Cost-effectiveness of universal BRCA1/2 screening: Evidence-based decision making
Menée aux Etats-Unis, cette étude analyse le rapport coût-efficacité d'une détection systématique des mutations des gènes BRCA1 ou BRCA2 pour améliorer les décisions thérapeutiques préventives chez les femmes (mastectomie bilatérale, salpingo-ovariectomie prophylactique, surveillance, chimioprévention, préservation de la fertilité, etc)
Of the 233 000 breast cancers diagnosed annually in the United States, 5% to 10% are attributable to mutations in the BRCA1 or BRCA2 genes.1 Breast cancers in BRCA mutation carriers are characterized by younger age at onset, bilateral occurrence, and more aggressive subtypes, such as “triple-negative.”1 Female mutation carriers face a 45% to 65% breast cancer risk by age 70 years, and an ovarian cancer risk ranging from 10% to 17% (BRCA2) to 39% (BRCA1). Women found to be BRCA mutation carriers—either through genetic screening or following a cancer diagnosis—may choose to undergo bilateral risk-reducing mastectomy (RRM) and/or salpingo-oophorectomy (RRSO) as an alternative to increased surveillance or chemoprevention. Knowledge of a genetic mutation may have a further impact on fertility decisions, including oocyte retrieval and genetic testing prior to cryopreservation or embryo implantation.