Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.
1/5 보강
PICO 자동 추출 (휴리스틱, conf 2/4)
유사 논문P · Population 대상 환자/모집단
1131 cases (19.
I · Intervention 중재 / 시술
추출되지 않음
C · Comparison 대조 / 비교
추출되지 않음
O · Outcome 결과 / 결론
Our study suggests that the selection of PC patients for PARPi treatment requires a significant revision of existing attitudes towards tumor genetic profiling.
Homologous recombination deficiency (HRD) resulting from inactivation of genes promotes chromosomal instability and renders tumor cells susceptible to platinum derivatives and PARP inhibitors (PARPi)
APA
Iyevleva AG, Aleksakhina SN, et al. (2025). Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.. International journal of molecular sciences, 26(24). https://doi.org/10.3390/ijms262411851
MLA
Iyevleva AG, et al.. "Complex Relationships Between Homologous Recombination Deficiency (HRD) Score and Mutational Status of Homologous Recombination Repair (HRR) Genes in Prostate Carcinomas.." International journal of molecular sciences, vol. 26, no. 24, 2025.
PMID
41465280 ↗
Abstract 한글 요약
Homologous recombination deficiency (HRD) resulting from inactivation of genes promotes chromosomal instability and renders tumor cells susceptible to platinum derivatives and PARP inhibitors (PARPi). The contribution of alterations in other homologous recombination repair (HRR) genes to HRD remains understudied. This investigation aimed to analyze the spectrum of mutations in 34 HRR genes in prostate carcinomas (PCs) and study the relationship between HRR status and HRD. HRR mutations and HRD scores were examined by NGS in 1131 and 680 PCs, respectively. Pathogenic or likely pathogenic variants in HRR genes were detected in 216/1131 cases (19.1%). HRD, defined by an HRD score cut-off of ≥42, was observed more frequently in HRR-mutated than in wild-type tumors (23/120 (19.2%) vs. 29/560 (5.2%), < 0.0001). The highest HRD scores were detected in PCs with biallelic inactivation of the or genes, as well as in tumors with mutations. HRD was also occasionally seen in PCs with , , and alterations, but never in cases with mutations. HRD was significantly more associated with aggressive PC features than HRR mutations. The majority of -mutated tumors exhibited a distinct type of copy number variations (CNV)-a tandem duplication phenotype. Our study suggests that the selection of PC patients for PARPi treatment requires a significant revision of existing attitudes towards tumor genetic profiling.
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🏷️ 같은 키워드 · 무료전문 — 이 논문 MeSH/keyword 기반
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