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.
Department of Visceral, Thoracic and Vascular Surgery, University Hospital Carl Gustav Carus, Technical University of Dresden, Fetscherstrasse 74, 01307 Dresden, Germany.
Robert
R
Grützmann
Christopher
C
McFaul
Detlef K
DK
Bartsch
Mercedes
M
Sina-Frey
Harald
H
Rieder
Rainer
R
Koch
Emma
E
McCarthy
William
W
Greenhalf
John P
JP
Neoptolemos
Hans Detlev
HD
Saeger
Christian
C
Pilarsky
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