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Genetic Analysis of Archived Tumor Specimens for Hereditary Colorectal Cancer Syndromes in the Cajuns of Louisiana, a US Founder Population.

Jordan J KarlitzAmanda PhillipsKelly S SorrellsShanti Rao
Published in: Clinical and translational gastroenterology (2021)
This is the first study assessing for hereditary CRC in a large US regional founder population. This small study did not identify clear Cajun founder pathogenic variants. However, larger studies are warranted, which could also help clarify the clinical significance of the adenomatous polyposis coli variant of unknown significance. This study is important because it demonstrates that a retrospective tumor analysis can be used to ascertain the prevalence of genetic susceptibility in specific populations.
Keyphrases
  • escherichia coli
  • risk factors
  • gene expression
  • genome wide
  • fine needle aspiration