Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant melanoma View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

1999-03

AUTHORS

Per Guldberg, Per thor Straten, Vibeke Ahrenkiel, Tina Seremet, Alexei F Kirkin, Jesper Zeuthen

ABSTRACT

Mutations in LKB1/STK11, a gene mapping to chromosome 19p13.3 and encoding a widely expressed serine/threonine kinase, were recently identified as the cause of Peutz-Jeghers syndrome. Despite the hamartomatous polyps and increased cancer risk associated with this syndrome, somatic alterations in LKB1/STK11 have not been identified in human tumours. Prompted by another feature of the syndrome, lentigines of the lips and oral mucosa, we evaluated the status of LKB1/STK11 expression, deletion, and mutation in cell lines and tumour samples from 35 patients with sporadic malignant melanoma. Two somatic mutations were identified, a nonsense mutation (Glu170Stop) causing exon skipping and intron retention, and a missense mutation (Asp194Tyr) affecting an invariant residue in the catalytic subunit of LKB1/STK11. Our data suggest that LKB1/STK11 may contribute to tumorigenesis in a small fraction of malignant melanomas. More... »

PAGES

1777

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/sj.onc.1202486

DOI

http://dx.doi.org/10.1038/sj.onc.1202486

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1016492922

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/10208439


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