Downregulation of CDC20 Increases Radiosensitivity through Mcl-1/p-Chk1-Mediated DNA Damage and Apoptosis in Tumor Cells by Yang Gao, Pengbo Wen, Bin Chen, Guanshuo Hu, Lijun Wu, An Xu, Guoping Zhao

“…Subsequently, decreased Mcl-1 expression inhibited the expression level of phosphorylated checkpoint kinase 1 (p-Chk1), thereby resulting in impaired DNA damage repair through downregulating the homologous recombination repair protein Rad51 and finally causing apoptotic signaling. …”
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Whole-genome sequencing identified novel mutations in a Chinese family with lynch syndrome by Wan He, Wan He, Shaowei Dong, Jing Shen, Jing Shen, Jiutong Wu, Pan Zhao, Dongbing Li, Dongliang Wang, Na Tang, Na Tang, Chang Zou

“…We also used Sanger sequencing technology and immunohistochemistry (IHC) to verify some of the mutations identified in the WGS analysis.ResultsWe showed that mutations in mismatch repair (MMR) related genes, as well as pathways including DNA replication, base excision repair, nucleotide excision repair, and homologous recombination were enhanced in this family. Two specific variants, MSH2 (p.S860X) and FSHR (p.I265V) were identified in all five members with LS phenotypes in this family. …”
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TRIP13 Participates in Immediate-Early Sensing of DNA Strand Breaks and ATM Signaling Amplification through MRE11 by Hyeongsun Jeong, Minwoo Wie, In-Joon Baek, Gyuwon Sohn, Si-Hyeon Um, Seon-Gyeong Lee, Yuri Seo, Jaesun Ra, Eun A Lee, Shinseog Kim, Byung Gyu Kim, Rajashree A. Deshpande, Tanya T. Paull, Joo Seok Han, Taejoon Kwon, Kyungjae Myung

“…Recently, it was reported that TRIP13 could regulate the choice of the DNA repair pathway, i.e., homologous recombination (HR) or nonhomologous end-joining (NHEJ). …”
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GATA3 functions downstream of BRCA1 to promote DNA damage repair and suppress dedifferentiation in breast cancer by Xuejie Wang, Feng Bai, Xiong Liu, Bin Peng, Xingzhi Xu, Hongquan Zhang, Li Fu, Wei-Guo Zhu, Bin Wang, Xin-Hai Pei

“…Overexpression of GATA3 promoted homologous recombination (HR)-mediated DNA damage repair and restored HR efficiency of BRCA1-deficient cells. …”
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The Effects of Genetic and Epigenetic Alterations of BARD1 on the Development of Non-Breast and Non-Gynecological Cancers by Andrea K. Watters, Emily S. Seltzer, Danny MacKenzie, Melody Young, Jonathan Muratori, Rama Hussein, Andrej M. Sodoma, Julie To, Manrose Singh, Dong Zhang

“…BARD1-BRCA1 heterodimer plays a crucial role in a variety of DNA damage response (DDR) pathways, including DNA damage checkpoint and homologous recombination (HR). However, many mutations in both BARD1 and BRCA1 also exist in other domains that significantly affect their biological functions. …”
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Whole Exome Sequencing Identified a Novel Biallelic SMARCAL1 Mutation in the Extremely Rare Disease SIOD by Jing Jin, Keke Wu, Zhenwei Liu, Xiaomin Chen, Xiaomin Chen, Shan Jiang, Zhen Wang, Zhen Wang, Weixing Li, Weixing Li

“…Moreover, we identified 73 SMARCAL1-interacting genes, which formed a significant interconnected interaction network with roles in disease-related pathways such as double-strand break repair via homologous recombination, DNA repair, and replication fork processing. …”
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Characterization of a <i>Bacillus subtilis</i> S-16 Thiazole-Synthesis-Related Gene <i>thiS</i> Knockout and Antimicrobial Activity Analysis by Jinghan Hu, Zhenhe Su, Baozhu Dong, Dong Wang, Xiaomeng Liu, Huanwen Meng, Qinggang Guo, Hongyou Zhou

“…The thiazole-biosynthesis gene was deleted via homologous recombination, after which the contents of 2-MBTH in the wild-type and mutant S-16 strains were analyzed using GC-MS. …”
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HR-positive/HER2-negative breast cancer arising in patients with or without mutation: different biological phenotype and similar prognosis by Pu-Chun Li, Yi-Fan Zhu, Jia-Ni Pan, Qiao-Yan Zhu, Yu-Yang Liao, Xiao-Wen Ding, Lin-Feng Zheng, Wen-Ming Cao

