BACKGROUND:Women with PTEN Hamartoma Tumor Syndrome (PHTS) are offered breast cancer (BC) surveillance because of an increased BC lifetime risk. Surveillance guidelines are, however, expert opinion-based because of a lack of data. We aimed to assess the yield and effectiveness of BC surveillance and the prevalence and type of breast disease in women with PHTS. METHODS: Sixty-five women with PHTS who visited our center between 2001 and 2021 were included. Surveillance consisted of annual magnetic resonance imaging (MRI) and mammography from ages 25 and 30 years, respectively. RESULTS: Thirty-nine women enrolled in the BC surveillance program (median age at first examination, 38 years [range, 24-70]) and underwent 156 surveillance rounds. Surveillance led to detection of BC in 7/39 women (cancer detection rate [CDR], 45/1000 rounds) and benign breast lesions (BBLs) in 11/39 women. Overall sensitivity 2 (which excludes prophylactic-mastectomy detected BCs) was 100%, whereas sensitivity 2 of mammography and MRI alone was 50% and 100%, respectively. Overall specificity was higher in follow-up rounds (86%) versus first rounds (71%). Regardless of surveillance, 21/65 women developed 35 distinct BCs (median age at first diagnosis, 40 years [range, 24-59]) and 23/65 developed 89 BBLs (median age at first diagnosis, 38 years [range, 15-61]). Surveillance-detected BCs were all T1 and N0, whereas outside surveillance-detected BCs were more often ≥T2 (60%) and N+ (45%) (p < .005). CONCLUSIONS: The findings show that annual BC surveillance with MRI starting at age 25 years enables detection of early-stage BCs. Performance measures of surveillance and CDR were both high. BBLs were commonly present, underlining the importance of evaluation of all lesions independently.

Population‐based breast cancer screening using mammography as the gold standard imaging modality has been in clinical practice for over 40 years. However, the limitations of mammography in terms of sensitivity and high false‐positive rates, particularly in high‐risk women, challenge the indiscriminate nature of population‐based screening. Additionally, in light of expanding research on new breast cancer risk factors, there is a growing consensus that breast cancer screening should move toward a risk‐adapted approach. Recent advancements in breast imaging technology, including contrast material‐enhanced mammography (CEM), ultrasound (US) (automated‐breast US, Doppler, elastography US), and especially magnetic resonance imaging (MRI) (abbreviated, ultrafast, and contrast‐agent free), may provide new opportunities for risk‐adapted personalized screening strategies. Moreover, the integration of artificial intelligence and radiomics techniques has the potential to enhance the performance of risk‐adapted screening. This review article summarizes the current evidence and challenges in breast cancer screening and highlights potential future perspectives for various imaging techniques in a risk‐adapted breast cancer screening approach.Evidence Level1.Technical EfficacyStage 5.