Published online Aug 14, 2015. doi: 10.3748/wjg.v21.i30.8985
Peer-review started: February 28, 2015
First decision: April 27, 2015
Revised: May 26, 2015
Accepted: July 15, 2015
Article in press: July 15, 2015
Published online: August 14, 2015
Although the genetic bases of most hereditary cancer syndromes are known, and genetic tests are available for them, the incidence of the most rare of these syndromes is likely underestimated, partially because the clinical expression is neither fully understood nor easily diagnosed due to the variable and complex expressivity. The clinical features of a small pool of rare cancer syndromes include gastroenterological signs, though not necessarily tumors, that could require the intervention of a gastroenterologist during any of the phases of the clinical management. Herein we will attempt to spread the knowledge on these rare syndromes by summarizing the phenotype and genetic basis, and revising the peculiar gastroenterological signs whose underlying role in these rare hereditary cancer syndromes is often neglected. Close collaboration between geneticists and gastroenterologists could facilitate both the early identification of patients or relatives at-risk and the planning of multidisciplinary and tailored management of these subjects.
Core tip: Close collaboration between geneticists and gastroenterologists can facilitate early identification of patients or relatives at-risk and the planning of multidisciplinary and tailored management. This editorial summarizes the diagnostic criteria, cancer associations and genetic bases of very rare cancer syndromes whose clinical features include gastroenterological signs.