximately 31% of sporadic cancers. These mutations have been identified in exons 7 to 10, with exons 8 and 9 being the commonly mutated regions. The primary objective of this study was to determine the prevalence of CDH1 genetic mutations in gastric cancer in the Western Cape and to correlate these findings with the demographic/clinicopathologic data.
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