Considerations when using breast cancer risk models for women with negative BRCA1/BRCA2 mutation results
Menée à partir de données portant sur une cohorte de 14 657 femmes ne présentant pas de mutation BRCA1/BRCA2 (durée médiane de suivi : 10 ans), cette étude évalue la performance de trois modèles prédictifs (BOADICEA, BRCAPRO et IBIS), basés sur les antécédents familiaux, pour estimer le risque de développer un cancer du sein
The performance of breast cancer risk models for women with a family history but negative BRCA1 and/or BRCA2 mutation test results is uncertain. We calculated the cumulative 10-year invasive breast cancer risk at cohort entry for 14,657 unaffected women (96.1% had an affected relative) not known to carry BRCA1 or BRCA2 mutations at baseline using three pedigree-based models (BOADICEA, BRCAPRO and IBIS). During follow-up, 482 women were diagnosed with invasive breast cancer. Mutation testing was conducted independent of incident cancers. All models under-predicted risk by 26.3-56.7% for women who tested negative but whose relatives had not been tested (N = 1,363; 63 breast cancers). While replication studies with larger sample sizes are needed, until these models are re-calibrated for women who test negative and have no relatives tested, caution should be used when considering changing the breast cancer risk management intensity of such women based on risk estimates from these models.
Journal of the National Cancer Institute , résumé, 2018