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MLH1 -93G>A promoter polymorphism and risk of mismatch repair deficient colorectal cancer

Research output: Contribution to journalArticle

Published copy (DOI)


  • James M. Allan
  • Jennifer Shorto
  • Julian Adlard
  • Jonathan Bury
  • Ron Coggins
  • Rina George
  • Mark Katory
  • Philip Quirke
  • Susan Richman
  • Daniel Scott
  • Kathryn Scott
  • Matthew Seymour
  • Lois B. Travis
  • Lisa J. Worrillow
  • D. Timothy Bishop
  • Angela Cox
  • UK NCRI Colorectal Clinical Studie, Colorectal Canc Study Grp


Publication details

JournalInternational Journal of Cancer
DatePublished - 15 Nov 2008
Issue number10
Number of pages4
Pages (from-to)2456-2459
Original languageEnglish


Rare inherited mutations in the mutL homolog 1 (MLH1) DNA mismatch repair gene can confer an increased susceptibility to colorectal cancer (CRC) with high penetrance where disease frequently develops in the proximal colon. The core promoter of, MLH1 contains a common single nucleotide polymorphism (SNP) (-93G > A, dbSNP ID:rs1800734) located in a region essential for maximum transcriptional activity. We used logistic regression analysis to examine the association between this variant and risk of CRC in patients in the United Kingdom. All statistical tests were 2 sided. In an analysis of 1,518 patients with CRC, homozygosity for the MLH1 -93A variant was associated with a significantly increased 3-fold risk of CRC negative for MLH1 protein by immunohistochemistry (odds ratio (OR): AA vs GG = 3.30, 951 v CI 1.46-7.47, n = 1392, p = 0.004, MLH1 negative vs MLH1 positive CRC) and with a 68% excess of proximal CRC (OR: AA vs GG=1.68, 95% confidence interval (CI) 1.00-2.83, n = 1,518. p = 0.05, proximal vs distal CRC). These findings suggest that the MLHI -93G > A polymorphism defines a low penetrance risk allele for CRC. (C) 2008 Wiley-Liss, Inc.

    Research areas

  • MLH1, mismatch repair, colorectal, polymorphism, proximal, promoter, dna repairs, cancer, MICROSATELLITE INSTABILITY, HMLH1, GENE, SUSCEPTIBILITY, PREDISPOSITION, ASSOCIATION, MUTATION, VARIANT, POLYPS

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