Journal of the National Cancer Institute Advance Access originally published online on September 25, 2007
JNCI Journal of the National Cancer Institute 2007 99(19):1490-1491; doi:10.1093/jnci/djm140
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© The Author 2007. Published by Oxford University Press.
CORRESPONDENCE |
Response: Re: MLH1 –93G>A Promoter Polymorphism and the Risk of Microsatellite-Unstable Colorectal Cancer
Affiliations of authors: Departments of Pathology and Laboratory Medicine (SR, MM, VP, BB) and Surgery (SSG), Samuel Lunenfeld Research Institute (SR, MM, VP, SSG, JRM, JAK, BB), and Prosserman Centre for Health Research (JRM, JAK), Mount Sinai Hospital, Toronto, ON, Canada; Departments of Laboratory Medicine and Pathobiology (SR, MM, BB), Surgery (SSG), and Public Health Sciences (JRM, JAK), University of Toronto, Toronto, ON, Canada; Departments of Genetics (RCG, BHY) and Clinical Epidemiology (PSP), Faculty of Medicine (ED), Memorial University, St. Johns, NL, Canada; Ontario Familial Colorectal Cancer Registry, Cancer Care Ontario, Toronto, ON, Canada (DD)
Correspondence to: Bharati Bapat, PhD, Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, 600 University Ave, Toronto, ON, Canada M5G 1X5 (e-mail: bapat@mshri.on.ca).
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We thank Drs Hubner and Houlston for their interest in our study. Linkage disequilibrium with a mutation or another single-nucleotide polymorphism is a possibility that we considered and discussed in our article. In Ontario and Newfoundland, all case patients with a high-frequency microsatellite instability status (MSI-H) and/or mismatch repair immunohistochemical deficiency undergo germline mutation screening for the MLH1, MSH2, and MSH6 genes. This screening includes exon-by-exon genomic DNA sequencing and the detection of large genomic insertions–deletions with a multiplex
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J Natl Cancer Inst 2007 99: 1490.