Pic 6. HRD score analysis of HiSNP Ultra Panel v1.0 with HRD standards. DNA libraries were prepared using the NadPrep DNA Library Preparation Kit (for Illumina®). All the WGS, WES (Exome Plus Panel v2.0) and HiSNP Ultra can be applied for HRD score analysis. Compared with WES, the...
而facets、sequenza 和 TITAN 则使用 scarHRD 分析 HRD Score。从 HRD 分析结果来看,Tg-NGS 和 WGS 的 HRD 检测结果趋势判断与标准品参考值相一致(图2)。Tg-NGS 的 HRD 分析中,采用 sequenza (scarHRD 内置)分析 ASCN 值进而判断 HRD Score 的方法较符合参考值。而 WGS 的 HRD 分析采用经典 WGS CNV 检测...
表现为HRD的肿瘤DNA由于基因修复缺陷,损伤积累后会在基因组上留下特定的、可量化的基因组改变,称为“基因组瘢痕”,形式体现为杂合性缺失(LOH)、端粒等位基因不平衡(TAI)、大片段迁移(LST),综合三者计算基因组不稳定评分(genomic instability score,GIS)就能更全面地反映基因组瘢痕状态,也就是所谓的HRD评分(图4)...
细胞DNA损伤主要可分为DNA单链断裂(single strand break, SSB)和DNA双链断裂(double strand break, DSB),其中SSB主要依赖于多聚腺苷二磷酸核糖聚合酶(poly ADP-ribose polymerase, PARP)进行核苷酸切除修复(nucleotide excision repair, NER)、碱基切除修复(base excision repair, BER)和错配修复(mismatch repair, MM...
允英NGS-HRD 通过同源重组通路基因检测与HRD Score联合检测,双维度相互验证。 通过检测杂合性缺失(LOH)、端粒等位基因失衡(TAI)及大片段移位(LST)综合得分来评估HRD状态,同时还提供包括BRCA1/2等HRR相关基因的检测结果,全面评估卵巢癌等患...
✓ 允英NGS-HRD 通过同源重组通路基因检测与HRD Score联合检测,双维度相互验证。 通过检测杂合性缺失(LOH)、端粒等位基因失衡(TAI)及大片段移位(LST)综合得分来评估HRD状态,同时还提供包括BRCA1/2等HRR相关基因的检测结果,全面评估卵巢癌等患者对PARP抑制剂的敏感性。
The homologous recombination deficiency (HRD) score integrates three DNA-based measures of genomic instability, and has been understudied in prostate cancer. Given the recent FDA approval of two PARP inhibitors for prostate cancer, HRD score analysis could help to refine treatment selection. We ...
There was a positive correlation (Spearman's rho=0.425, p=0.001) between the number of mutations attributed to ms3 and HRD score.Conclusions: The range and distribution of HRD scores in our OS cohort closely resemble BRCA1/2 deficient breast cancer. Patients with metastatic disease at diagnosis...
tBRCA1/2 status and LOH score, HRD positive indicates the presence of a deleterious orsuspected deleterious BRCA mutation or LOH score ≥0.4). The remaining formalin fixation and paraffin embedded samples were used for PD...
HRD 通常指细胞水平的 HRR 障碍状态,HRD 会产生可量化的、稳定的基因组改变,目前主要通过 LOH、TAI 和 LST 3 个指标的综合检测得出 基因组不稳定评分(genomic instability score,GIS),临床实践中以BRCA1/2基因致病性突变与GIS评估肿瘤HRD状态。鉴于HRR通路以及细胞信号通路的复杂性,通过临床检测方法实现肿瘤细胞 HRD...