Toward Application of Polygenic Risk Scores to Both Enhance and Deintensify Breast Cancer Screening
Menée en Finlande à partir des données du projet FinnGen et du registre de dépistage de masse des cancers du sein, cette étude évalue, par rapport à la recherche de variants pathogènes ou d'antécédents familiaux, la performance d'un score de risque polygénique pour stratifier le risque de cancer du sein
Breast cancer is the most common cancer in individuals assigned female sex at birth (here, referred to as women), and factors such as family history, reproductive history, self-identified race and genetic ancestry, and lifestyle factors can increase and decrease an individual woman's risk.1 The National Comprehensive Cancer Network which provides guidelines for breast cancer screening programs in the United States defines average risk as approximately 12% lifetime risk and increased risk as a lifetime risk of ≥20%.1 Average risk women begin yearly mammography at age 40 years (of note, the US Preventative Services Task Force recommendations differ); high-risk women undergo enhanced screening with yearly mammography and breast MRI, in addition to consideration of risk reducing medications and surgery depending on the risk. Although high-risk radiographic screening decreases mortality in women with BRCA1 variants,2 the survival benefit of this strategy in other high-risk women is unknown. Furthermore, no recommendations exist to deintensify screening for women at lower-than-average risk to avoid overscreening.
Journal of Clinical Oncology , éditorial en libre accès, 2023