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Published on: July 28, 2010
Adenomatous Polyposis Coli Gene Polyposis-Related Syndromes
Jennifer K Maratt1,2,3, Anneleise Frie4, Jennifer M Weiss4,5
1Division of Gastroenterology and Hepatology, Indiana University School of Medicine, Indianapolis, Indiana, USA.
Abstract:
Gastrointestinal cancers, particularly those of the stomach and colorectum, are among the leading causes of cancer-related morbidity and mortality in the United States and worldwide. The adenomatous polyposis coli ( APC ) gene functions as a tumor suppressor gene whose loss of function plays a critical role in gastrointestinal cancer development. Pathogenic/likely pathogenic variants of the APC gene are associated with intestinal (gastric, small bowel, and colorectal neoplasia) and extra-intestinal manifestations. In this narrative review, we discuss the epidemiology, diagnosis, and management of APC gene-related polyposis syndromes. We also review the variation in genotype-phenotype presentations and discuss practical aspects of caring for individuals affected by these syndromes with an emphasis on multidisciplinary care, family planning, and transitions of care.
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