“…Background: BRCA2 plays a key role in homologous recombination. However, information regarding its mutations in Chinese patients with breast cancer remains limited. …”
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The Helicase PIF1 Facilitates Resection over Sequences Prone to Forming G4 Structures by Sonia Jimeno, Rosa Camarillo, Fernando Mejías-Navarro, Maria Jesús Fernández-Ávila, Isabel Soria-Bretones, Rosario Prados-Carvajal, Pablo Huertas

“…Summary: DNA breaks are complex lesions that can be repaired either by non-homologous end joining (NHEJ) or by homologous recombination (HR). The decision between these two routes of DNA repair is a key point of the DNA damage response (DDR) that is controlled by DNA resection. …”
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Targeted therapy of advanced parathyroid carcinoma guided by genomic and transcriptomic profiling by Maria‐Veronica Teleanu, Carmina T. Fuss, Nagarajan Paramasivam, Sebastian Pirmann, Andreas Mock, Christoph Terkamp, Stefan Kircher, Laura‐Sophie Landwehr, Christina Lenschow, Nicolas Schlegel, Albrecht Stenzinger, Arne Jahn, Martin Fassnacht, Hanno Glimm, Daniel Hübschmann, Stefan Fröhling, Matthias Kroiss

“…In two cases, the genomic and transcriptomic profiles provided targets for experimental therapies that resulted in biochemical response and prolonged disease stabilization: (a) immune checkpoint inhibition with pembrolizumab based on high tumour mutational burden and a single‐base substitution signature associated with APOBEC (apolipoprotein B mRNA editing enzyme, catalytic polypeptide‐like) overactivation; (b) multi‐receptor tyrosine kinase inhibition with lenvatinib due to overexpression of FGFR1 (Fibroblast Growth Factor Receptor 1) and RET (Ret Proto‐Oncogene) and, (c) later in the course of the disease, PARP (Poly(ADP‐Ribose) Polymerase) inhibition with olaparib prompted by signs of defective homologous recombination DNA repair. In addition, our data provided new insights into the molecular landscape of PC with respect to the genome‐wide footprints of specific mutational processes and pathogenic germline alterations. …”
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New insight into the significance of KLF4 PARylation in genome stability, carcinogenesis, and therapy by Zhuan Zhou, Furong Huang, Indira Shrivastava, Rui Zhu, Aiping Luo, Michael Hottiger, Ivet Bahar, Zhihua Liu, Massimo Cristofanilli, Yong Wan

“…We further demonstrated the role of KLF4 in modulating homologous recombination through regulating BRCA1 transcription. …”
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Localization Microscopy Analyses of MRE11 Clusters in 3D-Conserved Cell Nuclei of Different Cell Lines by Marion Eryilmaz, Eberhard Schmitt, Matthias Krufczik, Franziska Theda, Jin-Ho Lee, Christoph Cremer, Felix Bestvater, Wladimir Schaufler, Michael Hausmann, Georg Hildenbrand

“…MRE11 is one of three proteins involved in the MRN-complex (MRE11-RAD50-NBS1 complex), a prominent DNA strand resection and broken end bridging component involved in homologous recombination repair (HRR) and alternative non-homologous end joining (a-NHEJ). …”
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A novel marker integrating multiple genetic alterations better predicts platinum sensitivity in ovarian cancer than HRD score by Fan Yang, Wei Wei, Ganghua Li, Qiongyu Lan, Xiwei Liu, Lin Gao, Chao Zhang, Jiangtao Fan, Jundong Li

“…HRDetect, utilized to characterize patients’ homologous recombination repair deficiency, was used to predict patients’ response to platinum-based chemotherapy. …”
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An Efficient Marker Gene Excision Strategy Based on CRISPR/Cas9-Mediated Homology-Directed Repair in Rice by Jiantao Tan, Yaxi Wang, Shuifu Chen, Zhansheng Lin, Yanchang Zhao, Yang Xue, Yuyu Luo, Yao-Guang Liu, Qinlong Zhu

