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Study Identifies 40 New Genetic Variants

Published on 10 December 2018  | Download | back to previous


This is an image from this news item. (click to view the video)Collaboration involved researchers from more than 130 institutions globally.

December 3, 2018

The most comprehensive genomewide association study, or GWAS, of colorectal cancer risk to date has discovered 40 new genetic variants and validated 55 previously identified variants that signal an increased risk of colon cancer.

The study, published today in Nature Genetics, also has identified the first rare protective variant for instances of sporadic colorectal cancer, i.e., those not associated with a known familial risk syndrome, and which account for the vast majority of colorectal cancer cases.

Genetic variants occur from differences in our DNA. Most variants are believed to be benign, some are known to be associated with various diseases, and the significance of many others is unknown. While individual genetic variants have little impact on disease risk, several combined variants can become clinically relevant, and this could have an impact on future personalized screening recommendations.

Together, the findings are a significant step toward creating personalized screening strategies and better informing drug development for colorectal cancer. The study identified several loci, the physical location of the gene on a chromosome, near proposed drug targets and genes in pathways not previously known to be causally linked to colorectal cancer.

“A study of this magnitude was possible only through collaboration with our partners from institutions around the world,” said Ulrike “Riki” Peters, PhD, MPH, associate director of the Public Health Sciences Division at the Fred Hutchinson Cancer Research Center, the institution which led the study. “Understanding the genetic architecture of colorectal cancer will revolutionize how we assess risk and treatment for this disease, which is the second most deadly cancer in the United States.”

In Pursuit of New Colorectal Cancer Treatment Targets

In 2009, Dr. Peters initiated and has since led the Genetics and Epidemiology of Colorectal Cancer Consortium, the world’s largest molecular genetic consortium for colorectal cancer. Using GWAS results to inform cancer drug development, the authors believe, could improve the drug-development success rate and even lead to chemoprevention drugs for high-risk individuals.

“There’s great potential in using GWAS results to inform target discovery for anticancer drugs. For diseases like type 2 diabetes and heart disease, the GWAS approach drives the discovery of new biology and potential drug targets,” explained Jeroen Huyghe, PhD, who co-led the study’s statistical genetic analysis and is a staff scientist at Fred Hutch.

“To date, the search for new targets for cancer therapy has been limited to focusing primarily on the molecular characteristics of cancer cells. We think there is a huge opportunity in using the GWAS approach to inform drug development for colorectal cancer,” says Huyghe...

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