新疆地区BRCA1和BRCA2基因突变与乳腺癌临床病理标准的研究

Maha Shakir Hasan
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摘要

乳腺癌是伊拉克最常见的恶性肿瘤。因此,我们在Thi Qar省患者中研究与该病相关的危险因素。如乳腺癌易感基因1和2 (BRCA1和BRCA2)的突变,临床病理参数(年龄、家族史、肿瘤部位)。在此期间(2014年8月至2017年4月),从Al-Hussain教学医院和Al-Habboby医院肿瘤科就诊的患者中采集了85份血液样本,从健康女性中采集了50份血液样本作为对照。血液样本被用于基因研究。在组织病理学分析方面,我们收集了50例乳腺癌手术切除(乳房切除术)患者的组织样本,制备了用于组织病理学诊断的石蜡包埋块。本研究结果显示,40-49岁年龄组乳腺癌发病率最高(41%),各年龄组间差异有统计学意义(P≤0.01)。有乳腺癌家族史的人患乳腺癌的风险很大。本研究显示,31例(36.47%)乳腺癌家族史为阳性,54例(63.52%)乳腺癌家族史为阴性。本研究结果显示,34例(41.5%)头胎发生在20-29岁年龄组,18例(23.37%)头胎发生在15-19岁和30-39岁年龄组,7例患者和对照组中BRCA1/2基因突变分子检测。85例乳腺癌患者血清BRCA1/2基因突变的多重PCR检测结果显示;6例(7.05%)患者检测到BRCA1基因(185 del AG)突变,2例(2.35%)患者检测到BRCA1基因(5382 in C)突变。3例患者检测到BRCA2基因(6174 del T)突变(3.52%)。对照组未发现任何类型的基因突变。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Study of BRCA1 and BRCA2 Gene Mutations and Clinicopathological Criteria of Breast Cancer in Thi-Qar.
Breast cancer is the commonest type of malignancy in Iraq. For this reason we study risk factors that associated with this disease in Thi Qar province patients. Such as mutations of breast cancer susceptibility genes 1 and 2 (BRCA1 and BRCA2), clinicopathological parameter ( age, family history and tumor site) . Eighty five blood samples were taken from patients who attended Al-Hussain teaching hospital and oncology unit in Al-Habboby hospital during the period (from August /2014 to April /2017) , fifty blood samples were collected from healthy women as a control. Blood samples were using in genetic study. For histopathological analysis fifty tissue samples were collected from fifty patients with breast cancer who were undergoing surgical resection (mastectomy) to prepare paraffin embedded blocks which have been used for histopathological diagnosis. The present study results revealed that a highest incidence of breast cancer occur in the age group between 40-49 years of age (41%),there is a significant difference among patients age groups (P ≤ 0.01). Family history of breast cancer indicates a strong association with risk of developing breast cancer. The present study showed that family history positive in 31 cases (36.47%), and 54 cases (63.52%) had negative family history of breast cancer. Also the results of present study showed that the 34 cases (41.5%) had first birth at age (20-29years), 18 cases (23.37%) had their first birth in age groups (15-19 years) and (30-39 years), and 7 for the molecular detection of BRCA1/2 gene mutation in patients and control groups. In 85 cases of breast cancer, detection of BRCA1/2 gene mutation by multiplex PCR done for the serum revealed that; (185 del AG) mutation in BRCA1 gene was detected in 6 patients (7.05%), and (5382 ins C) mutation in the same gene was detected in 2 patients (2.35%). Regarding (6174 del T) mutation in BRCA2 gene was detected in 3 patients (3.52%). In the control patients gene mutations of any types didn’t detected.
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