Clinical applicability of the Polygenic Risk Score for breast cancer risk prediction in familial cases

A 313-variant-based polygenic risk score (PRS) is shown to stratify women from breast cancer families into different clinically relevant risk categories. Adding this PRS to family history-based risk prediction would have changed screening advise for 1 out of 3 women diagnosed with breast cancer (BC) at a young age or with a positive family history. For women with a pathogenic variant in ATM or CHEK2, advise would have changed for 1 out of 4 and 1 out of 5 women, respectively. Our study supports the implementation of comprehensive risk prediction in clinical management of familial breast cancer as performed in clinical genetic services. (By Dr. Inge M M Lakeman, https://jmg.bmj.com/content/early/2022/09/22/jmg-2022-108502 )

Drs. Inge M M Lakeman, Christi J van Asperen, and Peter Devilee

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