Article
Truncating mutations in Peutz-Jeghers syndrome are associated with more polyps, surgical interventions and cancers.
International journal of colorectal disease - 1 Jan 2010
Salloch Heidi, Reinacher-Schick Anke, Schulmann Karsten, Pox Christian, Willert Jörg, Tannapfel Andrea, Heringlake Stefan, Goecke Timm O, Aretz Stefan, Stemmler Susanne, Schmiegel Wolff
Abstract excerpt
BACKGROUND AND GOALS: Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant polyposis syndrome caused by STK11 germline mutations. PJS is associated with an increased risk of cancer. In our cohort, clinical and phenotypic parameters were correlated with genotypic findings and patients were prospectively followed by surveillance. STUDY: Thirty-one patients treated between 2000 and 2006, were evaluated. STK11...
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