中国肿瘤生物治疗杂志2023，Vol.30Issue(12)：1082-1087,6.DOI:10.3872/j.issn.1007-385x.2023.12.007
云南地区卵巢癌患者的基因同源重组缺陷状态和BRCA1/2基因突变频率及其临床意义
The status of homologous recombination deficiency and BRCA1/2 gene mutation in ovarian cancer patients in the Yunnan region and their clinical significance
摘要
Abstract
Objective:To evaluate the HRD(homologous recombination deficiency)status of ovarian cancer patients in the Yunnan region using a HRD detection system developed on polymorphic loci specific to the Chinese population.Methods:A total of 248 ovarian cancer patients admitted to the Yunnan Tumor Hospital between January 2021 and May 2023 were included in this study.The HRD status was evaluated using either the Genomic Scar Score(GSS),which is primarily based on copy number length,type,location,and genomic breakpoints,or the HRD score(a combination of three genomic instability events:allelic loss of heterozygosity(LOH),telomeric allelic imbalance(TAI),and large-scale state transitions(LST)).HRD was defined as positive when the tissue sample had a GSS≥50 or HRD≥42 score,or when harmful BRCA1/2 gene mutation was detected.Results:The study showed that approximately 70.97%of the 248 ovarian cancer patients had a positive HRD status,with a BRCA1/2 gene mutation rate of 30.65%.Stage Ⅲ to Ⅵstage patients and patients with high-grade serous adenocarcinoma had a higher HRD positivity rate(both P<0.01),and patients with higher HRD scores had a higher frequency of co-occurring other gene mutations(P<0.05).HRD status was associated with pathlogical type,clinical stage and other gene mutations in ovarian cancar(all P<0.01).Conclusion:Ovarian cancer patients in the Yunnan region have a high HRD positivity rate,suggesting that a significant proportion of ovarian cancer patients in this region may benefit from treatment with poly(ADP-ribose)polymerase(PARP)inhibitors.关键词
卵巢癌/云南地区/同源重组缺陷(HRD)/基因组瘢痕评分(GSS)/HRD评分/BRCA1基因/BRCA2基因Key words
ovarian cancer/Yunnan region/homologous recombination deficiency(HRD)/genomic scar score(GSS)/HRD score/BRCA1 gene/BRCA2 gene分类
医药卫生引用本文复制引用
蔡静静,杜亚茜,兰云意,沈绍聪,杨锐娇,吴顺先,刘俊熙,周永春,刘馨,李卓颖,韩婷婷,郭银金,马露瑶,王晓雄,李鸿生,李权..云南地区卵巢癌患者的基因同源重组缺陷状态和BRCA1/2基因突变频率及其临床意义[J].中国肿瘤生物治疗杂志,2023,30(12):1082-1087,6.基金项目
云南省教育厅科学研究基金(No.2023J0276) （No.2023J0276）
云南省肺癌研究重点实验室基金(No.CZ0049) （No.CZ0049）
