Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: Have we been missing anything?

Mark Clendenning, Michael D. Walsh, Judith Balmana Gelpi, Stephen N. Thibodeau, Noralane Lindor, John D. Potter, Polly Newcomb, Loic Lemarchand, Robert Haile, Steve Gallinger, John L. Hopper, Mark A. Jenkins, Christophe Rosty, Joanne P. Young, Daniel D. Buchanan

Research output: Contribution to journalArticle

11 Scopus citations

Abstract

Current screening practices have been able to identify PMS2 mutations in 78 % of cases of colorectal cancer from the Colorectal Cancer Family Registry (Colon CFR) which showed solitary loss of the PMS2 protein. However the detection of large-scale deletions in the 3′ end of the PMS2 gene has not been possible due to technical difficulties associated with pseudogene sequences. Here, we utilised a recently described MLPA/long-range PCR-based approach to screen the remaining 22 % (n = 16) of CRC-affected probands for mutations in the 3′ end of the PMS2 gene. No deletions encompassing any or all of exons 12 through 15 were identified; therefore, our results suggest that 3′ deletions in PMS2 are not a frequent occurrence in such families.

Original languageEnglish (US)
Pages (from-to)563-566
Number of pages4
JournalFamilial Cancer
Volume12
Issue number3
DOIs
StatePublished - Sep 1 2013

Keywords

  • Colorectal cancer
  • Germline testing
  • Large deletions
  • Lynch syndrome
  • PMS2
  • Pseudogenes

ASJC Scopus subject areas

  • Genetics
  • Oncology
  • Genetics(clinical)
  • Cancer Research

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    Clendenning, M., Walsh, M. D., Gelpi, J. B., Thibodeau, S. N., Lindor, N., Potter, J. D., Newcomb, P., Lemarchand, L., Haile, R., Gallinger, S., Hopper, J. L., Jenkins, M. A., Rosty, C., Young, J. P., & Buchanan, D. D. (2013). Detection of large scale 3′ deletions in the PMS2 gene amongst Colon-CFR participants: Have we been missing anything? Familial Cancer, 12(3), 563-566. https://doi.org/10.1007/s10689-012-9597-4