Department of Obstetrics and Gynecology, Carol Davila University of Medicine and Pharmacy, Bucharest, Romania.
Department of Obstetrics and Gynecology, Alessandrescu-Rusescu National Institute of Mother and Child Health, Bucharest, Romania.
J Med Life. 2024 Jun;17(6):564-573. doi: 10.25122/jml-2024-0313.
Endometrial cancer is a complex disease influenced by both somatic and germline mutations. While individual mutations in genes such as , and members of the DNA mismatch repair (MMR) system have been extensively studied, comprehensive analyses comparing somatic and germline mutations within the same cohort are limited. This study compares these mutations using whole exome sequencing (WES) data from tumor and blood samples in patients with endometrial cancer. Thirteen female patients with histologically confirmed endometrial cancer were selected. Tumor tissues and matched blood samples were collected and subjected to WES at the CeGaT laboratory, followed by bioinformatics analysis and annotation using the Geneyx platform. WES revealed significant somatic and germline DNA mutations, with key pathogenic variants identified in genes such as , and . Comparative analysis showed distinct and overlapping mutation profiles, highlighting the importance of integrating somatic and germline data in endometrial cancer research.
子宫内膜癌是一种受体细胞和种系突变影响的复杂疾病。虽然已经广泛研究了 等基因和 DNA 错配修复 (MMR) 系统成员中的个体突变，但在同一队列中比较体细胞和种系突变的综合分析仍然有限。本研究使用子宫内膜癌患者的肿瘤和血液样本的全外显子组测序 (WES) 数据比较了这些突变。选择了 13 名经组织学证实患有子宫内膜癌的女性患者。收集肿瘤组织和匹配的血液样本，并在 CeGaT 实验室进行 WES，然后使用 Geneyx 平台进行生物信息学分析和注释。WES 揭示了显著的体细胞和种系 DNA 突变，在 等基因中发现了关键的致病性变异。比较分析显示了不同但重叠的突变谱，突出了整合体细胞和种系数据在子宫内膜癌研究中的重要性。
