原发性乳腺癌和基因 BRCA 突变患者的遗传咨询、筛查和降低风险手术:中低收入国家未满足的需求》。

European journal of breast health Pub Date : 2021-12-30 eCollection Date: 2022-01-01 DOI:10.4274/ejbh.galenos.2021.2021-5-1
Hiba A Moukadem, Ahmad Al Masry, Rula W Atwani, Firas Kreidieh, Lana E Khalil, Rita Saroufim, Sarah Daouk, Iman Abou Dalle, Nagi S El Saghir
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引用次数: 0

摘要

目的:世界范围内的遗传咨询做法各不相同,中低收入国家(LMICs)往往没有这方面的报告。我们介绍了一组 BRCA 致病基因突变或 BRCA 变异意义不明 (VUS) 患者的后续遗传咨询、乳腺筛查、降低风险的输卵管切除术 (RRSO) 和对侧预防性乳腺切除术 (CPM):通过病历审查和电话收集信息。在 250 名患者中,14 人有致畸突变,31 人有 VUS,其中 19 人患有原发性早期乳腺癌。我们收集了有关遗传咨询、筛查、CPM 和 RRSO 的信息:我们调查了 14 名有害基因突变患者(7 名 BRCA1 和 7 名 BRCA2)和 19 名 VUS 基因突变患者(20 名 VUS、4 名 BRCA1、16 名 BRCA2;1 名患者同时患有这两种基因突变)。在 14 名具有有害 BRCA 基因突变的患者中,57.14%(8/14 名患者)接受了肿瘤专家的遗传咨询。随后,85.71%(12/14)的患者接受了乳房 X 线照相术筛查,35.71%(5/14)的患者接受了乳房磁共振成像(MRI)筛查。此外,其中 50% 的患者接受了 CPM 检查,57.14% 的患者接受了 RRSO 检查。在19名VUS突变患者中,10.5%的患者接受了肿瘤专家的遗传咨询;78.9%的患者接受了定期乳腺X光筛查,31.5%的患者接受了乳腺磁共振成像检查;1名患者接受了CPM检查,2名患者接受了RRSO检查:结论:在知道自己有基因突变后的三年内,50%的种系 BRCA 基因突变患者接受了 CPM 检查,60%的患者接受了 RRSO 检查,其中大部分患者接受了乳腺 X 线造影筛查监测,但只有 50%的患者接受了磁共振成像筛查。对 VUS 患者进行乳房 X 光检查的随访率为 78%,但核磁共振检查的随访率仅为 31%。缺乏磁共振成像监测反映出资源有限和咨询不足。遗传咨询由肿瘤内科医生进行,这反映了低收入国家的趋势。我们的数据表明,黎巴嫩和其他低收入国家需要专业的遗传咨询师和最佳监控。
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Genetic Counseling, Screening and Risk-Reducing Surgery in Patients with Primary Breast Cancer and Germline BRCA Mutations: Unmet Needs in Low- and Middle-Income Countries.

Objective: Worldwide genetic counseling practices are variable and often not reported in low- and middle-income countries (LMICs). We present the follow-up genetic counseling, breast screening, risk-reducing salpingo-oophorectomy (RRSO) and contralateral prophylactic mastectomy (CPM) in a cohort of study patients with either BRCA pathogenic mutations or BRCA variant of unknown significance (VUS).

Materials and methods: Chart review and phone calls for the collection of information. Out of a cohort of 250 patients, 14 had deleterious mutations and 31 had a VUS, of whom 19 had primary early breast cancer. We collected information about genetic counseling, screening, CPM and RRSO.

Results: Fourteen patients with deleterious mutations (7 BRCA1 and 7 BRCA2) and 19 patients with VUS mutations (20 VUS, 4 BRCA1, 16 BRCA2; 1 patient had both) were surveyed. Of 14 patients with deleterious BRCA mutations, 57.14% (8/14 patients) received genetic counseling from their oncologist. Subsequently 85.71% (12/14) are undergoing mammography screening and 35.71% (5/14) breast screening magnetic resonance imaging (MRI). Furthermore, 50% of them underwent CPM and 57.14% underwent RRSO. Of 19 patients with VUS mutations, 10.5% received genetic counseling from their oncologist; 78.9% were undergoing regular screening mammogram and 31.5% were undergoing breast MRI; one patient underwent CPM and two patients RRSO.

Conclusion: Within three years from knowing they have a mutation, 50% of patients with germline BRCA mutations had undergone CPM and 60% RRSO, the majority of them had screening mammography surveillance but only 50% had screening MRI. Follow-up of patients with VUS with mammography was 78% but MRI was only 31%. Lack of MRI surveillance reflects both limited resources and insufficient counseling. Genetic counseling was done by medical oncologists, which reflects a trend in LMIC. Our Data shows the importance of the need for professional genetic counselors and optimal surveillance in Lebanon and other LMICs.

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