Genetic Counseling and Testing for Colorectal
Cancer in Young Adults: Mini-Review
Volume 1 - Issue 2
Ethem Unal*, Sema Yuksekdag, Abdullah Yildiz, Ozgul Duzgun, Ahmet Topcu, M Taha Demirpolat, Omer Faruk
Ozkan
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- Department of General Surgery, Umraniye Training and Research Hospital, Health Sciences University, Istanbul, Turkey
*Corresponding author:
Ethem Unal, MD, Associate Professor of Surgery, Tavukcuyolu Caddesi, Umraniye, Istanbul, Turkey
Received: March 12, 2018; Published: March 15, 2018
DOI: 10.32474/PRJFGS.2018.01.000109
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Abstract
Colorectal cancer (CRC) has one of the largest proportions of familial cases. Two to 5% of all colon cancers arise in the setting of
inherited syndromes, including Lynch syndrome (hereditary nonpolyposis colorectal cancer [HNPCC]), familial adenomatous polyposis
(FAP), attenuated FAP, MUTYH-associated polyposis (MAP), and certain hamartomatous polyposis conditions like Peutz-Jeghers
syndrome (PJS) and juvenile polyposis syndrome (JPS). All of these conditions are inherited, autosomal dominant disorders, except
MAP, which is autosomal recessive [1]. Although clinical similarities do exist, each has different cancer risks, characteristic clinical
features, and separate genetical etiologies. In addition to these syndromes, up to 30 % of colon cancers exhibit increased familial risk,
likely related to inheritance. A number of less penetrant, but possibly more frequent susceptibility genes have been identified for this
level of inheritance. Determination of predisposing genes allows for accurate risk assessment and more precise screening approaches.
Examples include common polymorphisms in genes that regulate metabolism or genes that are regulated by environmental or other
genetic factors.
Abbreviations: CRC: Colorectal cancer; HNPCC: Nonpolyposis Colorectal Cancer; FAP: Familial Adenomatous Polyposis; MAP: MUTYHAssociated
Polyposis; JPS: Juvenile Polyposis Syndrome.
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