Peutz-Jeghers syndrome: genetic screening.
Peutz-Jeghers syndrome is an autosomal dominant condition leading to gastrointestinal polyps which often causes bowel obstruction. This syndrome also predisposes to gastrointestinal, pancreatic, breast, uterine and other malignancies. Prognosis is likely to be improved by the early commencement of appropriate surveillance programs. Diagnostic and predictive genetic testing is now possible in many families due to identification of causative mutations in the serine/threonine kinase (STK)-11 (also known as the LKB1) gene. Such testing has now entered routine clinical practice and will allow early recognition of the condition in young, at-risk family members.
Leggett
Barbara A
BA
Royal Brisbane Hospital, Herston 4029, Australia. barbara_leggett@health.qld.gov.au
Young
Joanne P
JP
Barker
Melissa
M
D000091162:AMP-Activated Protein Kinase Kinases; D005770:Gastrointestinal Neoplasms / Q000235:genetics; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D017346:Protein Serine-Threonine Kinases / Q000235:genetics; D013577:Syndrome
D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases