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Expanded Genetic Screening Doubles Genetic Explanation for Hereditary Breast Cancer

Image: iStock/Rasi Bhadramani

A comprehensive Swedish study has revealed that the inclusion of all genes associated with elevated risks of hereditary breast and ovarian cancer in screening tests doubled the proportion of women with genetically confirmed hereditary breast cancer. The research, conducted between 2012 and 2018, analyzed 13 genes linked to increased risk of breast and ovarian cancer in 4,759 individuals. The study demonstrated that the genetic explanation for breast cancer doubled using the inclusive screening technique, with over 27% of women with triple-negative breast cancer having detectable genetic abnormalities. The findings have led to changes in the Swedish national guidelines for breast cancer genetic testing, offering broader testing options for patients.