Abstract
BackgroundUnique 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.MethodsThis 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.ResultsOf 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.ConclusionIn 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.
Highlights
Unique pathogenic mutations in BRCA1 and 2 genes have been reported in different populations of patients originating from the Middle East region
We have recently reviewed the literature regarding BRCA mutations reported in the Middle East and North Africa (MENA) region [3], we found a certain number of mutations specific to each country
After Institutional Review Board (IRB) approval, we retrospectively reviewed all cases of Iraqi patients who presented for BRCA mutation testing at the Medical Genetics Unit at American University of Beirut Medical Center (AUBMC) between January 2012 and October 2018
Summary
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. For several reasons including conflict-related deficiencies in healthcare services, a significant number of Iraqi patients seek cancer care at AUBMC [1]. Very limited information is available regarding BRCA mutations in the Iraqi population. As far as we are aware, this is the first
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