Increased reach of genetic cancer risk assessment as a tool for precision management of hereditary breast cancer
Menée aux Etats-Unis à partir de données portant sur 897 patientes atteintes d'un cancer du sein diagnostiqué entre 2006 et 2014 (âge au diagnostic : 40 ans ou moins), cette étude analyse, sur cette période, le taux de recours à un test de recherche de mutations des gènes BRCA, puis évalue l'influence des résultats sur la décision thérapeutique
Genetic cancer risk assessment (GCRA) is an interdisciplinary clinical practice that incorporates genetics, oncology, and counseling skills to quantify risk and implement more precise care for individuals with inherited cancer predisposition.1 GCRA is warranted for individuals with features suggesting hereditary cancer, such as early age at onset, triple-negative breast cancer, and/or a family history of breast or ovarian cancer. The cloning of the BRCA1 gene on chromosome 17 in 1994, and of a second high-risk locus (BRCA2) on chromosome 13 in 1995, ushered in an era with increasing appreciation of the potential for oncogenetics to influence breast cancer screening, treatment, and prevention. The subsequent decades have been marked by an ever greater understanding of gene-specific pathology and age-specific risk for BRCA-associated breast cancers, as well as a growing understanding of hormonal and genetic modifiers of risk.1
JAMA Oncology , éditorial en libre accès, 2015