Genetic testing and counseling challenges in personalized breast cancer care: review article with insights from Türkiye.

Autor: Cicin I; İstinye University, Department of Internal Medicine, Division of Medical Oncology, Istanbul, Türkiye., Karadurmus N; Gulhane Research & Training Hospital, Department of Internal Medicine, Division of Medical Oncology, Ankara, Türkiye., Bilici A; Medipol University, Department of Internal Medicine, Division of Medical Oncology, Istanbul, Türkiye., Bahsi T; Ankara Etlik City Hospital, Department of Medical Genetics, Ankara, Türkiye., Sendur MA; Ankara Yıldırım Beyazıt University, Department of Internal Medicine, Division of Medical Oncology, Ankara, Türkiye., Demirci U; Memorial Ankara Hospital, Department of Internal Medicine, Division of Medical Oncology, Ankara, Türkiye., Goksu SS; Akdeniz Univesity, Department of Internal Medicine, Division of Medical Oncology, Antalya, Türkiye., Er O; Acıbadem University, Department of Internal Medicine, Division of Medical Oncology, Istanbul, Türkiye., Bisgin A; Cukurova University, Department of Medical Genetics, Adana, Türkiye., Ozturk Saglam OF; Pfizer Pharmaceuticals, Medical Oncology Department, Istanbul, Türkiye., Aver B; Pfizer Pharmaceuticals, Medical Oncology Department, Istanbul, Türkiye., Kilickap S; Istinye University, Department of Internal Medicine, Division of Medical Oncology, Istanbul, Türkiye.
Jazyk: angličtina
Zdroj: Future oncology (London, England) [Future Oncol] 2024 May; Vol. 20 (15), pp. 1031-1045. Date of Electronic Publication: 2023 Nov 28.
DOI: 10.2217/fon-2023-0518
Abstrakt: According to current evidence, testing for germline BRCA pathogenic variants in newly diagnosed breast cancer (BC) patients has the potential to reduce the burden of the disease through targeted therapies and secondary prevention. A personalized approach to testing can lead to improved individual outcomes for patients. Despite the proven clinical utility and therapeutic impact of BRCA1/2 tests in shaping therapy for metastatic BC, awareness and access to these tests are limited in many developing countries, including Türkiye. This limitation impacts the healthcare economy as delayed or missed interventions can lead to increased long-term costs. The limited access is mainly due to fear of stigmatization among patients, country-specific legislation and costs, a lack of awareness, vagueness surrounding the tests and access restrictions. This review offers a perspective for policymakers and healthcare providers in Türkiye to establish pathways that integrate the patient experience into comprehensive care pathways and national cancer control plans.
Databáze: MEDLINE