No evidence of Peutz-Jeghers syndrome gene LKB1 involvement in left-sided colorectal carcinomas.
LKB1 serine/threonine kinase is a gene for Peutz-Jeghers cancer predisposition syndrome. Most studies have detected a low frequency of LKB1 defects in sporadic cancer. A notable exception is a recent report describing frequent, mostly missense type, LKB1 mutations in Korean distal colorectal tumors. To clarify the role of LKB1 in colon cancer, we scrutinized 50 left-sided Korean and Finnish specimens. No somatic mutations were found. The seven Korean somatic missense mutations reported previously were functionally analyzed, and five were found not to alter LKB1 kinase activity. One of these changes was found to be a germ-line polymorphism. LKB1 involvement in distal colorectal cancer is not common.
Launonen
V
V
Department of Medical Genetics, Haartman Institute, University of Helsinki, Finland.
Avizienyte
E
E
Loukola
A
A
Laiho
P
P
Salovaara
R
R
Järvinen
H
H
Mecklin
J P
JP
Oku
A
A
Shimane
M
M
Kim
H C
HC
Kim
J C
JC
Nezu
J
J
Aaltonen
L A
LA
D000091162:AMP-Activated Protein Kinase Kinases; D015179:Colorectal Neoplasms / Q000209:etiology* / Q000235:genetics; D006801:Humans; D020125:Mutation, Missense; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D011494:Protein Kinases / Q000378:metabolism; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
D011494:Protein Kinases; D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases