Department of Clinical Sciences in Lund, Cancer Epidemiology, Lund University, Lund, Sweden,
Department of Clinical Sciences in Lund, Oncology and Pathology, Lund University, Lund, Sweden,
Public Health Genomics. 2020;23(3-4):100-109. doi: 10.1159/000508684. Epub 2020 Jul 8.
Swedish national breast cancer guidelines recommend that all women diagnosed with breast cancer (BC) at the age of 35 years or younger should be referred to their regional oncogenetic clinic for genetic counseling and testing, regardless of family history of cancer. The main objective of this study was to evaluate whether place of residence at BC diagnosis and treating hospital were associated with the fact that not all BC patients diagnosed at ≤35 years in the southern part of Sweden have attended genetic counseling and testing. Between 2000 and 2013, 279 women in the South Swedish Health Care Region were diagnosed with BC at ≤35 years. Information regarding place of residence at BC diagnosis, treating hospital, time of registration and first meeting at the Oncogenetic Clinic in Lund, and genetic testing was collected. With a follow-up period until August 2018, 64% were registered at the clinic (60% underwent genetic testing) and 36% were not. BC patients from 2 counties and from rural settings with a population of <10,000 inhabitants were significantly less likely to be registered at the clinic. Our results suggest that place of residence at BC diagnosis and treating hospital were associated with the probability of referral for genetic counseling and testing for women diagnosed with BC at ≤35 years in the South Swedish Health Care Region. We propose, as a generalizable finding, that further educational and outreach activities within the health care system and the community may be needed to ensure that all women diagnosed with early-onset BC receive proper genetic counseling.
瑞典国家乳腺癌指南建议，所有 35 岁及以下确诊乳腺癌（BC）的女性都应转至其所在地区的肿瘤遗传诊所进行遗传咨询和检测，无论其家族是否有癌症病史。本研究的主要目的是评估在瑞典南部，BC 诊断时的居住地和治疗医院是否与以下事实有关，即并非所有在≤35 岁时被诊断为 BC 的患者都接受了遗传咨询和检测。2000 年至 2013 年间，瑞典南部医疗保健区有 279 名女性在≤35 岁时被诊断为 BC。收集了有关 BC 诊断时的居住地、治疗医院、登记时间和首次在隆德肿瘤遗传诊所就诊时间以及基因检测的信息。随访至 2018 年 8 月，64%的患者在诊所登记（60%接受了基因检测），36%的患者未登记。来自 2 个县和人口<10000 的农村地区的 BC 患者在诊所登记的可能性显著降低。我们的研究结果表明，BC 诊断时的居住地和治疗医院与在瑞典南部医疗保健区≤35 岁被诊断为 BC 的女性接受遗传咨询和检测的可能性相关。我们提出，作为一个普遍适用的发现，需要在医疗保健系统和社区内开展进一步的教育和外展活动，以确保所有被诊断为早发性 BC 的女性都能获得适当的遗传咨询。
