Genetic Testing in Patients With Newly Diagnosed Breast Cancer : Room for Improvement
Menée aux Etats-Unis à partir d'une enquête auprès de 3 672 patientes atteintes d'un cancer du sein diagnostiqué entre 2014 et 2015 (taux de réponse : 68%), cette étude met en évidence des insuffisances au niveau de l'intégration des tests génétiques dans la prise de décision thérapeutique
Inherited mutations in the tumor suppressor genes BRCA1 and BRCA2 confer high lifetime risks for breast and ovarian cancer. Although the incidence of pathogenic variants in these genes is only 0.1% to 0.2% in the general population, they account for up to 5% of all breast cancers and 50% of hereditary breast cancers. Genetic testing to detect BRCA mutations has been available since 1996, but not until recently has testing become more widely used. Development of new massively parallel sequencing technology and the US Supreme Court ruling of Association for Molecular Pathology v Myriad Genetics, which invalidated the patents that restricted BRCA1/2 testing, resulted in decreased costs for genetic testing and more widespread accessibility. Public disclosures from some high-profile celebrities have also increased awareness of the importance of genetic testing in those with a significant family history of breast or ovarian cancer, which has led to patient-initiated testing. A Canadian retrospective study that evaluated the impact of the actress Angelina Jolie’s story of undergoing risk-reducing bilateral mastectomy for being a BRCA1 mutation carrier revealed that referral for genetic counseling rose by 90% in the first 6 months after the release of the story and that the number of BRCA1/2 carriers identified increased by 110%.3
Journal of Clinical Oncology , éditorial en libre accès, 2016