On April 15, 2021 Invitae Corporation (NYSE: NVTA), a leading medical genetics company, reported research showing one in six people with colorectal cancer harbor genetic changes that are known to substantially increase the risk for cancer, especially in patients who were younger when diagnosed (Press release, Invitae, APR 15, 2021, View Source [SID1234578085]). The findings are the latest from a landmark study of genetic testing across many solid tumor cancers and were presented at the 2021 American College of Medical Genetics and Genomics (ACMG) Annual Clinical Genetics Meeting.

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Invitae’s (NVTA) mission is to bring comprehensive genetic information into mainstream medical practice to improve the quality of healthcare for billions of people. www.invitae.com (PRNewsFoto/Invitae Corporation)

"Colorectal cancer is one of the most common types of cancer. Recently we’ve seen an unfortunate increase in incidence among people younger than 50 years old. Improving our understanding of who is at risk and implementing appropriate screening strategies is essential to ensuring these cancers are caught and treated earlier when outcomes are typically better," said Robert Nussbaum, M.D., chief medical officer of Invitae. "Access to information about inherited risk factors is also important after diagnosis, not only for the patients themselves in whom a change in treatment was made in more than 10 percent of patients based on genetic test results, but also in alerting other family members of the need to be tested to see if they are also at increased risk and need more intensive surveillance to catch cancer early and prevent more serious disease."

The study evaluated the utility of universal multigene panel testing and found the use of multigene panel testing in colorectal cancer was associated with an increased detection of heritable mutations over guideline-based testing. In the study, 361 colorectal cancer patients received germline genetic testing using a panel that included more than 80 genes linked to increased cancer risk. Cancer-linked genetic changes were found in 15.5% (n=56) of patients predominantly in moderate and high penetrance cancer susceptibility genes such as APC, BRCA2 and TP53. The median age of patients in the study was 57 years, 43.5% were female, 82% were white and 38.2% had stage IV disease.

Younger age at diagnosis was associated with a higher likelihood of finding genetic changes linked to increased cancer susceptibility. Research from the American Cancer Society has shown rates have been increasing since the mid-1980s in adults ages 20-39 years and since the mid-1990s in adults ages 40-54 years, with younger age groups experiencing the steepest increase.