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September 26 (UPI) – According to a new study, nearly 25% of genetic variants associated with cancer, previously classified as "uncertain significance," are then reclassified and are often downgraded to benign.
Researchers at the University of Texas Southwestern Medical Center examined genetic test results from 1.45 million individuals collected between 2006 and 2018, noting frequent variations. The results were published Tuesday in the Journal of the American Medical Association.
The variants were classified as benign, probably benign, variant of uncertain significance, probably pathogenic or pathogenic.
In their study, researchers strongly encourage test labs to periodically review their records and alert doctors if the genes are reclassified.
"If a variant is reclassified as a pathogen, then it's important for the patient," said Dr. Theo Ross, professor of internal medicine at UT Southwestern, in a press release. "For example, if they have a broken Lynch Syndrome gene, they need different care from their doctor, for example a colonoscopy earlier or more often – sometimes as often as every year." may want to undergo prophylactic surgery or add MRI scans to their mammography screening program. "
The researchers noted that a reclassification of "variant of uncertain significance" to "benign" can provide patients with peace of mind.
"Physicians need to be aware of the speed with which knowledge of genetic variants is progressing and reclassifications are common," said Ross. "Laboratories need to regularly review information on genetic variants and alert doctors to changes, and doctors and family members need to be aware of reclassifications made by their doctors to make informed choices."
The researchers studied the hereditary cancer genes collected over a 10-year period by the Myriad Genetics laboratory, as well as the associated clinical data from UT Southwestern's cancer genetics program. Of the 1.67 million initial reports, 59,995 modified genetic reports were published.
Overall, 24.9% of the "uncertain value variant" classifications have been reclassified. Of the variants ranked for the first time as significant, 7.7% were reclassified – 91.2% were downgraded to less severe classifications and 8.7% were classified in more severe classifications.
The typical gene contains about 27,000 base pairs – AT, G-C – and some genes contain up to 2 million.
Due to the large number of base pairs in each gene, the potential variations are numerous.
"We are getting new data all the time," Ross said. "We can identify new families that have hereditary susceptibility to cancer and learn something from their DNA." Labs can determine the atomic structure of the protein product of the gene with variation and see an abnormal form or find cells with the variant gene do not behave as expected. "
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