PMID- 10208439
OWN - NLM
STAT- MEDLINE
DCOM- 19990601
LR  - 20211203
IS  - 0950-9232 (Print)
IS  - 0950-9232 (Linking)
VI  - 18
IP  - 9
DP  - 1999 Mar 4
TI  - Somatic mutation of the Peutz-Jeghers syndrome gene, LKB1/STK11, in malignant
      melanoma.
PG  - 1777-80
AB  - 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.
FAU - Guldberg, P
AU  - Guldberg P
AD  - Department of Tumour Cell Biology, Institute of Cancer Biology, Danish Cancer
      Society, Copenhagen.
FAU - thor Straten, P
AU  - thor Straten P
FAU - Ahrenkiel, V
AU  - Ahrenkiel V
FAU - Seremet, T
AU  - Seremet T
FAU - Kirkin, A F
AU  - Kirkin AF
FAU - Zeuthen, J
AU  - Zeuthen J
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Oncogene
JT  - Oncogene
JID - 8711562
RN  - EC 2.7.11.1 (Protein Serine-Threonine Kinases)
RN  - EC 2.7.11.1 (STK11 protein, human)
RN  - EC 2.7.11.3 (AMP-Activated Protein Kinase Kinases)
SB  - IM
MH  - AMP-Activated Protein Kinase Kinases
MH  - Humans
MH  - Melanoma
MH  - *Mutation
MH  - Peutz-Jeghers Syndrome/*enzymology/*genetics
MH  - Protein Serine-Threonine Kinases/*genetics
MH  - Tumor Cells, Cultured
EDAT- 1999/04/20 00:00
MHDA- 1999/04/20 00:01
CRDT- 1999/04/20 00:00
PHST- 1999/04/20 00:00 [pubmed]
PHST- 1999/04/20 00:01 [medline]
PHST- 1999/04/20 00:00 [entrez]
AID - 10.1038/sj.onc.1202486 [doi]
PST - ppublish
SO  - Oncogene. 1999 Mar 4;18(9):1777-80. doi: 10.1038/sj.onc.1202486.