Even with advanced and timely screening, we observed breast cancer may still be missed, underscoring the role of risk reduction mastectomy for high-risk PV carriers which has been available as standard care for individuals carrying PVs in BRCA1, BRCA2, CDH1, PALB2, PTEN and TP53 (case 8, 9; Table 5) [11]. Here, PTEN is linked to breast cancer.