variants of unknown significance

A case series in partnership with My Gene Counsel to highlight the challenges genetics professionals and oncologists are grappling with as genetic testing is increasingly used in patient care.

The researchers said their findings could help classify BRCA1 variants, particularly one whose impact on cancer risk is currently not clear.

A study of more than 5,000 breast cancer patients found that multi-gene sequencing has rapidly replaced BRCA1/2-only tests, resulting in better pathogenic variant detection but also higher VUS rates.