A systematic review of recommendations on screening strategies for breast cancer due to hereditary predisposition: Who, When, and How?

Background Breast cancer is a global health problem that cannot be underestimated. Many studies have shown that breast cancer is related to pathogenic mutations in hereditary predisposition genes. Clinical practice guidelines play a vital role in guiding the selection of breast cancer screening. Little is known about the quality and consistency of guidelines’ recommendations and their changes over these years. Methods We reviewed the existing screening guidelines for genetic susceptibility to breast cancer and assessed the methodological quality, and summarized the recommendations to aid clinicians to make decisions. We conducted a systematic search in PubMed, Embase, Web of Science, and guideline‐specific databases, aiming to find the guidelines of breast cancer due to hereditary predisposition. The necessary information was exacted by Excel. We also summarized different evidence grading systems. The qualities of the guidelines were assessed by the Appraisal of Guidelines Research and Evaluation II (AGREE II) instrument. Results A total of 54 recommendations from 13 guidelines were extracted. Generally speaking, the recommendations were consistent, mainly focusing on mammography and MRI. Conclusions The recommendations differ in details. Moreover, different guidelines are based on different grading systems, and some guidelines are not divided for age limits, which may limit the promotion and implementation of the guidelines. It is suggested that improvement can be made in this regard in the future.
Systematic and comprehensive search of breast cancer gene mutation screening guidelines, and summarize and analyze the recommendations, to find out the current problems