LETTER TO JMG

STK11 genotyping and cancer risk in Peutz-Jeghers syndrome

V Schumacher¹, T Vogel², B Leube¹, C Driemel³, T Goecke¹, G Möslein³, B Royer-Pokora¹

¹ Institute of Human Genetics and Anthropology, University of Düsseldorf, Universitaetsstrasse 1, 40225 Düsseldorf, Germany
² Department of Traumatological Surgery, University of Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany
³ Department of General and Visceral Surgery, University of Düsseldorf, Moorenstrasse 5, 40225 Düsseldorf, Germany

Correspondence to:
Correspondence to:
Dr. Valérie Schumacher
Heinrich-Heine Universitaet Düsseldorf, Institut für Humangenetik und Anthropologie, Universitaetsstrasse 1, D-40225 Düsseldorf; schumacv@uni-duesseldorf.de

Received 10 August 2004
Revised version received 28 September 2004

Accepted 29 September 2004

Keywords: familial cancer syndrome; functional protein domains; genotype-phenotype correlation; tumour suppressor gene

The first 150 words of the full text of this article appear below.

Peutz-Jeghers syndrome (PJS; OMIM #175200) is an autosomal dominant disorder characterised by mucocutaneous melanin pigmentation, gastrointestinal hamartomatous polyposis, and an increased risk for the development of various neoplasms.^1,2 Malignancies occur both in the gastrointestinal tract and in extraintestinal sites such as the pancreas, the breast, and reproductive organs. The estimated relative cancer risk may be 15 fold higher than in the general population¹ and appears to be particularly high in women (20 fold) because of an increased risk of development of breast cancer and gynaecological malignancies.²

Germline mutations in the STK11/LKB1 gene on 19p13.3 are found in 30–70% of PJS cases, depending on the screening method, with considerable uncharacterised genetic heterogeneity remaining in this syndrome.^3,4 The disease causing gene has been identified by two independent groups.^5,6 Human STK11 encodes a serine/threonine protein kinase that is highly homologous to the mouse protein Lkb1 and the Xenopus kinase XEEK1,^7,8 and is expressed . . . [Full text of this article]

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