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胚系 DNA 修复基因在墨西哥前列腺癌患者中的致病性变异。

Germline DNA Repair Genes Pathogenic Variants Among Mexican Patients With Prostate Cancer.

机构信息

Department of Hematology and Oncology, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

Hemato-Oncology Department, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.

出版信息

Clin Genitourin Cancer. 2023 Oct;21(5):569-573. doi: 10.1016/j.clgc.2023.05.012. Epub 2023 May 23.

Abstract

BACKGROUND

Early identification of germline mutation carriers may be relevant for the optimal management of prostate cancer and to inform cancer risk in relatives. However, population minorities have limited access to genetic testing. The aim of this study was to describe the frequency of DNA repair gene pathogenic variants (PVs) among Mexican men with prostate cancer referred for Genomic Cancer Risk Assessment and testing.

METHODS

Patients diagnosed with prostate cancer who meet criteria for genetic testing and enrolled in the Clinical Cancer Genomics Community Research Network at the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán in Mexico City were included. Descriptive statistics were performed using frequency and proportions for categorical variables and median and range for quantitative variables. X and t test were used for group comparisons.

RESULTS

A total of 199 men were enrolled, median age at diagnosis was 66 (range 44-88) years; 45% were de novo metastatic and 44% were high- very high and 10% were intermediate risk group. Four (2%) had a pathogenic germline variant; one each of the following genes: ATM, CHEK2, BRIP1, and MUTYH (all monoallelic). Younger men at diagnosis were more likely to carry a PV than older age at diagnosis (56.7 vs. 66.4 years, P = .01).

CONCLUSION

Our results showed a low prevalence of known prostate cancer associated PVs and no BRCA PVs in Mexican men with prostate cancer. This suggests that the genetic and/or epidemiologic risk factors for prostate cancer are not well characterized in this specific population.

摘要

背景

早期识别种系突变携带者可能与前列腺癌的最佳管理相关,并为亲属的癌症风险提供信息。然而,少数族裔人群获得基因检测的机会有限。本研究的目的是描述在因前列腺癌而接受基因组癌症风险评估和检测的墨西哥男性中,DNA 修复基因致病性变异(PVs)的频率。

方法

符合基因检测标准并参加墨西哥城国立医学和营养研究所萨尔瓦多·祖比兰临床癌症基因组学社区研究网络的前列腺癌患者被纳入研究。使用频率和比例描述分类变量,使用中位数和范围描述定量变量。使用 X 检验和 t 检验进行组间比较。

结果

共纳入 199 名男性,中位诊断年龄为 66(44-88)岁;45%为新发转移性,44%为高-极高风险,10%为中危组。4 名(2%)男性携带致病性种系变异;分别为 ATM、CHEK2、BRIP1 和 MUTYH(均为单等位基因)。诊断时年龄较小的男性比诊断时年龄较大的男性更有可能携带 PV(56.7 岁 vs. 66.4 岁,P = 0.01)。

结论

我们的结果显示,墨西哥男性前列腺癌患者中已知的前列腺癌相关 PVs 发生率较低,且无 BRCA PVs。这表明,该特定人群中前列腺癌的遗传和/或流行病学风险因素尚未得到充分阐明。

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