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阿联酋基因阳性乳腺癌的临床病理特征。

Clinicopathological characteristics of gene-positive breast cancer in the United Arab Emirates.

机构信息

ACGME - Accredited General Surgery Residency Program, Tawam Hospital, Abu Dhabi, United Arab Emirates.

Department of Breast Surgery, Tawam Hospital, Al Ain, Abu Dhabi, United Arab Emirates.

出版信息

Breast. 2020 Oct;53:119-124. doi: 10.1016/j.breast.2020.07.005. Epub 2020 Jul 27.

Abstract

INTRODUCTION

Breast cancer is the most prevalent cancer in the United Arab Emirates (UAE). This is the first study to provide data on predisposition of breast cancer susceptibility genes with associated clinical and pathological aspects in the UAE.

MATERIAL & METHODS: A retrospective chart review for breast cancer patients undergoing genetic testing from 2016 to 2018. According to National Comprehensive Cancer Network (NCCN) guidelines genetic testing was offered. The analyzed data included; age, ethnicity, family cancer history, pathogenic variant, histopathology, stage, molecular subtype and proliferation.

RESULTS

309 patients underwent genetic testing with a positive result in 130 patients (11.9%) over a period of 36 months. In 34.6% pathogenic and likely pathogenic variants were identified. BRCA2 was the most common gene identified. The mean age was 42.9 years (±9.01). Positive family history was identified in 66 patients (50.7%). Majority had stage 1 or 2 disease (66.2%), invasive ductal carcinoma (81.5%) and hormone receptor positive cancer (45.3%).

CONCLUSIONS

This is the first study in the UAE to describe the clinical and pathological characteristics of hereditary breast cancer in a mixed ethnic group with dominant Arabic population. Further genetic studies will be required in the UAE population, as the prevalence of breast cancer continues to rise.

摘要

简介

乳腺癌是阿拉伯联合酋长国(阿联酋)最常见的癌症。这是第一项提供与阿联酋乳腺癌易感性基因相关临床和病理方面数据的研究。

材料与方法

对 2016 年至 2018 年期间接受基因检测的乳腺癌患者进行回顾性图表审查。根据国家综合癌症网络(NCCN)指南提供基因检测。分析的数据包括:年龄、种族、家族癌症史、致病性变异、组织病理学、分期、分子亚型和增殖。

结果

在 36 个月的时间内,有 309 名患者接受了基因检测,其中 130 名患者(11.9%)的检测结果呈阳性。在 34.6%的患者中发现了致病性和可能致病性的变异。BRCA2 是最常见的基因。平均年龄为 42.9 岁(±9.01)。有 66 名患者(50.7%)有阳性家族史。大多数患者处于 1 期或 2 期疾病(66.2%)、浸润性导管癌(81.5%)和激素受体阳性癌症(45.3%)。

结论

这是阿联酋第一项描述以阿拉伯裔为主的混合种族遗传性乳腺癌的临床和病理特征的研究。由于乳腺癌的患病率持续上升,阿联酋人群还需要进一步的遗传研究。

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