ICARE Newsletter Spring 2022 

 Polygenic Risk Scores and Inherited Breast Cancer Genes: BRCA1/2, PALB2, CHEK2, and ATM  

Breast MRIs are advised in women with >20% lifetime risk of breast cancer. A new study showed that breast cancer risks in BRCA1, BRCA2 and PALB2 carriers remained higher than 20%, regardless of whether polygenic risk scores (PRS) were done, suggesting this is of limited help in refining screening. In contrast, PRS downgraded breast cancer risks to <20% in about 1/3 of CHEK2 carriers and almost half of ATM carriers, meaning screening may not be needed. This information may be used in the future to prevent over-screening and refine cancer risk management.

Gao et al. J Clin Oncol. 2021 Aug. PMID: 34101481. Social media post February 8 th , 2022. Available at: https://tinyurl.com/post20822.

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