Brief Article
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World J Gastroenterol. Jan 7, 2014; 20(1): 204-213
Published online Jan 7, 2014. doi: 10.3748/wjg.v20.i1.204
Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles
Sébastien Küry, Céline Garrec, Fabrice Airaud, Flora Breheret, Virginie Guibert, Cécile Frenard, Shuo Jiao, Dominique Bonneau, Pascaline Berthet, Céline Bossard, Olivier Ingster, Estelle Cauchin, Stéphane Bezieau
Sébastien Küry, Céline Garrec, Fabrice Airaud, Flora Breheret, Virginie Guibert, Cécile Frenard, Stéphane Bezieau, CHU Nantes, Service de Génétique Médicale, 44093 Nantes CEDEX 1, France
Shuo Jiao, Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, WA 98109, United States
Dominique Bonneau, Olivier Ingster, CHU Angers, Service de Génétique Médicale, 4 rue Larrey, 49933 Angers, France
Pascaline Berthet, Centre de Lutte contre le Cancer François Baclesse, 3 avenue du Général Harris, 14076 Caen Cedex 5, France
Céline Bossard, Stéphane Bezieau, Université de Nantes, Faculté de Médecine de Nantes, EA 4273 Nantes, France
Estelle Cauchin, CHU Nantes, Institut des Maladies de l’Appareil Digestif et Service d’Hépato-Gastroentérologie, 44093 Nantes Cedex 1, France
Author contributions: Küry S and Garrec C contributed equally to this work; Küry S and Garrec C conceived and designed the study, analyzed and interpreted data, and drafted the manuscript; Airaud F, Bréheret F, Guibert V and Frénard C ensured technical support, acquisition and analysis of data; Jiao S drafted the manuscript; Bonneau D, Berthet P, Ingster O and Cauchin E brought their clinical expertise and collected samples; Bossard C brought her pathology expertise; Bézieau S conceived and designed the study, analyzed and interpreted data, drafted the manuscript, and supervised the study.
Correspondence to: Sébastien Küry, DVM, PhD, CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes CEDEX 1, France. sebastien.kury@chu-nantes.fr
Telephone: +33-24-0084020 Fax: +33-24-0084026
Received: April 11, 2013
Revised: August 17, 2013
Accepted: September 15, 2013
Published online: January 7, 2014
Processing time: 284 Days and 16.8 Hours
Core Tip

Core tip:UNC5C was recently described as a new gene potentially predisposing to familial forms of colorectal cancer (CRC). In order to evaluate the risk of CRC associated with the variants of UNC5C exon 11 suggested to underlie this predisposition, we screened both patients with familial CRC forms of hitherto unknown etiology, and patients with sporadic CRCs. Overall, we confirm that UNC5C mutations are very rare in familial and sporadic forms of CRC. Further identifications of families with UNC5C mutations are needed to justify routine UNC5C testing in patients with CRC or gastric cancer for potential genetic counseling purposes.