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GENE:

ERCC6 (Excision repair cross-complementation group 6)

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Other names: ERCC6, Excision repair cross-complementation group 6, ERCC Excision Repair 6, Chromatin Remodeling Factor, Excision Repair Cross-Complementing Rodent Repair Deficiency, Complementation Group 6, DNA Excision Repair Protein ERCC-6, Cockayne Syndrome Protein CSB, ATP-Dependent Helicase ERCC6, Cockayne Syndrome Group B Protein, Chimeric ERCC6-PGBD3 Protein, Chimeric CSB-PGBD3 Protein, ERCC6-PGBD3 Fusion Protein, CSB-PGBD3, ARMD5, COFS1, POF11, RAD26, UVSS1, COFS, CKN2
4d
Studies on the functionality of the TC-NER ERCC6-M1097V protein variant frequently found in Louisiana patients with PCa upon UV damage. (PubMed, Front Oncol)
This includes combining agents like CDDP (cisplatin) with inhibitors of RAD54, such as J54. These approaches may offer alternatives to androgen deprivation therapy (ADT), which is often ineffective in advanced or treatment-resistant PCa common among AA men. This work underscores the importance of integrating genetic, environmental, and therapeutic insights to address PCa disparities.
Journal • Tumor mutational burden
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TMB (Tumor Mutational Burden) • HRD (Homologous Recombination Deficiency) • ERCC6 (Excision repair cross-complementation group 6)
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TMB-H
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cisplatin
10d
Transcription-Coupled Repair Promotes the Retention of Mutations in Coding Regions During Replication Stress. (PubMed, Int J Mol Sci)
These findings suggest that while ERCC6 safeguards transcriptional continuity during RS, its activity is associated with a biased retention of stress-induced mutations within coding regions in the surviving cell population. These findings reveal a previously unrecognized link between transcription-coupled repair and mutation distribution in human cells, linking TC-NER to context-dependent somatic evolution and tumor heterogeneity.
Journal
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ERCC6 (Excision repair cross-complementation group 6) • TP53BP1 (Tumor Protein P53 Binding Protein 1)
21d
Allogeneic Hematopoietic Stem Cell Transplantation in ERCC6L2 Disease. (PubMed, Blood Adv)
The use of non-treosulfan-based myeloablative conditioning (MAC) regimens increased the risk of endothelial complications compared to reduced-intensity conditioning (RIC) (HR, 4.9; 95% CI, 1.1-22.0; P=0.040), whereas outcomes with treosulfan-based MAC were comparable to RIC. In summary, allogeneic HSCT is a viable curative strategy for ED when performed before transformation to an aggressive malignancy i.e. myelodysplasia with excess blasts or acute myeloid leukemia. However, the elevated incidence of endothelial toxicity highlights the importance of optimizing conditioning intensity and enhancing peritransplant monitoring in this population.
Clinical • Journal
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TP53 (Tumor protein P53) • ERCC6 (Excision repair cross-complementation group 6)
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TP53 mutation
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Grafapex (treosulfan)
1m
ERCC6L promotes cutaneous melanoma progression via PLK1-mediated aerobic glycolysis: Mechanisms and therapeutic implications. (PubMed, Life Sci)
Our study identifies ERCC6L as a novel upstream transcriptional regulator of PLK1 that fuels melanoma progression by reprogramming glucose metabolism. The ERCC6L-PLK1-glycolysis axis represents a promising prognostic biomarker and a potential therapeutic target for cutaneous melanoma.
Journal
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LDHA (Lactate dehydrogenase A) • PLK1 (Polo Like Kinase 1) • ERCC6 (Excision repair cross-complementation group 6) • PKM (Pyruvate Kinase M1/2) • SLC2A1 (Solute Carrier Family 2 Member 1)
1m
ercc6 deficient zebrafish exhibit UV and metronidazole sensitivity, increased oxygen consumption, and impaired hair cell mechanoelectrical transduction which can be restored by the superoxide dismutase mimetic MnTBAP. (PubMed, Hum Mol Genet)
We propose that defective mitochondrial function and increased reactive oxygen species levels provide a mechanism for hair cell dysfunction in this model of Cockayne Syndrome. These results provide a foundation for further experiments to explore disease mechanisms and treatment modalities for this premature aging condition.
