The role of MYH and microsatellite instability in the development of sporadic colorectal cancer

Colebatch, A., Hitchins, M., Williams, R., Meagher, A., Hawkins, N. J. and Ward, R. L. (2006) The role of MYH and microsatellite instability in the development of sporadic colorectal cancer. British Journal of Cancer, 95 9: 1239-1243. doi:10.1038/sj.bjc.6603421


Author Colebatch, A.
Hitchins, M.
Williams, R.
Meagher, A.
Hawkins, N. J.
Ward, R. L.
Title The role of MYH and microsatellite instability in the development of sporadic colorectal cancer
Formatted title
The role of MYH and microsatellite instability in the development of sporadic colorectal cancer
Journal name British Journal of Cancer   Check publisher's open access policy
ISSN 0007-0920
1532-1827
Publication date 2006-10-31
Sub-type Letter to editor, brief commentary or brief communication
DOI 10.1038/sj.bjc.6603421
Open Access Status DOI
Volume 95
Issue 9
Start page 1239
End page 1243
Total pages 5
Place of publication London, United Kingdom
Publisher Nature Publishing Group
Language eng
Formatted abstract
Biallelic germline mutations in MYH are associated with colorectal neoplasms, which develop through a pathway involving somatic inactivation of APC. In this study, we investigated the incidence of the common MYH mutations in an Australian cohort of sporadic colorectal cancers, the clinicopathological features of MYH cancers, and determined whether inactivation of mismatch repair and base excision repair (BER) were mutually exclusive. The MYH gene was sequenced from lymphocyte DNA of 872 colorectal cancer patients and 478 controls. Two compound heterozygotes were identified in the cancer population and all three cancers from these individuals displayed a prominent infiltration of intraepithelial lymphocytes. In total, 11 heterozygotes were found in the cancer group and five in the control group. One tumour from an individual with biallelic germline mutation of MYH also demonstrated microsatellite instability (MSI) as a result of biallelic hypermethylation of the MLH1 promoter. Although MYH-associated cancers are rare in a sporadic colorectal population, this study shows that these tumours can develop through either a chromosomal or MSI pathway. Tumours arising in the setting of BER or mismatch repair deficiency may share a biological characteristic, which promotes lymphocytic infiltration.
Keyword Colorectal cancer
Microsatellite instability
MYH
Q-Index Code CX
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Letter to editor, brief commentary or brief communication
Collection: School of Medicine Publications
 
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