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海湾合作委员会国家的乳腺癌:聚焦于 BRCA1/2 和非 BRCA1/2 基因。

Breast cancer in the GCC countries: A focus on BRCA1/2 and non-BRCA1/2 genes.

机构信息

Department of Biomedical Sciences, College of Health and Sciences, Qatar University, Doha, Qatar.

Department of Biomedical Sciences, College of Health and Sciences, Qatar University, Doha, Qatar.

出版信息

Gene. 2018 Aug 20;668:73-76. doi: 10.1016/j.gene.2018.05.045. Epub 2018 May 17.

DOI:10.1016/j.gene.2018.05.045
PMID:29777908
Abstract

The GCC is an economic alliance of six Arab countries, including Bahrain, Kuwait, Oman, Qatar, Saudi Arabia, and United Arab Emirates (UAE). The rate of endogamous marriage among the GCC countries is approaching 100%, with very high consanguineous marriage rates. Although breast cancer is on the rise in the GCC countries, there are dearth of studies reporting on the genetic epidemiology of breast cancer. In this study, we investigated the frequency of BRCA1/2 and non-BRCA1/2 mutations in breast cancer patients in the GCC countries. BRCA1/2 mutations seem not to be significantly involved in hereditary breast cancer in the GCC countries, which is the most reported form of cancer in Oman, however no available data about the BRCA1/2 mutations role in breast cancer in the UAE. Mutations in more than 30 non-BRCA1/2 genes were reported to be associated with breast cancer patients in the GCC countries, some with comparable frequencies to the BRCA1/2 genes. Arab patients with breast cancer showed advanced stages of cancer and younger ages of onset compared to other Western countries. The Arab genome project pioneered by Saudi Arabia, followed by Qatar, Kuwait, and UAE, will help in the identification of new biomarkers for breast cancer that will be a target for new therapeutics and is expected to improve the prognosis of the disease. However, there is an urgent need for extensive well-controlled genetic epidemiological studies to provide accurate estimates of the frequency of genetic variants in both BRCA1/2 and non-BRCA1/2 among patients with breast cancer in the Gulf States, to provide better care and genetic counseling for Arab patients with predisposing genetic mutations to breast cancer.

摘要

海湾合作委员会(GCC)是由六个阿拉伯国家组成的经济联盟,包括巴林、科威特、阿曼、卡塔尔、沙特阿拉伯和阿拉伯联合酋长国(UAE)。GCC 国家的内婚率接近 100%,近亲结婚率非常高。尽管乳腺癌在 GCC 国家呈上升趋势,但几乎没有研究报告乳腺癌的遗传流行病学。在这项研究中,我们调查了 GCC 国家乳腺癌患者中 BRCA1/2 和非 BRCA1/2 突变的频率。BRCA1/2 突变似乎并未明显参与 GCC 国家的遗传性乳腺癌,这是阿曼最常见的癌症形式,但关于阿联酋 BRCA1/2 突变在乳腺癌中的作用尚无可用数据。报告称,GCC 国家的乳腺癌患者中存在 30 多种非 BRCA1/2 基因突变,其中一些与 BRCA1/2 基因的频率相当。与其他西方国家相比,阿拉伯乳腺癌患者的癌症分期较晚,发病年龄较小。沙特阿拉伯率先开展的阿拉伯基因组计划,随后是卡塔尔、科威特和阿联酋,将有助于确定乳腺癌的新生物标志物,这将成为新疗法的靶点,并有望改善该疾病的预后。然而,迫切需要广泛的、对照良好的遗传流行病学研究,以提供海湾国家乳腺癌患者中 BRCA1/2 和非 BRCA1/2 基因遗传变异频率的准确估计,为具有乳腺癌易感性遗传突变的阿拉伯患者提供更好的护理和遗传咨询。

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