Bruno W, Fornarini G, Ghiorzo P. Signs and genetics of rare cancer syndromes with gastroenterological features. World J Gastroenterol 2015; 21(30): 8985-8993 [PMID: 26290627 DOI: 10.3748/wjg.v21.i30.8985]
Corresponding Author of This Article
William Bruno, MD, PhD, Genetics of Rare Cancers, Department of Internal Medicine and Medical Specialties, University of Genoa, IRCCS AOU San Martino-IST, V.le Benedetto XV 6, 16132 Genoa, Italy. william.bruno@unige.it
Research Domain of This Article
Genetics & Heredity
Article-Type of This Article
Editorial
Open-Access Policy of This Article
This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
World J Gastroenterol. Aug 14, 2015; 21(30): 8985-8993 Published online Aug 14, 2015. doi: 10.3748/wjg.v21.i30.8985
Signs and genetics of rare cancer syndromes with gastroenterological features
William Bruno, Giuseppe Fornarini, Paola Ghiorzo
William Bruno, Paola Ghiorzo, Genetics of Rare Cancers, Department of Internal Medicine and Medical Specialties, University of Genoa, IRCCS AOU San Martino-IST, 16132 Genoa, Italy
Giuseppe Fornarini, Medical Oncology Unit, IRCCS AOU San Martino-IST, 16132 Genoa, Italy
Author contributions: Bruno W designed and wrote the manuscript; Fornarini G reviewed the associated cancer risk; Ghiorzo P conceptualized, designed and reviewed the manuscript; all authors reviewed the manuscript critically for intellectual content and approved the final version.
Supported by Grants from the Italian Ministry of Health, 5 per 1000, AIRC 15460 and Genoa Atheneum 2014 (to Ghiorzo P).
Conflict-of-interest statement: The authors decalre no conflict of interest.
Open-Access: This article is an open-access article which was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Correspondence to: William Bruno, MD, PhD, Genetics of Rare Cancers, Department of Internal Medicine and Medical Specialties, University of Genoa, IRCCS AOU San Martino-IST, V.le Benedetto XV 6, 16132 Genoa, Italy. william.bruno@unige.it
Telephone: +39-1-3537913 Fax: +39-1-3538887
Received: February 27, 2015 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 Processing time: 170 Days and 15.7 Hours
Abstract
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.
