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
{"title":"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》。","authors":"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","doi":"10.4274/ejbh.galenos.2021.2021-5-1","DOIUrl":null,"url":null,"abstract":"<p><strong>Objective: </strong>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 <i>BRCA</i> pathogenic mutations or <i>BRCA</i> variant of unknown significance (VUS).</p><p><strong>Materials and methods: </strong>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.</p><p><strong>Results: </strong>Fourteen patients with deleterious mutations (7 <i>BRCA1</i> and 7 <i>BRCA2</i>) and 19 patients with VUS mutations (20 VUS, 4 <i>BRCA1</i>, 16 <i>BRCA2</i>; 1 patient had both) were surveyed. Of 14 patients with deleterious <i>BRCA</i> 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.</p><p><strong>Conclusion: </strong>Within three years from knowing they have a mutation, 50% of patients with germline <i>BRCA</i> 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.</p>","PeriodicalId":11885,"journal":{"name":"European journal of breast health","volume":" ","pages":"16-20"},"PeriodicalIF":0.0000,"publicationDate":"2021-12-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8734520/pdf/ejbh-18-16.pdf","citationCount":"0","resultStr":"{\"title\":\"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.\",\"authors\":\"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\",\"doi\":\"10.4274/ejbh.galenos.2021.2021-5-1\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Objective: </strong>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 <i>BRCA</i> pathogenic mutations or <i>BRCA</i> variant of unknown significance (VUS).</p><p><strong>Materials and methods: </strong>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.</p><p><strong>Results: </strong>Fourteen patients with deleterious mutations (7 <i>BRCA1</i> and 7 <i>BRCA2</i>) and 19 patients with VUS mutations (20 VUS, 4 <i>BRCA1</i>, 16 <i>BRCA2</i>; 1 patient had both) were surveyed. Of 14 patients with deleterious <i>BRCA</i> 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.</p><p><strong>Conclusion: </strong>Within three years from knowing they have a mutation, 50% of patients with germline <i>BRCA</i> 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.</p>\",\"PeriodicalId\":11885,\"journal\":{\"name\":\"European journal of breast health\",\"volume\":\" \",\"pages\":\"16-20\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2021-12-30\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8734520/pdf/ejbh-18-16.pdf\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"European journal of breast health\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.4274/ejbh.galenos.2021.2021-5-1\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/1/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"\",\"JCRName\":\"\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"European journal of breast health","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.4274/ejbh.galenos.2021.2021-5-1","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/1/1 0:00:00","PubModel":"eCollection","JCR":"","JCRName":"","Score":null,"Total":0}
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。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

摘要图片

查看原文
分享 分享
微信好友 朋友圈 QQ好友 复制链接
本刊更多论文
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.

求助全文
通过发布文献求助,成功后即可免费获取论文全文。 去求助
来源期刊
自引率
0.00%
发文量
0
期刊最新文献
A Rare Case of Concurrent Lupus Mastitis and Sarcoidosis in a 62-Year-Old Female High Levels of Superoxide Dismutase 2 Are Associated With Worse Prognosis in Patients With Breast Cancer The Effect of Informative Mobile App Use on Anxiety, Distress, and Quality of Life of Women With Breast Cancer Bioinformatic Investigation of Genetic Changes in Paraoxonase Genes in Breast Cancer and Breast Cancer Subtypes Skin Staining After Injection of Superparamagnetic Iron Oxide for Sentinel Lymph Node Dissection: A Retrospective Study of Two Protocols for Injection and Long-Term Follow-Up
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
现在去查看 取消
×
提示
确定
0
微信
客服QQ
Book学术公众号 扫码关注我们
反馈
×
意见反馈
请填写您的意见或建议
请填写您的手机或邮箱
已复制链接
已复制链接
快去分享给好友吧!
我知道了
×
扫码分享
扫码分享
Book学术官方微信
Book学术文献互助
Book学术文献互助群
群 号:481959085
Book学术
文献互助 智能选刊 最新文献 互助须知 联系我们:info@booksci.cn
Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。
Copyright © 2023 Book学术 All rights reserved.
ghs 京公网安备 11010802042870号 京ICP备2023020795号-1