Genetic Testing Use and Expectations in Early Onset Colorectal Cancer
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Genetics in Gastroenterology Practice (B Katona, Section Editor)
Genetic Testing Use and Expectations in Early Onset Colorectal Cancer Swati G. Patel, MD MS1,2,* Clement Richard Boland, MD3 Address 1 University of Colorado Anschutz Medical Center, Rocky Mountain Regional Veterans Affairs Medical Center, Aurora, CO, USA *,2 Division of Gastroenterology & Hepatology, Rocky Mountain Regional Veterans Affairs Medical Center, Aurora, CO, USA Email: [email protected] 3 University of California San Diego School of Medicine, 9500 Gilman Drive, La Jolla, CA, 92093-0956, USA
* Springer Science+Business Media, LLC, part of Springer Nature 2020
This article is part of Topical Collection on Genetics in Gastroenterology Practice Keywords Colorectal cancer I Cancer genetics I Hereditary cancer I Lynch syndrome I Familial cancer I Germline genetic testing Abbreviations CRC Colorectal cancer EOCRC Early-onset colorectal cancer FAP Familial adenomatous polyposis _ _ _ PCR Polymerase chain reaction DNA Deoxyribonucleic acid NCI National Cancer Institute MSS Microsatellite _ _ _ stable HNPCC Hereditary nonpolyposis colorectal cancer MSTF Multi-Society Task Force NCCN National Compre_ _ _ hensive Cancer Network
Abstract Purpose of review A substantial proportion of colorectal cancer (CRC) diagnosed under age 50, or early-onset colorectal cancer (EOCRC), is associated with a hereditary cancer syndrome. It is of utmost importance to identify these patients to customize cancer treatment options, decrease the risk of metachronous cancers, and facilitate testing within the family to identify carriers. The purpose of this paper is to review the evolution of genetic evaluation in patients with EOCRC, review current best practices, and describe areas ripe for future work and research. Recent findings Fourteen to 25% of all EOCRCs are associated with a pathogenic germline variant. These variants are found in genes typically associated with EOCRC, such as Lynch syndrome or biallelic MUTYH, as well as genes that are not necessarily congruent with EOCRC phenotypes such as polyposis syndromes or hereditary breast and ovarian cancer syndromes.
Genetics in Gastroenterology Practice (B Katona, Section Editor) Summary Professional societies now recommend comprehensive multigene panel testing in all patients with EOCRC, regardless of personal history, family history, or tumor characteristics.
Introduction The incidence and mortality associated with early age onset colorectal cancer (EOCRC), or CRC diagnosed in patients under the age of 50, are increasing [1•, 2] and are currently the second leading cause of cancer-related mortality in patients under age 50. If current trends continue, by the year 2030, 10% of all colon cancers and 22% of all rectal cancers in the USA are expected to be diagnosed in patients younger than age 50 years [3]. Although the etiology of the rise of the EOCRC burden is unknown [4, 5], a substantial proportion of cancers diagnosed in young patients is driven by hereditary cancer syndromes caused by pathological ge
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