XPC (XPC Complex Subunit, DNA Damage Recognition And Repair Factor)

The ERCC1 subunit of XPF facilitates DNA strand separation and recruitment of RPA to the non-lesion strand. These findings provide insights on the causes of human diseases and potential targets for enhancing chemotherapeutic efficacy.

P2, N=23, Not yet recruiting, Martin T. King, MD, PhD

The c.2391delT(p.F797Lfs*11) and IVS1+1G>A compound heterozygous variants probably underlay the pathogenesis in this patient. The detection of the novel variant has enriched the mutational spectrum of the XPC gene.

To treat the infection and skin carcinoma, antibiotics and plastic surgery were employed. The identified XPC variant has not been previously reported in Chinese or global populations, expanding the mutational spectrum of this gene and providing valuable data for genetic counseling of affected families.

Although several DNA repair gene polymorphisms have been explored, findings remain inconsistent and limited by populations and SNPs studied. Larger, well-designed studies with standardized methodologies are needed to confirm these associations and identify genetic markers for predicting high-risk patients for CIO.

This temporal divergence in genomic integrity highlights how culture pressures drive chromosomal evolution in XP-C iPSCs independently of initial reprogramming. Our findings emphasize that XP-C iPSCs require continuous genomic surveillance and provide a model for investigating how DNA repair deficiencies interact with in vitro culture stress.

XPC, XPD, and TP53 variants are significantly associated with PTC risk in Bangladeshi population. Combined genetic and bioinformatics evidence supports their potential as biomarkers for risk stratification, warranting larger functional studies.

Several clinically relevant variants were identified: DPYD rs2297595 occurred more frequently than in European cohorts, and UGT1A1 rs8175347 was observed at a higher prevalence, underscoring the potential risk of irinotecan-related neutropenia and diarrhea... This study provides the first comprehensive description of pharmacogenetic polymorphisms in a Russian cohort of patients with gastrointestinal cancers. Our findings confirm the clinical importance of DPYD and UGT1A1 testing and highlight additional variants of potential interest.

OTUD1 cleaves the K63-linked ubiquitin chain of RAD23B and XPC, and enhances PRKN mediated K48-linked ubiquitination of RAD23B-XPC and the subsequent proteasomal degradation. The findings of this study highlighted that OTUD1 could be a potential therapeutic target for NSCLC.

These findings provide new insights into the phenotypic plasticity of bladder cancer under drug resistance and highlight the potential of KDM4A inhibition and preservation of PHRF1 function in overcoming cisplatin resistance. Therefore, KDM4A or PHRF1 may be potential novel targets for the treatment of bladder cancer.

Although the investigated XPC polymorphisms were not associated with CRC susceptibility, the rs2228000 and rs2228001 variant genotypes may serve as novel prognostic biomarkers. Further large-scale studies across diverse populations are recommended to validate these findings.

Upon overcoming the bottleneck, the DNA adopts a final untwisted conformation, with the lesion flipping out first, followed by the complete sequential flipping of the 5' base and then the 3' partner bases, while full β-hairpin insertion ultimately stabilizes the final bound DNA complex. The energetics and structural intermediates along the MEP provide key insights into conformational changes that drive lesion recognition, extrusion, and stable binding, advancing our understanding of nucleotide excision repair.