Less common colorectal cancer predisposition syndromes.
A variety of syndromes confer increased risk for intestinal polyp development, outside the more commonly occurring syndromes. Each of these uncommon syndromes predispose to pathognomonic histologies that are uncommonly observed. Accurate diagnosis of these syndromes is contingent on higher-level pathology review, evaluation of signs and symptoms beyond sole consideration of the polyps, and collection of a detailed family history. When a genetic mutation can be identified in the proband, the management of intestinal and extra-intestinal cancer screening can be more appropriately tailored.
McGarrity
Thomas J
TJ
Department of Medicine, Penn State Hershey Medical Center, Hershey, PA 17033-0850, USA. tmcgarrity@hmc.psu.edu
Amos
Christopher
C
D015179:Colorectal Neoplasms / Q000235:genetics*; D020022:Genetic Predisposition to Disease; D006801:Humans; D013577:Syndrome