Genes 2013, 4(4), 536-555; doi:10.3390/genes4040536

Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer

1,2email, 1,2, 1,2email, 1,3email, 3email, 3email and 1,2,4,* email
Received: 26 July 2013; in revised form: 2 September 2013 / Accepted: 11 September 2013 / Published: 26 September 2013
(This article belongs to the Special Issue Microsatellite Instability)
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
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.
Keywords: microsatellite instability (MSI); cancer; DNA repair; diagnostic testing; HNPCC/Lynch Syndrome; copy number variation; affymetrix; array
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MDPI and ACS Style

Masson, A.L.; Talseth-Palmer, B.A.; Evans, T.-J.; Grice, D.M.; Duesing, K.; Hannan, G.N.; Scott, R.J. Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer. Genes 2013, 4, 536-555.

AMA Style

Masson AL, Talseth-Palmer BA, Evans T-J, Grice DM, Duesing K, Hannan GN, Scott RJ. Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer. Genes. 2013; 4(4):536-555.

Chicago/Turabian Style

Masson, Amy L.; Talseth-Palmer, Bente A.; Evans, Tiffany-Jane; Grice, Desma M.; Duesing, Konsta; Hannan, Garry N.; Scott, Rodney J. 2013. "Copy Number Variation in Hereditary Non-Polyposis Colorectal Cancer." Genes 4, no. 4: 536-555.

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