Bias in detection of instability of the (C)8 mononucleotide repeat of MSH6 in tumours from HNPCC patients View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2001-09

AUTHORS

Wiljo JF de Leeuw, Marjo van Puijenbroek, Renee Merx, Juul Th Wijnen, Annette HJT Bröcker-Vriends, Carli Tops, Hans Vasen, Cees J Cornelisse, Hans Morreau

ABSTRACT

Recently, we and others reported instability in the (C)8 repeat in exon 5 of MSH6 as a preferential target for somatic mutations in tumours from MSH6 germline mutation carriers. Here, we report that in 45% of tumours from MLH1, MSH2 and MSH6 germline mutation carriers no sequence change in the (C)8 repeat of MSH6 was found upon DNA sequencing analysis of PCR products with a shift in electrophoresis mobility. Using "standard" PCR primers a high frequency of instability (50-86%) of the (C)8 repeat was found, but using a modified PCR reverse primer, accomplishing modulation of non-templated addition of adenine during in vitro PCR amplification by the Taq polymerase, a markedly lower frequency of instability was found in tumours from MLH1, MSH2 and MSH6 mutation carriers (6, 13 and 40%, respectively). Furthermore, a significant difference of the frequency of instability of the (C)8 repeat in tumours from MSH6 mutation carriers was found compared to MLH1, MSH2 mutation carriers. These results might have important implications for the detection of instability of other short mononucleotide repeats, e.g. TGFbetaRII, BAX, IGFRII, PTEN, BRCA2. More... »

PAGES

6241

References to SciGraph publications

  • 1996-08. Frameshift mutator mutations in NATURE
  • Identifiers

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    http://scigraph.springernature.com/pub.10.1038/sj.onc.1204795

    DOI

    http://dx.doi.org/10.1038/sj.onc.1204795

    DIMENSIONS

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    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/11593433


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