Jürgens Hannes, Roht Laura, Leitsalu Liis, Nõukas Margit, Palover Marili, Nikopensius Tiit, Reigo Anu, Kals Mart, Kallak Kersti, Kütner Riina, Budrikas Kai, Kuusk Saskia, Valvere Vahur, Laidre Piret, Toome Kadri, Rekker Kadri, Tooming Mikk, Kahre Tiina, Kruuv-Käo Krista, Õunap Katrin, Padrik Peeter, Metspalu Andres, Esko Tõnu, Fischer Krista, Tõnisson Neeme
Tartu University Hospital, Clinic of Hematology and Oncology, Tartu, Estonia.
University of Tartu, Clinic of Hematology and Oncology, Tartu, Estonia.
Front Genet. 2022 Jul 22;13:881100. doi: 10.3389/fgene.2022.881100. eCollection 2022.
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.
尽管遗传性乳腺癌的筛查和管理在临床环境中已得到广泛认可和确立，但这些努力在人群层面仅能检测到一部分遗传易感性。在此，我们描述了一项全国性试点研究（2018 - 2021年）的经验，在该研究中，我们再次联系了爱沙尼亚生物银行（总共有超过15万名参与者）中的180名女性参与者，以讨论基于由11个与乳腺癌相关基因所定义的遗传易感性的个性化临床预防措施。我们的结果表明，遗传风险变异在平均风险的爱沙尼亚人群中相对常见。高危受试者中75%的乳腺癌病例发生在50岁之前。根据当前标准，只有三分之一的受试者符合临床筛查条件。参与者认为获得遗传风险信息很有价值。在先进的数据管理、质量控制和安全传输的支持下，项目团队的流畅合作能够以高效、及时且广受认可的方式将研究结果整合到日常医疗实践中。这项以基因型优先的乳腺癌研究中的积极经验证实了利用人群生物银行现有的基础基因组数据进行精准预防的价值。
