No evidence for germline mutations of the LKB1/STK11 gene in familial pancreatic carcinoma.
Familial pancreatic cancer (FPC) (approximately 3% of all cases) has not been linked to defects in any specific gene. Germline inactivation of the gene LKB1/STK11 have been shown to cause Peutz-Jeghers syndrome (PJS) associated with a approximately 100-fold higher risk for the development of pancreatic cancer. We have analysed 39 index patients from European FPC families for mutations of LKB1/STK11 by sequencing of their DNA. No germline mutation was found within the complete coding region. Therefore, our results indicate that LKB1/STK11 is not altered in the germline of patients with hereditary pancreatic cancer.
Grützmann
Robert
R
Department of Visceral, Thoracic and Vascular Surgery, University Hospital Carl Gustav Carus, Technical University of Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.
McFaul
Christopher
C
Bartsch
Detlef K
DK
Sina-Frey
Mercedes
M
Rieder
Harald
H
Koch
Rainer
R
McCarthy
Emma
E
Greenhalf
William
W
Neoptolemos
John P
JP
Saeger
Hans Detlev
HD
Pilarsky
Christian
C
D000091162:AMP-Activated Protein Kinase Kinases; D000328:Adult; D000368:Aged; D002277:Carcinoma / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D020022:Genetic Predisposition to Disease; D018095:Germ-Line Mutation; D006801:Humans; D008297:Male; D008875:Middle Aged; D010190:Pancreatic Neoplasms / Q000235:genetics*; D010375:Pedigree; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases