Additional Supporting Information may be found in the online version of this article.
Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome
Article first published online: 2 APR 2013
© 2013 Wiley Periodicals, Inc.
Volume 34, Issue 6, pages 847–852, June 2013
How to Cite
Ingham, D., Diggle, C. P., Berry, I., Bristow, C. A., Hayward, B. E., Rahman, N., Markham, A. F., Sheridan, E. G., Bonthron, D. T. and Carr, I. M. (2013), Simple Detection of Germline Microsatellite Instability for Diagnosis of Constitutional Mismatch Repair Cancer Syndrome. Hum. Mutat., 34: 847–852. doi: 10.1002/humu.22311
Contract grant sponsors: Sir Jules Thorn Charitable Trust (Grant 09/JTA); EPSRC (Grant FP/I000623/1); Cancer Research UK (Grant 600130); Wellcome Trust Clinical Research Fellowship (076461/Z/05/Z).
Communicated by A. Jamie Cutichhia
- Issue published online: 20 MAY 2013
- Article first published online: 2 APR 2013
- Accepted manuscript online: 8 MAR 2013 03:57PM EST
- Manuscript Accepted: 28 FEB 2013
- Manuscript Received: 18 OCT 2012
- Sir Jules Thorn Charitable Trust. Grant Number: 09/JTA
- EPSRC. Grant Number: FP/I000623/1
- Cancer Research UK. Grant Number: 600130
- Wellcome Trust Clinical Research Fellowship. Grant Number: 076461/Z/05/Z
Disclaimer: Supplementary materials have been peer-reviewed but not copyedited.
Figure S1a. Electropherogram representing fluorescent dinucleotide microsatellite PCR products (D5S346) amplified from DNA extracted from a normal individual; this marker was rejected due to interfering peaks at ±1 nt size (shown by arrows). b. an example of a mononucleotide repeat (BAT25) amplified from a patient with a homozygous PMS2 mutation p.R802X/R802X. Mononucleotides were rejected from further analysis as in patients with germline microsatellite instability it was found to be difficult to identify the primary peaks with certainty. Labeled in red are four peaks, which may reflect the underlying genotype; the degree of instability or stutter is too great for quantitative analysis.
Table S1. Primer sequences
Table S2. Table of gMSI ratio thresholds
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