Mutation analysis of the STK11/LKB1 gene and clinical characteristics of an Australian series of Peutz-Jeghers syndrome patients.
Peutz-Jeghers syndrome (PJS) is a rare cancer predisposition, which is characterized by the presence of hamartomatous polyposis and mucocutaneous pigmentation. A significant proportion of both familial and sporadic forms of this disorder are associated with mutations in the STK11 (serine/threonine kinase 11)/LKB1 gene. In this report we present a series of Australian PJS cases, which suggest that mutations in the STK11 gene do not account for many families or patients without a family history. The most likely explanation is either the presence of another susceptibility gene or genetic mosaicism in the non-familial patients.
Scott
R J
RJ
Discipline of Medical Genetics, Faculty of Health, University of Newcastle, NSW, Australia. rscott@doh.health.nsw.gov.au
Crooks
R
R
Meldrum
C J
CJ
Thomas
L
L
Smith
C J A
CJ
Mowat
D
D
McPhillips
M
M
Spigelman
A D
AD
D000091162:AMP-Activated Protein Kinase Kinases; D001315:Australia; D002874:Chromosome Mapping; D004252:DNA Mutational Analysis; D005260:Female; D018740:Genetic Heterogeneity; D006801:Humans; D008297:Male; D009154:Mutation; D010580:Peutz-Jeghers Syndrome / Q000235:genetics*; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D017421:Sequence Analysis
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases