In a recent study based on ICARE participants, we compared cancer risk management between those with CHEK2 1100delC (which leads to moderate breast cancer risk, generally more than 20% lifetime risk) versus I157T (which is a low penetrance mutation, with breast cancer risks of less than 20%) 👩🔬
Of the 150 CHEK2 carriers, there were no differences in rates of breast MRI, risk-reducing mastectomy, and risk-reducing salpingo-oophorectomy across the two variants. These findings suggest the possible over-screening of CHEK2 I157T carriers with breast MRI and overuse of risk-reducing surgeries among CHEK2 carriers. 🔬📚
Learn more by reading the full article at: https://bit.ly/4cU11T2
Reference: Garmendia et al. Genes 2024, 15(7), 881; https://doi.org/10.3390/genes15070881.