Ramamurthy Chethan, Stutz Eric W, Goros Martin, Gelfond Jonathan, Johnson-Pais Teresa L, Thompson Ian M, Leach Robin J, Liss Michael A
Department of Medical Oncology, University of Texas Health San Antonio, San Antonio, TX.
Department of Epidemiology and Biostatistics, University of Texas Health San Antonio, San Antonio, TX.
Clin Genitourin Cancer. 2022 Jun;20(3):237-243. doi: 10.1016/j.clgc.2022.01.008. Epub 2022 Jan 14.
Mutations in several common hereditary cancer genes are associated with prostate cancer, but there is limited information on the prevalence of these mutations in Hispanic men.
We selected men at high risk for genetic mutations from 1515 Hispanic men enrolled in the San Antonio Biomarkers of Risk for prostate cancer (SABOR) cohort. Inclusion criteria included men with a diagnosis of prostate cancer or a first-degree family history of prostate cancer. We performed germline genetic testing using the Color Genomics platform, sequencing 30 genes associated with hereditary cancer risk. Additionally, we assessed ancestral informative markers to determine the admixture of the ethnically unique cohort.
Of the 275 subjects who met selection criteria, 263 patients had sufficient samples for sequencing. We identified 3.8% of patients (10 of 263) with a pathogenic or likely pathogenic mutation in the 30 genes tested, of whom 70% would not have met established criteria for genetic testing. Six of these mutations were in BRCA1/2 or ATM. There was a significant inverse association between the percentage of Native American ancestry and the risk of prostate cancer, OR 0.11 (95% CI 0.02-0.76, P = .025).
Hispanic men with either a personal or family history of prostate cancer carry mutations in hereditary cancer genes at a significant rate, on par with non-Hispanic counterparts with similar risk factors.
几种常见遗传性癌症基因的突变与前列腺癌相关，但关于这些突变在西班牙裔男性中的流行情况信息有限。
我们从参与圣安东尼奥前列腺癌风险生物标志物（SABOR）队列研究的1515名西班牙裔男性中选取有基因突变高风险的男性。纳入标准包括诊断为前列腺癌或有前列腺癌一级家族史的男性。我们使用Color Genomics平台进行种系基因检测，对30个与遗传性癌症风险相关的基因进行测序。此外，我们评估祖先信息标记物以确定这个具有独特种族构成的队列的混合情况。
在符合选择标准的275名受试者中，263名患者有足够的样本用于测序。我们在检测的30个基因中发现3.8%的患者（263名中的10名）有致病性或可能致病性突变，其中70%不符合既定的基因检测标准。这些突变中有6个在BRCA1/2或ATM基因中。美洲原住民血统的百分比与前列腺癌风险之间存在显著的负相关，比值比为0.11（95%置信区间0.02 - 0.76，P = 0.025）。
有前列腺癌个人史或家族史的西班牙裔男性携带遗传性癌症基因的突变率较高，与具有相似风险因素的非西班牙裔男性相当。
