Lifetime cancer risks of PTEN mutation carriers - Letter

摘要

We read with interest the recent article by Tan and colleagues (1), summarizing their experience in germline PTEN genetic testing. There is certainly a need for information about lifetime cancer risks for individuals with deleterious PTEN mutations and the authors' data set will be helpful in denning this phenotype. However, the very high lifetime cancer risks they reported are not consistent with our clinical impressions of the PTEN patients and families we work with, and we believe that the data presented are subject to a strong ascertainment bias that would significantly overestimate cancer risk, therefore calling into question the reported lifetime cancer risks as well as the cancer screening recommendations derived therein. Specifically, 80% (295 of 368) of the PTEN-positive patients included in this report were recruited for the study on the basis of clinical criteria that included personal history of breast, endometrial, thyroid, and renal cancer (2). Because participants were selected on the basis of having cancer, they of course have a higher incidence of cancer than the chosen comparison group (general population SEER data).