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January 24, 2010 | History

The contribution of hMLH1 and hMSH2 coding region polymorphisms to colorectal cancer: A population based case-control study 1 edition

The contribution of hMLH1 and hMSH2 coding region polymorphisms to co ...
Stavroula Raptis

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The contribution of hMLH1 and hMSH2 coding region polymorphisms to colorectal cancer: A population based case-control study.

Published 2006 .
Written in English.

About the Book

Single nucleotide polymorphisms (SNPs) identified in mismatch repair (MMR) genes hMLH1 and hMSH2 may have a functional role, thus influencing susceptibility to CRC, and this susceptibility may vary according to population. This case-control study examined allele frequencies of two SNPs, the common hMLH1 I219V and the rare hMSH2 G322D, in two genetically distinct Canadian populations: the heterogeneous population from Ontario and the founder population of Newfoundland. Individually, each SNP did not increase susceptibility to CRC and their frequencies did not vary between the two provinces. In Ontario CRC cases, G322D was associated with family history when compared with low risk cases (p=0.02), while in Newfoundland cases, 1219V was associated with family history based on age and cancer-modified Amsterdam criteria (p=0.04). The I219V variant also exhibited a protective effect in late stage tumours among Ontario cases (p=0.03). G322D and I219V were not associated with other clinicopathological features such as age at onset, MSI status, tumour site and tumour grade. These findings indicate that MMR low penetrance alleles may indeed contribute to CRC risk and progression.

Edition Notes

Source: Masters Abstracts International, Volume: 44-06, page: 2773.

Thesis (M.Sc.)--University of Toronto, 2006.

Electronic version licensed for access by U. of T. users.

ROBARTS MICROTEXT copy on microfiche.

The Physical Object

Pagination
94 leaves.
Number of pages
94

ID Numbers

Open Library
OL19215077M
ISBN 13
9780494161531

History Created December 11, 2009 · 2 revisions Download catalog record: RDF / JSON

January 24, 2010 Edited by WorkBot add more information to works
December 11, 2009 Created by WorkBot add works page