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BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center.
Farra, Chantal; Dagher, Christelle; Hamadeh, Lama; El Saghir, Nagi; Mukherji, Deborah.
Afiliação
  • Farra C; Medical Genetics Unit, Pathology Department, American University of Beirut Medical Center, Beirut, Lebanon.
  • Dagher C; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Hamadeh L; Medical Genetics Unit, Pathology Department, American University of Beirut Medical Center, Beirut, Lebanon.
  • El Saghir N; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.
  • Mukherji D; Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon. dm25@aub.edu.lb.
BMC Med Genet ; 20(1): 154, 2019 09 05.
Article em En | MEDLINE | ID: mdl-31488070
BACKGROUND: Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region. Limited data are available for the Iraqi population. For many reasons a large number of Iraqi patients present to Lebanon for medical care. This is the first report of BRCA full gene sequencing conducted in a cohort of high-risk patients originating from Iraq. METHODS: This is a retrospective review of Iraqi patients diagnosed with breast or ovarian cancer referred for BRCA mutation testing at the American University of Beirut from January 2012 to October 2018. RESULTS: Of the 42 Iraqi women who underwent genetic testing at our institution, 3 BRCA pathogenic variants were found. Two mutations in BRCA1 c.224_227delAAAG and c.5431C > T and one mutation in BRCA2 c.5576_5579delTTAA were identified. Three other patients had sequence changes considered as variants of undetermined significance. CONCLUSION: In this cohort of high-risk patients, one out of the three pathogenic BRCA variants detected has not previously been reported in the Middle Eastern population. Further studies are required to delineate the spectrum of BRCA mutations in the Iraqi population.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Ovarianas / Neoplasias da Mama / Proteína BRCA1 / Predisposição Genética para Doença / Proteína BRCA2 / Centros de Atenção Terciária / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Middle aged País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Líbano

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Neoplasias Ovarianas / Neoplasias da Mama / Proteína BRCA1 / Predisposição Genética para Doença / Proteína BRCA2 / Centros de Atenção Terciária / Mutação Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adult / Aged / Female / Humans / Middle aged País/Região como assunto: Asia Idioma: En Revista: BMC Med Genet Assunto da revista: GENETICA MEDICA Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Líbano