Journal Article

<i>MLH1-93G > A</i> is a risk factor for MSI colorectal cancer

Nicola Whiffin, Peter Broderick, Steven J. Lubbe, Alan M. Pittman, Steven Penegar, Ian Chandler and Richard S. Houlston

in Carcinogenesis

Volume 32, issue 8, pages 1157-1161
Published in print August 2011 | ISSN: 0143-3334
Published online May 2011 | e-ISSN: 1460-2180 | DOI:
MLH1-93G > A is a risk factor for MSI colorectal cancer

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The -93G > A (rs1800734) polymorphism within the core promoter region of the MutL homolog 1 (MLH1) gene has recently been proposed as a low penetrance variant for colorectal cancer (CRC). We evaluated the significance of rs1800734 on CRC risk by genotyping 10 409 CRC cases and 6965 controls. The per allele odds ratio (OR) for all CRC-associated MLH1-93G > A was 1.06 (P = 0.037). Using a subset of 3132 cases with known microsatellite instability (MSI) status, the risk was shown to be confined to microsatellite instability-high (MSI-H) CRC; OR = 1.39 (P = 1.45 × 10−4). A meta-analysis of our study and four smaller published studies (totalling 801 cases, 10 890 controls) provided for increased evidence of relationship between MLH1-93G > A and MSI-H CRC risk (P = 3.43 × 10−12). The impact of MLH1-93G > A on CRC risk was shown to be independent of the 14 low penetrance loci for CRC identified by recent genome-wide association studies. These data provide further evidence that MLH1-93G > A is a low-penetrance variant for CRC and support the proposition that MLH1-93G > A acts as marker for a somatic event defining a specific CRC subtype.

Journal Article.  3499 words.  Illustrated.

Subjects: Clinical Cytogenetics and Molecular Genetics

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