Journal
INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY
Volume 41, Issue 1, Pages 34-39Publisher
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.biocel.2008.09.006
Keywords
DNA methylation; Cancer predisposition; Epimutations; Inheritance; Single nucleotide polymorphisms
Categories
Funding
- National Health and Medical Research Council of Australia
- Cancer Council of Victoria
- Susan Komen Foundation
- US Department of Defense Breast Cancer Research Program [W81XWH-05-1-0500, W81XWH-06-1-0670]
Ask authors/readers for more resources
Hereditary cancer syndromes caused by germline mutations give rise to distinct spectra of cancel's with characteristic clinico-pathological features. Many of these hereditary cancer genes are silenced by methylation in a similar spectrum of sporadic cancers. It is likely that the initiating event in some of those cases of sporadic cancer is the somatic epigenetic inactivation (epimutation) of the same hereditary cancer gene. Recently, it has been shown that epimutations of certain hereditary cancer genes can be constitutional i.e. Present till throughout the soma. These epimutations may be inherited or arise very early in the germline. The heritability of these epimutations is very low as in most cases they are erased by passage through the germline. In other cases, predisposition to epimutations rather than the epimutations themselves call be inherited. These cases are characterised by Mendelian inheritance and are likely to be associated with sequence variants. Other sequence variants and environmental influences may also affect methylation propensity at a global level. Crown Copyright (C) 2008 Published by Elsevier Ltd. All rights reserved.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available