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在一家三级转诊中心就诊的伊拉克患者队列中的 BRCA 突变。

BRCA mutations in a cohort of Iraqi patients presenting to a tertiary referral center.

机构信息

Medical Genetics Unit, Pathology Department, American University of Beirut Medical Center, Beirut, Lebanon.

Division of Hematology Oncology, Department of Internal Medicine, American University of Beirut Medical Center, Beirut, Lebanon.

出版信息

BMC Med Genet. 2019 Sep 5;20(1):154. doi: 10.1186/s12881-019-0885-9.

Abstract

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.

摘要

背景

BRCA1 和 BRCA2 基因中的独特致病突变已在来自中东地区的不同患者群体中报道。针对伊拉克人群,相关数据有限。出于多种原因,大量伊拉克患者前往黎巴嫩寻求医疗服务。这是首次在源自伊拉克的高危患者群体中开展 BRCA 全基因测序的报告。

方法

这是对 2012 年 1 月至 2018 年 10 月期间因 BRCA 突变检测而在贝鲁特美国大学就诊的被诊断患有乳腺癌或卵巢癌的伊拉克患者进行的回顾性研究。

结果

在我们机构接受基因检测的 42 名伊拉克女性中,发现了 3 种 BRCA 致病性变异。BRCA1 中的 2 种突变 c.224_227delAAAG 和 c.5431C>T,以及 BRCA2 中的 1 种突变 c.5576_5579delTTAA。另外 3 名患者的序列变化被认为是意义未明的变异。

结论

在这组高危患者中,检测到的 3 种致病性 BRCA 变异中有 1 种以前并未在中东人群中报道过。需要进一步研究以描绘伊拉克人群中 BRCA 突变的谱。

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