Journal
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ERCC6 (Excision repair cross-complementation group 6)
2ms
Bone marrow failure, somatic rescue by p53 inactivation, and enhanced leukemogenesis in germline ERCC6L2 disease. (PubMed, Blood)
However, p53 loss fails to normalize replication stress, allowing for the accumulation of DNA damage over time which increases the likelihood for leukemic transformation. Our data uncover the pathogenesis of ERCC6L2 disease and provide a prototypic example of clonal compensation in BMF syndromes, where somatic mutations in leukemia-associated genes - in this case TP53 - transiently improve blood cell production at, however, the expense of increasing leukemogenic potential.
Journal
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RUNX1 (RUNX Family Transcription Factor 1) • GATA1 (GATA Binding Protein 1) • ERCC6 (Excision repair cross-complementation group 6)
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TP53 mutation
4ms
Diffusely metastatic glioblastoma with FGFR3::TACC3 fusion: cell-free DNA fragmentation analyses and molecular characterization of matched primary and metastatic tumor sites. (PubMed, Acta Neuropathol Commun)
Comprehensive molecular profiling of matched primary and metastatic tumors revealed broadly conserved genomic, transcriptomic, and copy number landscapes, with the metastasis harboring an additional ERCC6 deletion and enriched expression of receptor tyrosine kinase signaling genes. These findings provide rare insight into the genetic continuity and evolution underlying IDH-wildtype glioblastoma metastasis.
Journal
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FGFR3 (Fibroblast growth factor receptor 3) • TACC3 (Transforming acidic coiled-coil containing protein 3) • ERCC6 (Excision repair cross-complementation group 6)
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IDH wild-type
5ms
Evaluation of the association between sex-linked genes and treatment response in lung cancer. (PubMed, Radiother Oncol)
Sex-linked gene expression in lung tumours influences DDR and senescence pathways, correlating with survival outcomes. These findings highlight the importance of sex-specific analysis in lung cancer research and treatment.
Journal
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CENPI (Centromere Protein I) • ERCC6 (Excision repair cross-complementation group 6)
6ms
Phase separation of ERCC6L2-CtIP regulates the extent of DNA end resection. (PubMed, Nat Cell Biol)
Intriguingly, ERCC6L2 is frequently downregulated in multiple cancer types and correlates with resistance to ATM inhibitors in both in vitro and in vivo settings. Our findings unveil the crucial role of ERCC6L2-CtIP condensates in governing the extent of DNA end resection and underscore the potential significance of ERCC6L2 as a predictive biomarker for ATM inhibitor response.
Journal
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ERCC6 (Excision repair cross-complementation group 6)
7ms
ERCC6L-mediated stabilization of HIF-1α enhances glycolysis and stemness properties of lung adenocarcinoma cells. (PubMed, Cell Death Dis)
The ERCC6L/HIF-1α axis plays a crucial functional role in enhancing cancer stemness and LUAD progression both in vitro and in vivo. Hence, our findings underscore the significance of the ERCC6L/HIF-1α axis in regulating aerobic glycolysis in LUAD cells, suggesting its potential as a biomarker and therapeutic target for LUAD patients.
Journal
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HIF1A (Hypoxia inducible factor 1, alpha subunit) • ERCC6 (Excision repair cross-complementation group 6)
7ms
Prognostic and tumor microenvironmental features of gastric cancer revealed by macrophage polarization and protein lactylation-related genes. (PubMed, Front Genet)
Drug sensitivity analysis highlighted AZD.0530, CCT007093, DMOG, JNJ.26854165, and LFM.A13 as promising therapeutic candidates. In both datasets, expression of prognostic genes was significantly higher in the GC cohort. This study identified ERCC6L and MYB as key prognostic genes, facilitating the development of a risk model that offers novel insights into potential therapeutic strategies for GC.
Journal
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TP53 (Tumor protein P53) • MUC16 (Mucin 16, Cell Surface Associated) • TTN (Titin) • ERCC6 (Excision repair cross-complementation group 6)
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saracatinib (AZD0530) • serdemetan (JNJ-26854165)
9ms
A Dual Approach with Organoid and CRISPR Screening Reveals ERCC6 as a Determinant of Cisplatin Resistance in Osteosarcoma. (PubMed, Adv Sci (Weinh))
This exon skipping in BAX results in a frameshift and introduces a premature stop codon (TGA) within the BH3 domain. These findings underscore the utility of OSOs in elucidating resistance mechanisms and highlight ERCC6 and HNRNPM as potential therapeutic targets.
Journal
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BAX (BCL2-associated X protein) • ERCC6 (Excision repair cross-complementation group 6)
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cisplatin