Please use this identifier to cite or link to this item:
Scopus Web of ScienceĀ® Altmetric
Type: Journal article
Title: Inheritance of a cancer-associated MLH1 germ-line epimutation
Author: Hitchins, M.
Wong, J.
Suthers, G.
Suter, C.
Martin, D.
Hawkins, N.
Ward, R.
Citation: New England Journal of Medicine, 2007; 356(7):697-705
Publisher: Massachusetts Medical Soc
Issue Date: 2007
ISSN: 0028-4793
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.
Keywords: Spermatozoa
Colorectal Neoplasms, Hereditary Nonpolyposis
Genetic Predisposition to Disease
Adaptor Proteins, Signal Transducing
Carrier Proteins
Nuclear Proteins
DNA Methylation
Gene Expression
Epigenesis, Genetic
Inheritance Patterns
Germ-Line Mutation
Polymorphism, Single Nucleotide
Middle Aged
MutL Protein Homolog 1
DOI: 10.1056/NEJMoa064522
Appears in Collections:Aurora harvest 6
Paediatrics publications

Files in This Item:
There are no files associated with this item.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.