Resumen
The NCCN Clinical Practice Guidelines are testing criteria used to identify high-risk individuals associated with an increased risk of breast, ovarian, pancreatic, and prostate cancer. The testing criteria have been recently modified in early 2023. In this study, we provided a real-world application of the updated criteria and their effect on germline mutation rates in Chinese high-risk breast cancer patients. An additional 6.4% (242/3797) of the patients were included after the revision; the mutation rates in these newly included patients were 2.1% and 2.5% for BRCA1/2 and all six high-penetrance genes (BRCA1, BRCA2, CDH1, PALB2, PTEN, and TP53), respectively. Applying the updated criteria for genetic investigation would increase the number of positive detection, leading to potentially more patients. However, the balance between the resource and benefits requires further consideration.