在瑞士中心11年的肿瘤遗传学咨询:患者和测试特征。

IF 2.6 Q2 GENETICS & HEREDITY Application of Clinical Genetics Pub Date : 2023-11-09 eCollection Date: 2023-01-01 DOI:10.2147/TACG.S410261
Bastien Grandjean, Amina Scherz, Manuela Rabaglio
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引用次数: 0

摘要

自2004年以来,伯尔尼大学医院一直提供肿瘤遗传学咨询。自2013年安吉丽娜·朱莉(Angelina Jolie)公开宣布自己接受了双侧预防性乳房切除术以来,其他肿瘤遗传中心的咨询人数有所增加。我们对我们中心的肿瘤遗传学咨询进行了回顾性审查,以评估潜在的“安吉丽娜·朱莉效应”的存在和后果,并对这一患者群体在十年中的特征进行了描述。方法:收集2005 - 2015年所有首次肿瘤会诊病例,采用电子记录。记录了人口统计学、癌症类型、检测和突变结果以及咨询率。使用Joinpoint回归分析(JPA)分析年度趋势。结果:共纳入823例患者,以女性为主(84%),其中一半患者有个人癌症病史。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%的患者有先前检测到的家族突变。三分之二的人接受了检测,31%的病例检测结果呈阳性。根据JPA的数据,咨询率在过去十年中不断上升,自2013年以来呈显著上升趋势。随着时间的推移,检测率和阳性结果保持稳定。大多数患者(86%)符合已出版指南的转诊标准。讨论:在我们的中心,我们回顾性地发现,2013年后HBOC病例的转诊率与其他肿瘤病例相比有不成比例的增长,但总体而言,检测率没有变化。
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Eleven Years of Oncogenetic Consultations in a Swiss Center: Patient and Testing Characteristics.

Introduction: 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.

Methods: 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).

Results: 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.

Discussion: 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.

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来源期刊
Application of Clinical Genetics
Application of Clinical Genetics Biochemistry, Genetics and Molecular Biology-Genetics
CiteScore
5.40
自引率
0.00%
发文量
20
审稿时长
16 weeks
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