Nahleh Zeina, Otoukesh Salman, Dwivedi Alok Kumar, Mallawaarachchi Indika, Sanchez Luis, Saldivar J Salvador, Cataneda Kayla, Heydarian Rosalinda
Department of Internal Medicine, Division of Hematology and Oncology, Texas Tech University Health Sciences Center El Paso, TX, USA.
Department of Biomedical Sciences, Division of Epidemiology and Biostatics, Texas Tech University Health Sciences Center El Paso, TX, USA.
Am J Cancer Res. 2014 Dec 15;5(1):466-71. eCollection 2015.
Hispanics in El Paso, TX, a large American-Mexican border city constitute 85% of the population. Limited cancer research has been conducted in this population. We sought to study the prevalence of BRCA mutations among Hispanic patients of Mexican origin, identify reported Mexican founder or recurrent mutations, and study the breast cancer characteristics in mutation carriers.
Hispanic women of Mexican descent with a personal history of breast cancer, who presented consecutively for genetic cancer risk assessment, were enrolled in an Institutional Review Board-approved registry and underwent BRCA testing based on national guidelines. The characteristics of tumors and patients with positive BRCA mutation were analyzed.
88 patients were screened; 18 patients (20%) were BRCA carriers. Among BRCA carriers, 72% were diagnosed with breast cancer at younger than 50 years, 61% had "Triple negative disease". BRCA carriers had a significantly higher Body Mass Index (BMI) than non-carriers. Thirteen patients had BRCA1 mutations and five had BRCA2 mutations. A total of 17 deleterious BRCA Mutations were observed. Seven have been previously reported as specific genes from Mexico as country of origin. Five new mutations in BRCA carriers of Mexican descent were identified.
Hispanic breast cancer patients of Mexican origin present at a younger age, and have predominantly triple negative tumors and high BMI. We identified 5 new mutations not reported previously in Hispanic BRCA carriers of Mexican descent. Interestingly, 41% of BRCA mutations identified have been reported as recurrent mutations in Hispanic individuals from Mexico as the country of origin. A more cost-effective approach to initial screening of Hispanic individuals based on country of origin is desirable and would potentially decrease the number of cases requiring complete sequencing.
得克萨斯州埃尔帕索是一座美墨边境的大型城市，其中西班牙裔占人口的85%。针对这一人群开展的癌症研究有限。我们试图研究墨西哥裔西班牙裔患者中BRCA突变的患病率，确定已报道的墨西哥始祖或复发性突变，并研究突变携带者的乳腺癌特征。
有乳腺癌个人史的墨西哥裔西班牙裔女性，连续前来进行遗传性癌症风险评估，被纳入机构审查委员会批准的登记册，并根据国家指南接受BRCA检测。分析了肿瘤和BRCA突变阳性患者的特征。
共筛查了88例患者；18例患者（20%）为BRCA携带者。在BRCA携带者中，72%在50岁之前被诊断为乳腺癌，61%患有“三阴性疾病”。BRCA携带者的体重指数（BMI）显著高于非携带者。13例患者有BRCA1突变，5例有BRCA2突变。共观察到17种有害的BRCA突变。其中7种先前已作为来自墨西哥的特定基因报道过。在墨西哥裔BRCA携带者中发现了5种新突变。
墨西哥裔西班牙裔乳腺癌患者发病年龄较轻，主要为三阴性肿瘤，BMI较高。我们发现了5种先前未在墨西哥裔西班牙裔BRCA携带者中报道过的新突变。有趣的是，所发现的BRCA突变中有41%已被报道为来自墨西哥原籍的西班牙裔个体中的复发性突变。基于原籍国对西班牙裔个体进行更具成本效益的初始筛查方法是可取的，这可能会减少需要进行全序列测序的病例数量。
