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":null,"pages":null},"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\":null,\"pages\":null},\"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}
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.