Hamartomatous Polyposis Syndromes: Molecular Genetics, Neoplastic Risk, and Surveillance Recommendations
Annals of Surgical OncologyPublished 1 May 2001
Debrah A. Wirtzfeld, Nicholas J. Petrelli, Miguel A. Rodrı́guez-Bigas
Citations159
SJR quartileQ1
SJR score1.15
SNIP1.09
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TL;DR
Genetic alterations underlying hamartomatous polyposis syndromes are diverse and may result from either germ-line mutations in the stroma (JPS) or as a direct result of functional deletion of tumor suppressor genes (PJS).
Abstract
Genetic alterations underlying hamartomatous polyposis syndromes are diverse. Carcinogenesis may result from either germ-line mutations in the stroma (JPS) or as a direct result of functional deletion of tumor suppressor genes (PJS). Diagnosis depends on clinical presentation and patterns of inheritance within families. Suggested surveillance guidelines for the proband and first-degree relatives are outlined.
Keywords
MedicineBiochemistry, Genetics and Molecular Biology
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