Breast Cancer Genes in Mexican Populations

描述（由申请人提供）： 乳腺癌是女性最常见的恶性肿瘤。其发病率较低 西班牙裔女性比非西班牙裔白人女性，但 西班牙裔妇女更有可能死于这种疾病，因为诊断在 后期阶段。针对高危妇女进行筛查可能是一种有效的方法， 改善这一群体的卫生保健。遗传因素，主要是 BRCA1和BRCA2的突变被认为至少占5%， 在拉美裔人中很少受到关注。 在这个建议中，我们将定义BRCA 1和2的突变谱， 北美西班牙裔人口。这项研究将侧重于墨西哥混血儿 （西班牙语和美洲原住民的混合），因为大多数美国西班牙裔是墨西哥人。 混血血统。在初步研究中，我们对大量BRCA进行了分类， 西班牙人的基因突变，我们将确定这些突变中是否有任何一个 在北美，突变以高频率的创始者突变存在， 西班牙裔我们将测试没有突变的高风险墨西哥家庭， 其他变异的西班牙血统。如果突变谱是有限的 高风险家族，BRCA突变的频率在一个乳腺癌 癌症群体将通过筛选特定突变来估计。的 该项目还将确定一组西班牙裔BRCA 突变载体，用于研究修饰基因和环境因素。

DESCRIPTION (provided by applicant): Breast cancer is the most common malignancy in women. Its incidence is lower among Hispanic women than among Caucasian women of non-Hispanic origin, but Hispanic women are more likely to die from the disease because of diagnosis at a later stage. Targeting high risk women for screening may be an effective means of improving health care in this group. Genetic factors, mainly mutations in BRCA1 and BRCA2, are believed to account for at least 5 percent of breast cancer and have received very little attention in Hispanics. In this proposal we will define the mutational spectrum of BRCA1 and 2 in a North American Hispanic population. The study will focus on Mexican Mestizos (mixed Spanish and Native American) because most U.S. Hispanics are of Mexican Mestizo origin. In preliminary studies we cataloged a large number of BRCA mutations from a Spanish population, and we will determine if any of these mutations are present as high frequency, founder mutations in North American Hispanics. We will test high risk Mexican families without mutations of Spanish origin for other mutations. If the mutational spectrum is limited in high risk families, the frequency of BRCA mutations in an unselected breast cancer population will be estimated by screening for specific mutations. The project will also result in ascertainment of a cohort of Hispanic BRCA mutation carriers for studies of modifying genes and environmental factors.