“…Homology-directed repair (HDR) is a process of homologous recombination using homologous arms for efficient and precise repair of DNA double-strand breaks (DSBs). …”
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Functional Restoration of BRCA1 Nonsense Mutations by Aminoglycoside-Induced Readthrough by Renata B. V. Abreu, Thiago T. Gomes, Thales C. Nepomuceno, Thales C. Nepomuceno, Xueli Li, Mateus Fuchshuber-Moraes, Giuliana De Gregoriis, Guilherme Suarez-Kurtz, Alvaro N. A. Monteiro, Marcelo A. Carvalho, Marcelo A. Carvalho

“…BRCA1 is a major tumor suppressor that functions in the accurate repair of DNA double-strand breaks via homologous recombination (HR). Nonsense mutations in BRCA1 lead to inactive truncated protein products and are associated with high risk of breast and ovarian cancer. …”
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Reparative properties of human glioblastoma cells after single exposure to a wide range of X-ray doses by Galina Pavlova, Galina Pavlova, Galina Pavlova, Alexandra Belyashova, Ekaterina Savchenko, Dmitri Panteleev, Dzhirgala Shamadykova, Anna Nikolaeva, Svetlana Pavlova, Alexander Revishchin, Denis Golbin, Alexander Potapov, Natalia Antipina, Andrey Golanov

“…It was necessary to identify the relationship between high radiation doses and the proliferative activity of glioblastoma cells, and to evaluate the contribution of DNA repair pathways, homologous recombination (HR), and nonhomologous end joining (NHEJ) to tumor-cell recovery. …”
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ALDH1A1 promotes PARP inhibitor resistance by enhancing retinoic acid receptor-mediated DNA polymerase θ expression by Kousalya Lavudi, Ananya Banerjee, Na Li, Yajing Yang, Shurui Cai, Xuetao Bai, Xiaoli Zhang, Aidan Li, Elsa Wani, Shyh-Ming Yang, Junran Zhang, Ganesha Rai, Floor Backes, Srinivas Patnaik, Peixuan Guo, Qi-En Wang

“…Abstract Poly (ADP-ribose) Polymerase (PARP) inhibitors (PARPi) have been approved for both frontline and recurrent setting in ovarian cancer with homologous recombination (HR) repair deficiency. However, more than 40% of BRCA1/2-mutated ovarian cancer lack the initial response to PARPi treatment, and the majority of those that initially respond eventually develop resistance. …”
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Epithelioid Mesothelioma Patients with Very Long Survival Display Defects in DNA Repair by Monica Ganzinelli, Federica Guffanti, Anna Ianza, Navid Sobhani, Sergio Crovella, Fabrizio Zanconati, Cristina Bottin, Marco Confalonieri, Stefano Fumagalli, Alessandra Guglielmi, Daniele Generali, Giovanna Damia

“…The percentages of proliferating tumor cells positive for RAD51 and BRCA1 foci were evaluated using an immunofluorescence assay, as a readout of homologous recombination repair status. Results: Patient median survival time was 16.9 months, and based on this value, they were classified as long and short survivors (LS/SS) with, respectively, an overall survival ≥ and <16.9 months as well as very long and very short survivors (VLS/VSS) with an overall survival ≥ than 33.8 and < than 8.45 months. …”
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Transcriptome Profiling Identifies Candidate Genes Contributing to Male and Female Gamete Development in Synthetic <i>Brassica</i> Allohexaploids by Chengyan Ji, Zhaoran Tian, Yue Liu, Gongyao Shi, Baoming Tian, Weiwei Chen, Zhengqing Xie, Xingzhou Han, Niannian Liang, Fang Wei, Xiaochun Wei

“…By combining gene ontology (GO) biological process analysis and data from the published literature, we identified 37 candidate genes for DNA double-strand break formation, synapsis and the crossover of homologous recombination during male and female meiosis and 51 candidate genes for tapetum development, sporopollenin biosynthesis and pollen wall development in male gamete development. …”
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Differences in DNA damage repair gene mutations between left‐ and right‐sided colorectal cancer by Wei Huang, Wenliang Li, Ning Xu, Hui Li, Zihan Zhang, Xiaolong Zhang, Tingting He, Jicheng Yao, Mian Xu, Qingqing He, Lijie Guo, Sen Zhang

“…A survival analysis indicated that the DDR mutation was not associated with overall survival (OS) in MSS CRCs, while left‐sided patients with homologous recombination repair (HRR) pathway mutations had a significantly prolonged OS compared with right‐sided CRCs. …”
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