Quasimonomorphic mononucleotide repeats for high-level microsatellite instability analysis

Issue title: LYNCH SYNDROME (HNPCC) AND MICROSATELLITE INSTABILITY

Article type: Research Article

Authors: Buhard, Olivier | Suraweera, Nirosha | Lectard, Aude | Duval, Alex | Hamelin, Richard

Affiliations: INSERM U434, CEPH, Paris, France

Note: [] Corresponding author: Richard Hamelin, INSERM U434-CEPH, 27 rue Juliette Dodu, 75010 Paris, France. Tel.: +33 1 53 72 51 09; Fax: +33 1 53 72 51 58; E-mail: [email protected]

Abstract: Microsatellite instability (MSI) analysis is becoming more and more important to detect sporadic primary tumors of the MSI phenotype as well as in helping to determine Hereditary Non-Polyposis Colorectal Cancer (HNPCC) cases. After some years of conflicting data due to the absence of consensus markers for the MSI phenotype, a meeting held in Bethesda to clarify the situation proposed a set of 5 microsatellites (2 mononucleotide repeats and 3 dinucleotide repeats) to determine MSI tumors. A second Bethesda consensus meeting was held at the end of 2002. It was discussed here that the 1998 microsatellite panel could underestimate high-level MSI tumors and overestimate low-level MSI tumors. Amongst the suggested changes was the exclusive use of mononucleotide repeats in place of dinucleotide repeats. We have already proposed a pentaplex MSI screening test comprising 5 quasimonomorphic mononucleotide repeats. This article compares the advantages of mono or dinucleotide repeats in determining microsatellite instability.

Keywords: MSI, mononucleotide repeats

Journal: Disease Markers, vol. 20, no. 4-5, pp. 251-257, 2004