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Danielle Ingham, Christine P. Diggle, Ian Berry, Claire A. Bristow, Bruce E. Hayward, Nazneen Rahman, Alexander F. Markham, Eamonn G. Sheridan, David T. Bonthron and Ian M. Carr Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome Human Mutation 34

Article first published online: 2 APR 2013 | DOI: 10.1002/humu.22311

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Mutations in the DNA mismatch repair genes predispose to childhood cancers. However, detection of constitutional or germline MSI (gMSI) has hitherto relied on technically difficult assays that are not routinely applicable for clinical diagnosis. Consequently, we have developed a simple high throughput screening methodology to detect gMSI in CMMRD patients based on the presence of stutter peaks flanking a dinucleotide repeat allele when amplified from patient blood DNA samples.

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