Outdated BRCA tests may have missed cancer-linked mutations in many women

A recent investigation revealed that 17.3% of women who were told they lacked BRCA mutations before 2013 actually possessed a dangerous variant when re-examined an average of five years later. Early testing, dominated by Myriad Genetics, targeted only BRCA1 and BRCA2 and excluded many other risk genes. The 2013 Supreme Court ruling that human genes cannot be patented opened the market to multi-gene panels, reducing prices dramatically and expanding testing to both sexes.

Since then, at least 11 additional breast-cancer genes have been identified, with dozens more under study. Researchers warn that many individuals remain unaware of their true risk and recommend retesting, particularly for those with first-degree relatives affected by breast cancer. Updated genetic information can influence treatment choices, such as opting for mastectomy over lumpectomy or selecting targeted medications.