copy number variation in hereditary non-polyposis colorectal cancer

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ID: 206120
2013
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Abstract
Hereditary non-polyposis colorectal cancer (HNPCC) is the commonest form of inherited colorectal cancer (CRC) predisposition and by definition describes families which conform to the Amsterdam Criteria or reiterations thereof. In ~50% of patients adhering to the Amsterdam criteria germline variants are identified in one of four DNA Mismatch repair (MMR) genes MLH1, MSH2, MSH6 and PMS2. Loss of function of any one of these genes results in a failure to repair DNA errors occurring during replication which can be most easily observed as DNA microsatellite instability (MSI)—a hallmark feature of this disease. The remaining 50% of patients without a genetic diagnosis of disease may harbour more cryptic changes within or adjacent to MLH1, MSH2, MSH6 or PMS2 or elsewhere in the genome. We used a high density cytogenetic array to screen for deletions or duplications in a series of patients, all of whom adhered to the Amsterdam/Bethesda criteria, to determine if genomic re-arrangements could account for a proportion of patients that had been shown not to harbour causative mutations as assessed by standard diagnostic techniques. The study has revealed some associations between copy number variants (CNVs) and HNPCC mutation negative cases and further highlights difficulties associated with CNV analysis.
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hannan2013genescopy Use this key to autocite in the manuscript while using SciMatic Manuscript Manager or Thesis Manager
Authors ;Garry N. Hannan;Konsta Duesing;Desma M. Grice;Amy L. Masson;Bente A. Talseth-Palmer;Tiffany-Jane Evans;Rodney J. Scott
Journal thermal science and engineering progress
Year 2013
DOI
10.3390/genes4040536
URL
http://www.mdpi.com/2073-4425/4/4/536
Keywords
Cancer DNA repair copy number variation diagnostic testing

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