Microsatellite instability at tetranucleotide repeats in skin and bladder cancer

Hadi Danaee, Heather H. Nelson, Margaret R. Karagas, Alan R. Schned, Tara Devi S. Ashok, Tomoko Hirao, Ann E. Perry, Karl T. Kelsey

Research output: Contribution to journalArticlepeer-review

56 Scopus citations


Recently, a novel form of MSI has been described that occurs only at tetranucleotide repeat markers. This has been termed elevated microsatellite instability at selected tetranucleotide repeats (EMAST). EMAST has been related to alterations of the p53 gene, and to the nature of the repeat sequence. We initially tested whether loss of heterozygosity (LOH) at the p53 and the patched (ptch) genes was related to EMAST in a series of 61 non-melanoma skin cancer (NMSC) tumors. We then analysed a series of 57 primary bladder cancers for the presence of EMAST, testing whether this was related to mutation or expression of the p53 gene. In both NMSC and bladder tumors we found a high prevalence of EMAST (75.4 and 43.9%). In NMSC the prevalence of EMAST was higher in tumors that had either p53 or ptch LOH, although the difference was not statistically significant. There was a significant association of extensive EMAST (three or more loci) with mutations in p53 among the bladder cancer tumors, but no indication of elevated EMAST in tumors with abnormal p53 staining without mutation. The association of EMAST with p53 mutation was confined to non-invasive disease. Hence, EMAST likely reflects a particular pattern of somatic events that are interactive with p53 mutation, particularly common in skin cancer and limited to non-invasive disease in bladder cancer.

Original languageEnglish (US)
Pages (from-to)4894-4899
Number of pages6
Issue number32
StatePublished - 2002

Bibliographical note

Funding Information:
The authors would like to thank Dr Howard Liber, Dr Joseph Paulauskis and Dr John B Little for helpful discussion, and Megan Bronson, Virginia Stannard, Rachel Dow and Christine Hodorowski for technical assistance. Supported by: NIH grants P42ES5947, P42ES07373, CA09078, CA82354, CA57494 and ES00002.

Copyright 2016 Elsevier B.V., All rights reserved.


  • Bladder cancer
  • Microsatellite instability
  • Ptch
  • Skin cancer
  • p53


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