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BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center
BMC Medical Genetics ( IF 2.023 ) Pub Date : 2019-09-05 , DOI: 10.1186/s12881-019-0885-9
Chantal Farra , Christelle Dagher , Lama Hamadeh , Nagi El Saghir , Deborah Mukherji

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. 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. 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. 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.

中文翻译:

在三级转诊中心就诊的伊拉克患者队列中的BRCA突变

在来自中东地区的不同患者群体中,已经报道了BRCA1和2基因的独特致病突变。伊拉克人口的数据有限。由于许多原因,大量伊拉克患者前往黎巴嫩接受医疗护理。这是在来自伊拉克的高危患者队列中进行的BRCA全基因测序的第一份报告。这是对2012年1月至2018年10月在贝鲁特美国大学被诊断为BRCA突变检测的乳腺癌或卵巢癌伊拉克患者的回顾性回顾。在我们机构接受基因检测的42名伊拉克妇女中,有3种BRCA致病变异是成立。鉴定了BRCA1 c.224_227delAAAG中的两个突变和c.5431C> T,以及BRCA2 c.5576_5579delTTAA中的一个突变。其他三名患者的序列变化被认为是不确定的变异。在这一高危患者队列中,以前在中东人群中未报告过检测到的三种致病性BRCA变异体中的一种。需要进一步的研究来描述伊拉克人口中BRCA突变的范围。
更新日期:2019-09-05
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