Register for email alerts and news feeds:
This journal | BMJ Group
rss
The most recent version of this article was published on 1 October 2008

J Med Genet. Published Online First: 29 May 2008. doi:10.1136/jmg.2008.059329
Copyright © 2008 by the BMJ Publishing Group Ltd.

Review article

Mosaicism in Sporadic Neurofibromatosis Type 1: Variations on a Theme Common to Other Hereditary Cancer Syndromes?

Hildegard Kehrer-Sawatzki 1* and David N Cooper 2

1 University of Ulm, Germany
2 Institute of Medical Genetics, United Kingdom

* To whom correspondence should be addressed. E-mail: hildegard.kehrer-sawatzki{at}uni-ulm.de.

Accepted 4 May 2008


Abstract

Mosaicism constitutes a frequent complication of the genotype-phenotype relationship in genetic disease and is an important consideration for the estimation of transmission risk. Mosaicism has been identified in several hereditary cancer syndromes including retinoblastoma, familial adenomatous polyposis coli, von Hippel-Lindau disease and neurofibromatosis type 2. Recent data support the postulate that the frequency of mosaicism is increased in cancer predisposition syndromes characterized by high new mutation rates. Since the new mutation rate is very high in neurofibromatosis type 1 (NF1), mosaicism might reasonably be expected to be frequent among sporadic cases but this remains to be formally demonstrated. Here we summarize current knowledge of mosaicism in NF1, focussing on the types of mutations identified as well as their inferred developmental timing and representation in different cell types, and assess the potential impact of high frequency mosaicism on mutation screening in patients with apparent de novo NF1.
Add to CiteULike CiteULike   Add to Complore Complore   Add to Connotea Connotea   Add to Del.icio.us Del.icio.us   Add to Digg Digg   Add to Reddit Reddit   Add to Technorati Technorati    What's this?

This article has been cited by other articles:

  • Brems, H., Park, C., Maertens, O., Pemov, A., Messiaen, L., Upadhyaya, M., Claes, K., Beert, E., Peeters, K., Mautner, V., Sloan, J. L., Yao, L., Lee, C.-C. R., Sciot, R., De Smet, L., Legius, E., Stewart, D. R. (2009). Glomus Tumors in Neurofibromatosis Type 1: Genetic, Functional, and Clinical Evidence of a Novel Association. Cancer Res. 69: 7393-7401 [Abstract] [Full Text]  

This Article

Services
Citing Articles
Google Scholar
PubMed
Bookmark with

Register for free content

The full back archive is now available for all BMJ Journals. Institutional subscribers may access the entire archive as part of their subscription. Personal subscribers will also have access to all content when logged in. Non-subscribers who register have free access to all articles published before 2006 right back to volume 1 issue 1. Register here to access the free archive of all BMJ Journals.

Don't forget to sign up for content alerts so you keep up to date with all the articles as they are published.

Genetics jobs

Genetics jobs

Show me all >>