由于种族原因，前列腺腺癌 (PRAD) 患者的健康差异已凸显出来。墨西哥男性的疾病比其他患者更具侵袭性，导致治疗结果较差。我们的目的是确定突变景观，这有助于减少少数群体之间的健康差异，并在墨西哥患者中开展第一个 PRAD 基因组学探索性研究。石蜡包埋的福尔马林固定肿瘤组织来自 20 名接受过治疗的早期 PRAD 墨西哥患者。对墨西哥城国家癌症研究所 2017 年至 2019 年进行了分析。准备肿瘤 DNA 进行全外显子组测序，使用 BWA-MEM 将所得文件与 h19 进行比对。 Strelka2 和 Lancet 软件包用于识别单核苷酸变异 (SNV) 以及插入或删除。 FACETS 用于确定体细胞拷贝数改变 (SCNA)。癌症基因组解释器网络界面用于确定变异的临床相关性。患者处于早期临床阶段，平均年龄为 59.55 岁（标准差 [SD]：7.1 岁），其中 90% 的格里森评分为7. 随访时间为 48.50 个月（SD：32.77），分别有 30% 和 15% 的患者出现复发和进展。 NUP98 (20%)、CSMD3 (15%) 和 FAT1 (15%) 是最常受 SNV 影响的基因； ARAF (75%) 和 ZNF419 (70%) 最常受到 SNCA 损失和收益的影响。四分之一的患者存在可用作 PARP 抑制剂生物标志物的突变，其中包括 BRCA、RAD54L 和 ATM 突变。 SBS05、DBS03 和 ID08 是该队列中最常见的突变特征。未发现与复发或进展的关联。这项初步研究揭示了墨西哥男性早期前列腺腺癌的突变情况，提供了了解早期前列腺癌突变模式和可操作突变的第一种方法，可以为个性化治疗方法提供信息并减少基因组癌症研究中的代表性不足。© 2024。这是美国政府的作品，在美国不受版权保护；外国版权保护可能适用。

Health disparities have been highlighted among patient with prostate adenocarcinoma (PRAD) due to ethnicity. Mexican men present a more aggressive disease than other patients resulting in less favorable treatment outcome. We aimed to identify the mutational landscape which could help to reduce the health disparities among minority groups and generate the first genomics exploratory study of PRAD in Mexican patients.Paraffin-embedded formalin-fixed tumoral tissue from 20 Mexican patients with early-stage PRAD treated at The Instituto Nacional de Cancerología, Mexico City from 2017 to 2019 were analyzed. Tumoral DNA was prepared for whole exome sequencing, the resulting files were mapped against h19 using BWA-MEM. Strelka2 and Lancet packages were used to identify single nucleotide variants (SNV) and insertions or deletions. FACETS was used to determine somatic copy number alterations (SCNA). Cancer Genome Interpreter web interface was used to determine the clinical relevance of variants.Patients were in an early clinical stage and had a mean age of 59.55 years (standard deviation [SD]: 7.1 years) with 90% of them having a Gleason Score of 7. Follow-up time was 48.50 months (SD: 32.77) with recurrences and progression in 30% and 15% of the patients, respectively. NUP98 (20%), CSMD3 (15%) and FAT1 (15%) were the genes most frequently affected by SNV; ARAF (75%) and ZNF419 (70%) were the most frequently affected by losses and gains SNCA's. One quarter of the patients had mutations useful as biomarkers for the use of PARP inhibitors, they comprise mutations in BRCA, RAD54L and ATM. SBS05, DBS03 and ID08 were the most common mutational signatures present in this cohort. No associations with recurrence or progression were identified.This pilot study reveals the mutational landscape of early-stage prostate adenocarcinoma in Mexican men, providing a first approach to understand the mutational patterns and actionable mutations in early prostate cancer can inform personalized treatment approaches and reduce the underrepresentation in genomic cancer studies.© 2024. This is a U.S. Government work and not under copyright protection in the US; foreign copyright protection may apply.