研究子宫肉瘤患者中同源重组DNA损伤应答（HR-DDR）基因组改变的发生率。我们访问了美国癌症研究协会GENIE v13.0数据库，并确定了子宫平滑肌肉瘤、腺肌瘤、未分化子宫肉瘤、高级别子宫内膜间质肉瘤、低级别子宫内膜间质肉瘤和未指定的子宫内膜间质肉瘤患者。我们确定了以下与HR-DDR有关基因的致病改变发生率：ATM、ARID1A、ATRX、BAP1、BARD1、BLM、BRCA2、BRCA1、BRIP1、CHEK2、CHEK1、FANCA、FANCC、FANCD2、FANCE、FANCF、FANCG、FANCL、MRE11、NBN、PALB2、RAD50、RAD51、RAD51B、RAD51C、RAD51D、WRN。我们利用OncoKB数据库提供的数据来确定致病基因组改变的存在情况。我们共鉴定了509名患者贡献了525个样本。样本采集时患者的中位年龄为56岁，大部分患者为白人（80.7%）。最常见的组织学亚型是平滑肌肉瘤（63.8%），其次是腺肌瘤（12.3%）。HR-DDR基因组改变的总体发生率为28.2%。最常见的改变基因是ATRX（18.2%）、BRCA2（4%）和RAD51B（2.6%）。HR-DDR基因组改变的发生率最高的是平滑肌肉瘤（35.4%）、腺肌瘤（27%）和未分化子宫肉瘤（30%），而低级别子宫内膜间质肉瘤的发生率最低（2.9%）。大约三分之一的子宫肉瘤患者携带HR-DDR基因的致病变异。在子宫平滑肌肉瘤和腺肌瘤患者中，发生率较高。版权所有 © 2023 Elsevier Inc. 保留所有权利。

Investigate the incidence of homologous recombination DNA damage response (HR-DDR) genomic alterations among patients with uterine sarcoma.The American Association for Cancer Research GENIE v13.0 database was accessed and patients with uterine leiomyosarcoma, adenosarcoma, undifferentiated uterine sarcoma, high-grade endometrial stromal sarcoma, low-grade endometrial stromal sarcoma, and endometrial stromal sarcoma not otherwise specified were identified. We determined the incidence of pathogenic alterations in the following genes involved in HR-DDR: ATM, ARID1A, ATRX, BAP1, BARD1, BLM, BRCA2, BRCA1, BRIP1, CHEK2, CHEK1, FANCA, FANCC, FANCD2, FANCE, FANCF, FANCG, FANCL, MRE11, NBN, PALB2, RAD50, RAD51, RAD51B, RAD51C, RAD51D, WRN. Data from the OncoKB database, as provided by cBioPortal, was utilized to determine the presence of pathogenic genomic alterations.A total of 509 patients contributing with 525 samples were identified. Median patient age at sample collection was 56 years while the majority were White (80.7%). The most common histologic subtype was leiomyosarcoma (63.8%) followed by adenosarcoma (12.3%). The overall incidence of HR-DDR genomic alterations was 28.2%. The most commonly altered genes were ATRX (18.2%), BRCA2 (4%), and RAD51B (2.6%). The highest incidence of HR-DDR genomic alterations was observed among patients with leiomyosarcoma (35.4%), adenosarcoma (27%) and undifferentiated uterine sarcoma (30%), while those with low-grade endometrial stromal sarcoma had the lowest (2.9%) incidence.Approximately 1 in 3 patients with uterine sarcoma harbor a pathogenic alteration in HR-DDR genes. Incidence is high among patients with uterine leiomyosarcoma and adenosarcoma.Copyright © 2023 Elsevier Inc. All rights reserved.