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World J Gastroenterol. Aug 7, 2014; 20(29): 9828-9849
Published online Aug 7, 2014. doi: 10.3748/wjg.v20.i29.9828
Genetic predisposition to colorectal cancer: Where we stand and future perspectives
Laura Valle
Laura Valle, Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, 08908 Barcelona, Spain
Author contributions: Valle L drafted and revised the manuscript and gave final approval of the version to be published.
Supported by The Spanish Ministry of the Economy (State Secretariat for Research, Development and Innovation), grant SAF2012-38885 and Ramón y Cajal contract; L’Oréal-UNESCO “For Women in Science”; and the Scientific Foundation Asociación Española Contra el Cáncer
Correspondence to: Laura Valle, PhD, Ramón y Cajal Researcher, Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Av. Gran Via 199-203, Hospitalet de Llobregat, 08908 Barcelona, Spain. lvalle@iconcologia.net
Telephone: +34-93-2607145 Fax: +34-93-2607466
Received: October 16, 2013
Revised: February 10, 2014
Accepted: April 2, 2014
Published online: August 7, 2014
Processing time: 294 Days and 17.1 Hours
Core Tip

Core tip: The risk of developing colorectal cancer (CRC) can have genetic influences, especially when there is a family history of the disease. Much of this genetic predisposition to develop cancer is already known, including high-penetrance genes, i.e., those responsible for hereditary cases, and low-penetrance alleles, which are responsible for both sporadic and familial cases. However, despite recent developments in gene identification techniques, the genetic causes of many hereditary cases remain unknown. This review details the hereditary CRC syndromes and their genetic causes, the roles of low- and moderate-risk genetic factors in familial cases and the state-of-the-art in the identification of new causal genes.