Mutually Exclusive Promoter Hypermethylation Patterns of hMLH1 and O6- Methylguanine DNA Methyltransferase in Colorectal Cancer Edward J. Fox, Dermot.

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Mutually Exclusive Promoter Hypermethylation Patterns of hMLH1 and O6- Methylguanine DNA Methyltransferase in Colorectal Cancer Edward J. Fox, Dermot T. Leahy, Robert Geraghty, Hugh E. Mulcahy, David Fennelly, John M. Hyland, Diarmuid P. O'Donoghue, Kieran Sheahan The Journal of Molecular Diagnostics Volume 8, Issue 1, Pages 68-75 (February 2006) DOI: 10.2353/jmoldx.2006.050084 Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 1 Immunohistochemical staining patterns for MGMT (A–C) and hMLH1. A: Tumor with positive staining; B: tumor showing weak nuclear staining; C: tumor showing absence of nuclear staining; D: tumor showing loss of hMLH1 expression. Intratumoral endothelial cells (arrow) act as an internal positive control. An adjacent area of normal mucosa, staining positive for hMLH1, is present in the upper left corner. Magnification, ×100. The Journal of Molecular Diagnostics 2006 8, 68-75DOI: (10.2353/jmoldx.2006.050084) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 2 Methylation analysis of hMLH1 and MGMT promoters. MSP was performed with primers specific for methylated (M) and unmethylated (U) regions. Product sizes: hMLH1 unmethylated, 124 bp; hMLH1 methylated, 115 bp; MGMT unmethylated, 93 bp; and MGMT methylated, 81 bp. The Journal of Molecular Diagnostics 2006 8, 68-75DOI: (10.2353/jmoldx.2006.050084) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions

Figure 3 Schematic of the consequences of attempted mismatch repair over an unrepaired alkylated residue in an MGMT-deficient background. Alkylation of DNA in the absence of MGMT function will result in transition mutations, regardless of mismatch repair proficiency. These lesions, in the presence of proficient mismatch repair, will give rise to futile MMR cycles, resulting in the generation of DSBs in DNA. These DSBs may potentially induce various sorts of chromosomal aberrations, including aneuploidy, loss of heterozygosity, and chromosomal translocations. The Journal of Molecular Diagnostics 2006 8, 68-75DOI: (10.2353/jmoldx.2006.050084) Copyright © 2006 American Society for Investigative Pathology and Association for Molecular Pathology Terms and Conditions