2. 中国抗癌协会肿瘤标志专业委员会遗传性肿瘤标志物协作组等."同源重组修复缺陷临床检测与应用专家共识(2021版)."中国癌症防治杂志2021年13卷4期,329-338页(2021). 3. Heeke, Arielle L et al.“Prevalence of Homologous Recombination...
For those without a mutation in HRD genes (n = 19), 1 patient achieved partial response and 13 achieved stable disease as best response with a mPFS of 4.0 (95% CI 2.9-5.5) months.Conclusions:Venadaparib in combination with irinotecan showed promising efficacy outcomes in patients with mGC,...
Figure 4. Rare, Recurrent DDRGene MutationsDifferentially AlterProtein StructuralStability 结果5:机器学习衍生的表达特征预测TP53失活 TP53功能的丧失在许多癌症类型中具有显著的功能后果,通过与基因组不稳定性相关的高SCNA负荷和高HRDscore对此进行衡量。采用癌症类型和突变负荷构造了TP53分类器预测失活状态,然后用它来...
其他一些MMR和NER基因的改变与HRD评分显著负相关,如MLH1、TCEB3和MSH2,表明HR和MMR或NER缺陷之间存在潜在的互斥关系。 Figure 3. Somatic Copy-Number Alteration Scores in Relation to Clinical Outcomes and DDR Gene Alterations 文章确认了潜在破坏DDR功能的基因融合事件,经过...
In addition to the possible therapeutic implications for the high rates of HRD gene mutations in patients with uterine serous cancers, Ahsan noted that there were also other considerations, including preventive factors. “From a preventive standpoint, uterine serous cancer could be a phenotype of here...
[10] O’MALLEY, DAVID M. Post progression outcomes in patients with ovarian carcinoma associated with a mutation in a nonBRCA homologous recombination repair gene receiving rucaparib maintenance treatment: results from the phase 3 study ARIEL3[C]. SGO 2020 Annual Meeting on Women’s Cancer. SGO...
We evaluated the status of pathogenic HR-gene mutations (HRm): (1) germline vs. somatic HRm; (2) core HRm (cHRm) (BRCA1, BRCA2, PALB2) vs. non-core (ncHRm); (3) zygosity (monoallelic vs. biallelic HRm). Additionally, HRD genetic signatures using large-scale state transition (LST...
[10] O’MALLEY, DAVID M. Post progression outcomes in patients with ovarian carcinoma associated with a mutation in a nonBRCA homologous recombination repair gene receiving rucaparib maintenance treatment: results from the phase 3 study ARIEL3[C]. SGO 2020 Annual Meeting on Women’s Cancer. SGO...
[10] O’MALLEY, DAVID M. Post progression outcomes in patients with ovarian carcinoma associated with a mutation in a nonBRCA homologous recombination repair gene receiving rucaparib maintenance treatment: results from the phase 3 study ARIEL3[C]. SGO 2020 Annual Meeting on Women’s Cancer. SGO...
4.SandroPignata,et al.ORZORA: maintenance olaparib in patients with platinum sensitiverelapsed ovarian cancer: outcomes by somatic and germline BRCA and otherhomologous recombination repair gene mutation status.2021 SGO. 5.Hodgsonet al. Long-term efficacy, tolerability and overall survival in patients ...