Broadening Criteria for BRCA1/2 Evaluation : Placing the USPSTF Recommendation in Context
Ce dossier présente une mise à jour des recommandations 2013 de l'"US Preventive Services Task Force" concernant l'évaluation chez les femmes du risque de cancer lié aux mutations des gènes BRCA1 et BRCA2 ainsi que l'indication de consultations de conseil génétique et de tests génétiques
Pathogenic variants (ie, mutations) in the breast cancer susceptibility 1 and 2 (BRCA1/2) genes are associated with a high risk of ovarian and female breast cancer as well as, particularly for BRCA2, elevated risks of male breast cancer, aggressive prostate cancer, and pancreatic cancer. The risks of ovarian cancer and breast cancer are as high as 45% and 70%, respectively. The detection of a BRCA1/2 pathogenic variant can significantly alter medical management (by early detection or risk reduction strategies) and improve outcomes.In this issue of JAMA, the US Preventive Services Task Force (USPSTF) updates its Recommendation Statement regarding genetic testing for BRCA1 and BRCA2 pathogenic variants and addresses the question of how to best identify individuals for whom genetic information can be used for prevention of disease, stating that “The USPSTF recommends that primary care clinicians assess women with a personal or family history of breast, ovarian, tubal, or peritoneal cancer or who have an ancestry associated with [BRCA1/2] gene mutations with an appropriate brief familial risk assessment tool. Women with a positive result on the risk assessment tool should receive genetic counseling and, if indicated after counseling, genetic testing (B recommendation).”
JAMA , éditorial, 2018