Merck & Co., Inc., Rahway, NJ 07065, USA.
Future Oncol. 2024;20(31):2357-2370. doi: 10.1080/14796694.2024.2367957. Epub 2024 Jul 16.
To determine the prevalence of deleterious mutations in and and in 13 genes involved in homologous recombination repair (HRR), the prevalence of genomic loss of heterozygosity and the allelic and hereditary status of , and other HRR gene mutations in multiple solid tumor types. This was a retrospective observational study of patients with an advanced/metastatic diagnosis in one of 15 solid tumor types, who were identified in a real-world clinico-genomic database. Tumor tissue samples from 9457 patients were analyzed, among which 4.7% had known or suspected deleterious mutations. The prevalence (range) of mutations in HRR genes was 13.6% (2.4%-26.0%) and genomic loss of heterozygosity ≥16% was 20.6% (2.6-34.4%) across all tumor types. The prevalence of mutations varied significantly depending on the type of tumor.
为了确定 和 中有害突变的流行率,以及同源重组修复(HRR)中 13 个基因的基因组杂合性丢失的流行率,以及 的等位基因和遗传状态,和其他 HRR 基因突变在多种实体瘤类型中的情况。这是一项回顾性观察研究,纳入了在 15 种实体瘤类型之一中诊断为晚期/转移性的患者,这些患者是在真实世界的临床基因组数据库中确定的。对 9457 名患者的肿瘤组织样本进行了分析,其中 4.7%有已知或疑似的有害 突变。所有肿瘤类型中 HRR 基因突变的流行率(范围)为 13.6%(2.4%-26.0%),杂合性丢失≥16%的基因组丢失率为 20.6%(2.6-34.4%)。突变的流行率因肿瘤类型而异。