Grandjean Bastien, Scherz Amina, Rabaglio Manuela
Department of Medical Oncology, Inselspital University Hospital, Bern, Switzerland.
Appl Clin Genet. 2023 Nov 9;16:205-213. doi: 10.2147/TACG.S410261. eCollection 2023.
Oncogenetic counseling has been provided at the University Hospital of Bern since 2004. Since the public announcement by Ms. Angelina Jolie in 2013 that she had undergone bilateral prophylactic mastectomy, other oncogenetic centers have reported an increase in consultations. We conducted a retrospective review of the oncogenetic consultations at our center to evaluate the presence and the consequences of a potential "Angelina Jolie effect" and to characterize this patient population over a decade.
All initial oncogenetic consultations between 2005 and 2015 were collected, using electronic records. Demographics, cancer type, testing, and mutation results, as well as consultation rates, were recorded. The yearly trends were analyzed using Joinpoint regression analysis (JPA).
In total, 823 patient cases were included, mostly women (84%), half of them with a positive personal cancer history. A hereditary breast and ovarian cancer (HBOC) risk was the main reason for consultation (72%). Moreover, 22% of patients had a previously detected familial mutation. Two-thirds underwent testing, which yielded a positive test result in 31% of the cases. According to JPA, the consultation rate increased throughout the decade, with a significant upward trend from 2013. Rates of testing and positive results remained stable over time. Most patients (86%) fulfilled the referral criteria of published guidelines.
At our center, we found retrospectively a disproportionate growth in the referral rate for HBOC cases compared to other oncological cases after the year 2013, but overall, no change in testing rates was detected.
自2004年起，伯尔尼大学医院就开始提供肿瘤遗传咨询服务。自2013年安吉丽娜·朱莉女士公开宣布她接受了双侧预防性乳房切除术以来，其他肿瘤遗传咨询中心报告称咨询量有所增加。我们对本中心的肿瘤遗传咨询进行了回顾性研究，以评估潜在的“安吉丽娜·朱莉效应”的存在及后果，并对这一患者群体进行长达十年的特征描述。
利用电子记录收集了2005年至2015年间所有首次肿瘤遗传咨询病例。记录了人口统计学信息、癌症类型、检测及突变结果，以及咨询率。使用Joinpoint回归分析（JPA）分析年度趋势。
共纳入823例患者病例，其中大多数为女性（84%），半数患者有个人癌症病史阳性。遗传性乳腺癌和卵巢癌（HBOC）风险是咨询的主要原因（72%）。此外，22%的患者之前检测到家族性突变。三分之二的患者接受了检测，其中31%的检测结果呈阳性。根据JPA分析，咨询率在这十年间持续上升，2013年后呈显著上升趋势。检测率和阳性结果率随时间保持稳定。大多数患者（86%）符合已发表指南的转诊标准。
在我们中心，回顾性研究发现，2013年后HBOC病例的转诊率相比其他肿瘤病例增长不成比例，但总体而言，未检测到检测率的变化。
