Abstract

Calculating breast cancer (BC) risks is becoming increasingly accurate and important in the care of healthy women with a cancer family history. Clinical recommendations are commonly based on cancer family history and germline mutation status. More recently, risk-modifying single- nucleotide polymorphisms (SNPs) which can be used to calculate polygenic risk score (PRS) as well as non-genetic risk factors (NGRF) have been incorporated into established risk prediction tools. We evaluated the impact of personalized BC risk calculation incorporating PRS and NGRF on clinical recommendations for intensified breast surveillance (IBS), based on the 10-year BC risk with a threshold of ≥5% for IBS indication (German Guideline) and a lifetime risk of ≥20 % (French/Dutch), respectively.

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