The Landscape of RAD51D in Chinese Ovarian Cancer Patients: Prevalence, Correlation with HRD Score, and Correlation with Efficacy,medRxiv - Oncology

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The Landscape of RAD51D in Chinese Ovarian Cancer Patients: Prevalence, Correlation with HRD Score, and Correlation with Efficacy
medRxiv - Oncology Pub Date : 2024-03-20 , DOI: 10.1101/2024.03.19.24304522
Tianqi Sun , Mengpei Zhang , Xinyun Xu , Yiming Liang , Jinghong Chen , Qingli Li , Jing Zeng , Zhe Li , Yu Dong , Rutie Yin

Human genome is continuously threatened by endogenous and exogeneous sources of DNA damage, DNA damage repair (DDR) mechanisms are vital for genome instability and cancer prevention. Homologous recombination repair (HRR) is one of the most important DDR mechanisms because of its high-fidelity. BRCA1/2 have long been the best characterized HRR genes, but other non-BRCA1/2 HRR genes should not be overlooked. In this study, we illustrate that RAD51D is an important non-BRCA1/2 HRR gene in Chinese ovarian cancer patients, from perspectives including prevalence (2.9% patients mutated in RAD51D, 72.7% of RAD51D mutations were bi-allelic loss-of-function [BILOF]), correlation with HRD score (P=0.295 for RAD51D mutation, P=0.087 for RAD51D BILOF), and correlation with efficacy (progression-free survival: HR=0.685 P=0.069 for RAD51D mutation, HR=0.571 P=0.054 for RAD51D BILOF).

更新日期：2024-03-20

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