The University of Southampton
University of Southampton Institutional Repository

Somatic mutations in the Peutz-Jeghers (LKB1/STK11) gene in sporadic malignant melanomas

Rowan, Andrew, Bataille, Veronique, MacKie, Rona, Healy, Eugene, Bicknell, David, Bodmer, Walter and Tomlinson, Ian (1999) Somatic mutations in the Peutz-Jeghers (LKB1/STK11) gene in sporadic malignant melanomas Journal of Investigative Dermatology, 112, (4), pp. 509-511. (doi:10.1046/j.1523-1747.1999.00551.x). (PMID:10201537).

Record type: Article

Abstract

Germline mutations in the LKB1/STK11 gene cause characteristic hamartomas and freckling to develop in patients with Peutz-Jeghers syndrome (PJS). The hamartomas arise as a result of somatic "second hits" at LKB1/STK11 and therefore contain a neoplastic element. The origin of the pigmented lesions in PJS is unknown and difficult to test, as these are hardly ever biopsied. PJS patients are at increased risk of benign and malignant tumors, particularly of the colon, breast, pancreas, testis, and ovary, although the increased risk for any one of these sites may be quite modest. Somatic LKB1/STK11 mutations have been found, albeit at a low frequency, in sporadic tumors of the colon, stomach, ovary, and testis. Although PJS patients are not known to have an excess of skin tumors, if the freckles of PJS patients are actually small, benign tumors, LKB1/STK11 mutations must provide these lesions with a selective advantage, and similar mutations might also give a selective advantage to related malignant tumors, such as melanomas. We have therefore screened 16 melanoma cell lines, 15 primary melanomas, and 19 metastases for LKB1/STK11 mutations. Two LKB1/STK11 mutations were found: a missense change (Y49D) accompanied by allele loss in a cell line; and a missense change(G135R), without a detected mutation in the other allele, in a primary tumor. Both these mutations are highly likely to be pathogenic. Novel polymorphisms, including an unusual heptanucleotide repeat, were also found in introns 2 and 3. LKB1/STK11 mutations occur in a significant minority of tumors of several sites, including malignant melanomas.

Full text not available from this repository.

More information

Published date: April 1999
Organisations: Clinical & Experimental Sciences

Identifiers

Local EPrints ID: 334272
URI: http://eprints.soton.ac.uk/id/eprint/334272
ISSN: 0022-202X
PURE UUID: 68d21bee-56f6-4c78-b6a5-1176d2c74661

Catalogue record

Date deposited: 16 Mar 2012 10:18
Last modified: 18 Jul 2017 06:12

Export record

Altmetrics

Contributors

Author: Andrew Rowan
Author: Veronique Bataille
Author: Rona MacKie
Author: Eugene Healy
Author: David Bicknell
Author: Walter Bodmer
Author: Ian Tomlinson

University divisions

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×