Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/24490

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Title
Frequency of the common MYH mutations (G382D and Y165C) in MMR mutation positive and negative HNPCC patients
Author/Creator
Ashton, Katie A.;  Kairupan, C. F.;  Scott, Rodney J.;  Meldrum, C. J.;  McPhillips, M. L.
Description
Recently mutations in the MYH gene have been associated with a milder form of adenomatous polyposis which is characterized by a variable level of colonic polyps ranging from a few to several hundred. In the context of HNPCC it is not unusual to identify patients with a smattering of polyps. The MYH gene product is involved in DNA repair and indeed the hMSH2/hMSH6 complex (both genes being essential elements of the DNA mismatch repair pathway) is required to stimulate MYH activity. We reasoned that because of the clinical similarity of a subset of HNPCC patients to those described with MYH mutations and the role of the hMSH2/hMSH6 complex in the activation of MYH protein that MYH mutations may account for a small proportion of HNPCC patients. In a study of 442 HNPCC patients we identified MYH mutations at the same frequency as that expected in the general population. Nevertheless, two HNPCC families were identified harbouring biallelic changes in MYH.
Relation
Hereditary Cancer in Clinical Practice Vol. 3, no. 2, p. 65-70
Date
2005
Publisher
Termedia Publishing House
Keyword(s)
BER;  HNPCC;  MMR;  Modifier genes;  Mutations;  MYH
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/24490
Identifier
ISSN:1731-2302
Language
eng
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Subject
"Hereditary Cancer in Clinical Practice"
 
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