Cancer Susceptibility Genes Common In Early-Onset Colorectal Cancer

MedicalResearch.com Interview with:

Heather Hampel, MS, LGC Associate Director, Division of Human Genetics Associate Director, Biospecimen Research Professor, Internal Medicine Licensed Genetic Counselor The Ohio State University Comprehensive Cancer Center Columbus, OH 43221

Heather Hampel

Heather Hampel, MS, LGC
Associate Director, Division of Human Genetics
Associate Director, Biospecimen Research
Professor, Internal Medicine
Licensed Genetic Counselor
The Ohio State University Comprehensive Cancer Center
Columbus, OH 43221

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: This study was part of the Ohio Colorectal Cancer Prevention Initiative, a statewide study being conducted at 50 hospitals that includes universal tumor screening for Lynch syndrome. For the subset of 450 colorectal cancer patients diagnosed under age 50, we performed multi-gene cancer panel testing regardless of the results of their tumor screening for Lynch syndrome since early age of diagnosis is a red flag that a cancer might be hereditary.

MedicalResearch.com: What should readers take away from your report?

Response: We found that 1 out of every 6 patients with early onset colorectal cancer (diagnosed under age 50) has a mutation in a cancer susceptibility gene. This has important implications for the patients’ future cancer risks and for their family members who may have also inherited the mutation and have increased risks for cancer. Individuals with these gene mutations can benefit from potentially life-saving intensive cancer surveillance and prevention options.

MedicalResearch.com: What recommendations do you have for future research as a result of this study?

Response: We were not able to do the full genetic testing for patients diagnosed at age 50 or older so we do not yet know if we should extend the recommendation to offer a broad cancer genetic testing panel to all colorectal cancer patients or only those diagnosed under age 50.

MedicalResearch.com: Is there anything else you would like to add?

Response: This study was funded entirely by Pelotonia, a grassroots bike tour that funds cancer research at The Ohio State University Comprehensive Cancer Center – Arthur G. James Cancer Hospital and Richard J. Solove Research Institute

MedicalResearch.com: Thank you for your contribution to the MedicalResearch.com community.

Citation:

Pearlman R, Frankel WL, Swanson B, Zhao W, Yilmaz A, Miller K, Bacher J, Bigley C, Nelsen L, Goodfellow PJ, Goldberg RM, Paskett E, Shields PG, Freudenheim JL, Stanich PP, Lattimer I, Arnold M, Liyanarachchi S, Kalady M, Heald B, Greenwood C, Paquette I, Prues M, Draper DJ, Lindeman C, Kuebler JP, Reynolds K, Brell JM, Shaper AA, Mahesh S, Buie N, Weeman K, Shine K, Haut M, Edwards J, Bastola S, Wickham K, Khanduja KS, Zacks R, Pritchard CC, Shirts BH, Jacobson A, Allen B, de la Chapelle A, Hampel H, for the Ohio Colorectal Cancer Prevention Initiative Study Group. Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients With Early-Onset Colorectal Cancer. JAMA Oncol. Published online December 15, 2016. doi:10.1001/jamaoncol.2016.5194

Note: Content is Not intended as medical advice. Please consult your health care provider regarding your specific medical condition and questions.

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