Inheritance of a cancer-associated MLH1 germ-line epimutation

Hitchins, Megan P., Wong, Justin J. L., Suthers, Graerne, Suter, Catherine M., Martin, David I. K., Hawkins, Nicholas J. and Ward, Robyn L. (2007) Inheritance of a cancer-associated MLH1 germ-line epimutation. New England Journal of Medicine, 356 7: 697-705. doi:10.1056/NEJMoa064522

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Author Hitchins, Megan P.
Wong, Justin J. L.
Suthers, Graerne
Suter, Catherine M.
Martin, David I. K.
Hawkins, Nicholas J.
Ward, Robyn L.
Title Inheritance of a cancer-associated MLH1 germ-line epimutation
Formatted title
Inheritance of a cancer-associated MLH1 germ-line epimutation
Journal name New England Journal of Medicine   Check publisher's open access policy
ISSN 0028-4793
1533-4406
Publication date 2007-02-15
Sub-type Critical review of research, literature review, critical commentary
DOI 10.1056/NEJMoa064522
Open Access Status File (Publisher version)
Volume 356
Issue 7
Start page 697
End page 705
Total pages 9
Place of publication Waltham, MA, United States
Publisher Massachusetts Medical Society
Language eng
Formatted abstract
Persons who have hypermethylation of one allele of MLH1 in somatic cells throughout the body (a germ-line epimutation) have a predisposition for the development of cancer in a pattern typical of hereditary nonpolyposis colorectal cancer. By studying the families of two such persons, we found evidence that the epimutation was transmitted from a mother to her son but was erased in his spermatozoa. The affected maternal allele was inherited by three other siblings from these two families, but in those offspring the allele had reverted to the normal active state. These findings demonstrate a novel pattern of inheritance of cancer susceptibility and are consistent with transgenerational epigenetic inheritance. Copyright
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Critical review of research, literature review, critical commentary
Collection: School of Medicine Publications
 
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Created: Wed, 11 Feb 2015, 20:43:27 EST by Ms Kate Rowe on behalf of School of Medicine