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患有前列腺癌的非裔美国男性中遗传性DNA修复基因突变。

Inherited DNA-repair gene mutations in African American men with prostate cancer.

作者信息

Sartor Oliver, Yang Shan, Ledet Elisa, Moses Marcus, Nicolosi Piper

机构信息

Tulane Cancer Center, Tulane University of School of Medicine, New Orleans, Louisiana, United States.

Invitae Corporation, Genetics, San Francisco, California, United States.

出版信息

Oncotarget. 2020 Jan 28;11(4):440-442. doi: 10.18632/oncotarget.27456.

Abstract

African American men with prostate cancer are understudied relative to Caucasians with prostate cancer with regard to testing for pathogenic germline DNA repair gene mutations. Herein we evaluate these two populations in a large commercial dataset and compare the detection of pathogenic/likely pathogenic alterations in 14 well annotated DNA repair genes (BRCA2, BRCA1, PALB2, ATM, RAD51C, CHEK2, PMS2, BARD1, BRIP1, MLH1, MSH2, MSH6, NBN, and RAD51D). Overall, pathogenic or likely pathogenic alterations in these 14 DNA repair genes were less likely to be detected in African Americans as compared to Caucasians. Upon a more in-depth analysis, the risk of germline pathogenic/likely pathogenic BRCA mutations was similar between the two populations whereas there was a lower risk among African Americans for the non-BRCA mutations. No African American men were noted to have mutations in BARD1, BRIP1, MLH1, MSH2, MSH6, NBN, and RAD51D in this data set. Stage, grade, and metastatic status were not assessed in this group of patients. Larger and more detailed studies conducted in men with prostate cancer are required to confirm these findings.

摘要

与患有前列腺癌的高加索人相比,针对致病种系DNA修复基因突变检测方面,患有前列腺癌的非裔美国男性的研究较少。在此,我们在一个大型商业数据集中评估这两个人群,并比较14个注释良好的DNA修复基因(BRCA2、BRCA1、PALB2、ATM、RAD51C、CHEK2、PMS2、BARD1、BRIP1、MLH1、MSH2、MSH6、NBN和RAD51D)中致病/可能致病改变的检测情况。总体而言,与高加索人相比,非裔美国人中这14个DNA修复基因的致病或可能致病改变的检出可能性较小。经过更深入的分析,两个人群中种系致病/可能致病BRCA突变的风险相似,而非裔美国人中非BRCA突变的风险较低。在该数据集中,未发现非裔美国男性在BARD1、BRIP1、MLH1、MSH2、MSH6、NBN和RAD51D中有突变。该组患者未评估分期、分级和转移状态。需要对前列腺癌男性进行更大规模、更详细的研究来证实这些发现。

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