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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.
Moukadem, Hiba A; Al Masry, Ahmad; Atwani, Rula W; Kreidieh, Firas; Khalil, Lana E; Saroufim, Rita; Daouk, Sarah; Dalle, Iman Abou; El Saghir, Nagi S.
Afiliación
  • Moukadem HA; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Al Masry A; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Atwani RW; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Kreidieh F; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Khalil LE; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Saroufim R; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Daouk S; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Dalle IA; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • El Saghir NS; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
Eur J Breast Health ; 18(1): 16-20, 2022 Jan.
Article en En | MEDLINE | ID: mdl-35059587
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Etiology_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Eur J Breast Health Año: 2022 Tipo del documento: Article País de afiliación: Líbano Pais de publicación: Turquía

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Diagnostic_studies / Etiology_studies / Risk_factors_studies / Screening_studies Idioma: En Revista: Eur J Breast Health Año: 2022 Tipo del documento: Article País de afiliación: Líbano Pais de publicación: Turquía