Study finds 1 in 6 “Under 50” Patients Carry Genetic Mutation


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An article released December 15, 2016 by the Journal of the American Medical Association (JAMA) Oncology presented results from a recent study on early-onset colorectal cancer (CRC occurring in those under age 50 years old). The article titled Prevalence and Spectrum of Germline Cancer Susceptibility Gene Mutations Among Patients with Early-Onset Colorectal Cancer researched genetic mutations in younger colorectal cancer patients.

About the Study

A group of 450 colorectal cancer patients from the Ohio Colorectal Cancer Prevention Initiative (OCCPI) were included in the analysis, all were younger than 50 years of age. The objective of this study was to determine the frequency of occurrence and variability among the germline cancer (inherited or hereditary cancer) mutations within the under 50 population - those with early-onset colorectal cancer. Germline cancer mutations, also called hereditary mutations, are gene changes found within every cell of the body, including reproductive cells, thus passed down from generation to generation. Of the 450 patients included in the study, 75 gene mutations were found in 72 patients. In other words, 16% (1 out of every 6) of CRC patients diagnosed under the age of 50 carried an inherited susceptibility. The findings have made researchers conclude that due to this high percentage, genetic counseling and multigene panel testing should be considered for ALL patients with early-onset CRC. Heather Hampel, principal investigator, professor of Internal Medicine from the Ohio State University Comprehensive Cancer Center and Medical Advisory Board member remarked,
“With that high of a prevalence, we think all early-onset colorectal cancer patients should be referred to cancer genetics for consideration of genetic testing using a broad multi-gene panel.”

Stirrings and Frustrations Among the Under 50 Patients

Frustrations are stirring within many patients and caregivers who’ve faced colorectal cancer under age 50 as to why the screening guidelines cannot be changed to reflect a younger screening age; especially with more data demonstrating that this is not random occurrence. The incidence among those ages 20-49 has seen an increase in CRC diagnosis, as published last year in JAMA Surgery. Early-onset colorectal cancer was not addressed in the June 2016 US Preventive Services Task Force (USPSTF) guidelines evidence report released June 2016, but it was not disregarded. Fight CRC made recommendations to the USPSTF to further examine the under 50 phenomenon. The evidence report was commissioned simultaneously with the microsimulation decision modeling study from The Cancer Intervention and Surveillance Modeling Network (CISNET) which identified gaps in the evidence for decisions around the ages to start and stop screening.

What Lowering the Screening Age Would Take

Lowering the screening age for colorectal cancer would require going through the proper research channels, understanding the screening barriers and getting a pulse for all of the research around screening and early-onset CRC. Studies like OCCPI are a benchmark for future research. This research, and future studies, would help link the evidence from research to policy to fill these gaps. Then, the the USPSTF would be provided with valid data/evidence, in a collaborative effort with policy experts, and their decisions would be more momentous. There is still a lot to be done and a long way to go. This study is a step forward. Articles are starting to emerge that will lead to more funded research in this area. As you can see through recent Fight CRC blogs, published by Dr. Harvey Murff, Andi Dwyer and Keavy McAbee, Fight CRC is committed to this under 50 phenomena. Fight CRC will ensure the proper research mechanisms are carried out and will be dedicated to fostering and supporting research.

What Can You Do?

As a patient community, there is still much you can do. There is a tremendous opportunity to save lives through early detection.
  • Be your own health advocate.
  • Know your family history.
  • Report any, and all, symptoms to your healthcare provider.
  • If you experience any signs or symptoms, talk to your doctor.
  • If a doctor recommends you get screened, get screened.
  • Finally, be sure that you join the fight and sign up to advocate with Fight CRC. We need your voice to join ours to drive this link between research and policy!
Source: 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

2 thoughts on “Study finds 1 in 6 “Under 50” Patients Carry Genetic Mutation

  1. Hi, Alecia! Thank you for joining us in the fight and for sharing your story. Unfortunately, insurance coverage can be tricky when it comes to genetic counseling and testing, and I’m sorry it’s a barrier you’re facing. It’s important to us that patients receive quality care and have access to resources they need. As part of our Call-on Congress event in March, we will have a panel dedicated to early onset CRC, and one of our speakers is a genetic counselor. We will be streaming the panel on Facebook Live and I strongly encourage you to watch! We will include the virtual audience in our Q&A, so you’ll be able to ask questions you may have. Make sure you’re signed up as an advocate to receive more details.

  2. I was diagnosed at age 39 with stage IV CRC. I have zero family history of cancer. I’m going into see a genetic counselor next week and she said that Medicare will not pay for genetic counseling. Can changing this Medicare policy be included in the advocacy efforts? I worry for my sister and my two young children. Thanks!

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