背景：乳腺癌易感基因，如 BRCA1、BRCA2、PALB2、CHEK2 等在我们的患者群体中越来越得到认可。除了对受检患者本身的治疗决策产生影响外，识别高危家庭成员还为采取癌症预防措施提供了机会。方法：这是一项针对在我们机构接受治疗的具有阳性乳腺癌易感种系变异的成年乳腺癌患者的观察性横断面研究。具有不确定意义的变异（VUS）或拒绝同意的患者被排除在外。数据是使用研究团队开发的结构化调查问卷从合格的乳腺癌患者样本中收集的，并测试了有效性和可靠性，以及临床图表审查表。患者被邀请在预定的肿瘤诊所就诊期间参加该研究。结果：共纳入 169 名患者，其中 42 名（24.9%）具有致病性/可能致病（P/LP）BRCA1 变异，84 名（49.7%）具有 BRCA2 变异，43 名（25.4%）具有非 BRCA 变异。所有患者均为女性，平均年龄为 45 ± 9.9 岁。在 140 名符合条件的患者中，104 名（74.3%）接受了预防性乳房切除术，而 134 名符合条件的患者中有 79 名（59.0%）接受了预防性双侧输卵管卵巢切除术（BSO）。结果已与大多数（n = 160，94.7%）家庭成员进行了沟通，其中包括 642 名一级女性亲属，其中 286 名（44.5%）没有采取任何行动。分别有 54%、50%、34% 和 15% 的人将害怕检测结果呈阳性、检测费用、不愿意采取预防措施和社会耻辱视为基因检测的障碍。结论：大多数 P/LP 变异患者均采取了降低风险的干预措施，包括乳房切除术和 BSO。然而，虽然基因检测结果与家人的沟通率较高，但适当的预防措施却相对较低。癌症诊断的成本和恐惧是阻止我们队列进行级联测试的主要原因。版权所有 © 2023 Abdel-Razeq, Mustafa, Abdel-Razeq, Abu-Fares, Al Masri, Damsees, El-Atrash, Elemian, Alkyam, Ammar 、巴特尔、Kderat 和 Alhajahjeh。

Background: Breast cancer susceptibility genes such as BRCA1, BRCA2, PALB2, CHEK2 and many others are increasingly recognized among our patient population. In addition to their impact on treatment decisions of tested patients themselves, identifying at-risk family members offer opportunities for cancer preventive measures. Methods: This is an observational cross-sectional study of adult breast cancer patients with positive breast-cancer-susceptibility germline variants who received treatment at our institution. Patients with variants of uncertain significance (VUS), or who refused to give consent, were excluded. The data was collected from an eligible sample of breast cancer patients using a structured questionnaire developed by the study team and tested for validity and reliability, as well as a clinical chart review form. Patients were invited to participate in the study during their scheduled oncology clinics visit. Results: 169 patients were enrolled, including 42 (24.9%) with pathogenic/likely pathogenic (P/LP) BRCA1 variants, 84 (49.7%) with BRCA2 and 43 (25.4%) with non-BRCA variants. All patients were female and the mean age was 45 ± 9.9 years. Among 140 eligible patients, 104 (74.3%) underwent prophylactic mastectomy, while 79 (59.0%) of 134 eligible patients had prophylactic bilateral salpingo-oophorectomy (BSO). Results were communicated with family members by majority (n = 160, 94.7%), including 642 first degree female relatives, and 286 (44.5%) of them have taken no action. Fear of positive test results, cost of testing, unwillingness to undergo preventive measures, and social stigma were cited as barriers to genetic testing in 54%, 50%, 34% and 15%, respectively. Conclusion: Risk-reducing interventions including mastectomy and BSO were carried by majority of patients with P/LP variants. However, though the rate of communication of genetic testing results with family members was high, proper preventive measures were relatively low. Cost and fear of cancer diagnosis, were the leading causes that prevented cascade testing in our cohort.Copyright © 2023 Abdel-Razeq, Mustafa, Abdel-Razeq, Abu-Fares, Al Masri, Damsees, El-Atrash, Elemian, Alkyam, Ammar, Bater, Kderat and Alhajahjeh.