Cancer-Related Gene Variations Frequently Reclassified

Share this content:
Cancer-Related Gene Variations Frequently Reclassified
Cancer-Related Gene Variations Frequently Reclassified

TUESDAY, Sept. 25, 2018 (HealthDay News) -- Among individuals undergoing hereditary cancer testing, some variants of uncertain significance are reclassified, with almost one-quarter of those variants reclassified at a single commercial laboratory, according to a study published in the Sept. 25 issue of the Journal of the American Medical Association.

Jacqueline Mersch, from the University of Texas Southwestern Medical Center in Dallas, and colleagues conducted a retrospective cohort study of 1.45 million individuals who had genetic testing from 2006 through 2016 at a single commercial laboratory.

The researchers found that 56.6 percent of the patients had a personal history of cancer. A total of 1.67 million initial tests were reported; due to variant misclassification, 59,955 amended reports were issued. Of the unique variants, 6.4 percent were reclassified. Among unique variants initially classified as pathogenic or likely pathogenic or those classified as benign or likely benign, reclassification to a different clinical classification was rare (0.7 and 0.2 percent, respectively). Overall, 7.7 percent of unique variants of uncertain significance were reclassified, with 91.2 and 8.7 percent downgraded to benign or likely benign and upgraded to pathogenic or likely pathogenic, respectively (median time to amended report, 1.17 and 1.86 years, respectively). Overall, 24.9 percent of all reported variants of uncertain significance were reclassified because most variants were seen in more than one individual.

"Further research is needed to assess generalizability of the findings for other laboratories," the authors write.

Several authors disclosed financial ties to Myriad Genetic Laboratories.

Abstract/Full Text (subscription or payment may be required)
Editorial 1 (subscription or payment may be required)
Editorial 2 (subscription or payment may be required)

Share this content:

is free, fast, and customized just for you!




Already a member?

Sign In Now »

Drug Lookup

Browse drugs by: BrandGenericDisease

More in Home

Congo Ebola Outbreak Now Second Worst in History

Congo Ebola Outbreak Now Second Worst in History

The worst Ebola outbreak occurred in West Africa in 2014 to 2016

FDA to Resume Inspections of Riskier Foods

FDA to Resume Inspections of Riskier Foods

Agency is bringing back about 150 unpaid employees for the inspections of riskier foods

Breakdown of Blood-Brain Barrier May Drive Dementia

Breakdown of Blood-Brain Barrier May Drive Dementia

Leaky brain capillaries tied to cognitive dysfunction, independent of protein markers for dementia

is free, fast, and customized just for you!




Already a member?

Sign In Now »