دورية أكاديمية

Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting

التفاصيل البيبلوغرافية
العنوان: Precise, Genotype-First Breast Cancer Prevention: Experience With Transferring Monogenic Findings From a Population Biobank to the Clinical Setting
المؤلفون: Hannes Jürgens, Laura Roht, Liis Leitsalu, Margit Nõukas, Marili Palover, Tiit Nikopensius, Anu Reigo, Mart Kals, Kersti Kallak, Riina Kütner, Kai Budrikas, Saskia Kuusk, Vahur Valvere, Piret Laidre, Kadri Toome, Kadri Rekker, Mikk Tooming, Ülle Murumets, Tiina Kahre, Krista Kruuv-Käo, Katrin Õunap, Peeter Padrik, Andres Metspalu, Tõnu Esko, Krista Fischer, Neeme Tõnisson
المصدر: Frontiers in Genetics, Vol 13 (2022)
بيانات النشر: Frontiers Media S.A., 2022.
سنة النشر: 2022
المجموعة: LCC:Genetics
مصطلحات موضوعية: genotype-first approach, return of results to biobank participants, research findings/results in healthcare, clinical practice personalized medicine, precision screening, Genetics, QH426-470
الوصف: Although hereditary breast cancer screening and management are well accepted and established in clinical settings, these efforts result in the detection of only a fraction of genetic predisposition at the population level. Here, we describe our experience from a national pilot study (2018–2021) in which 180 female participants of Estonian biobank (of >150,000 participants in total) were re-contacted to discuss personalized clinical prevention measures based on their genetic predisposition defined by 11 breast cancer–related genes. Our results show that genetic risk variants are relatively common in the average-risk Estonian population. Seventy-five percent of breast cancer cases in at-risk subjects occurred before the age of 50 years. Only one-third of subjects would have been eligible for clinical screening according to the current criteria. The participants perceived the receipt of genetic risk information as valuable. Fluent cooperation of project teams supported by state-of-art data management, quality control, and secure transfer can enable the integration of research results to everyday medical practice in a highly efficient, timely, and well-accepted manner. The positive experience in this genotype-first breast cancer study confirms the value of using existing basic genomic data from population biobanks for precise prevention.
نوع الوثيقة: article
وصف الملف: electronic resource
اللغة: English
تدمد: 1664-8021
العلاقة: https://www.frontiersin.org/articles/10.3389/fgene.2022.881100/fullTest; https://doaj.org/toc/1664-8021Test
DOI: 10.3389/fgene.2022.881100
الوصول الحر: https://doaj.org/article/c00f41df49fe491cbba2b6ab1143c687Test
رقم الانضمام: edsdoj.00f41df49fe491cbba2b6ab1143c687
قاعدة البيانات: Directory of Open Access Journals
الوصف
تدمد:16648021
DOI:10.3389/fgene.2022.881100