Ask about this productRelated genes to: ERCC3 antibody
- Gene:
- ERCC3 NIH gene
- Name:
- ERCC excision repair 3, TFIIH core complex helicase subunit
- Previous symbol:
- -
- Synonyms:
- XPB, BTF2, RAD25, TFIIH, GTF2H
- Chromosome:
- 2q14.3
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-04-23
Related products to: ERCC3 antibody
Related articles to: ERCC3 antibody
- Hereditary cancers represent 5%-10% of all cancers, typically characterized by familial aggregation, early onset, and/or multiple primary tumors. Isolated cases with extreme early-onset or multiple unrelated cancers are rare and frequently underdiagnosed. This study aimed to improve genetic diagnostic yield in unresolved patients with strong clinical suspicion of hereditary cancer. Inclusion criteria were (1) ≥4 primary tumors in different organs (or ≥3 if two are rare), (2) adult-type cancers at ≤25 years, or (3) profuse gastrointestinal adenomatous polyposis before age 50 years or profuse polyposis of unknown type before age 30 years. - Source: PubMed
Publication date: 2026/04/16
Martins NelsonTerradas MarionaGarcia-Pelaez JoséSommer Anna KDemidov GermanMatalonga LeslieRamos-Muntada MireiaTe Paske Iris B A WSpier IsabelMensenkamp ArjenSchuurs-Hoeijmakers JannekeGullo IreneSão José CelinaPedro Ana MariaGouveia Silva RaquelSousa Ana BertaAmoroso Canão PedroFernandes SusanaGarrido LuziaDupont JulietteMaia SofiaSousa GabrielaIrmejs ArvidsBarili ValeriaBlatnik AnaRofes PaulaBrunet JoanCapellá GabrielLaurie StevenLázaro ConxiHoogerbrugge Nicolinede Voer Richarda MAretz StefanOliveira CarlaValle Laura - Unclassified round cell sarcomas (URCS) are a rare sarcoma subtype. Systemic treatment options for advanced URCS are limited, primarily consisting of radiotherapy and chemotherapy, while the efficacy and prerequisites for immunotherapy in URCS remain unclear. A better understanding of factors influencing the response to immunotherapy in URCS may facilitate the development of combination treatment strategies to prolong patient survival. This study reports a 60-year-old male patient with gallbladder URCS who was administered a combination of chemotherapy, bevacizumab, and pembrolizumab, followed by radiotherapy, achieving a progression-free survival of 11 months. This result supports the potential application of immunotherapy in advanced URCS. The patient exhibited vascular endothelial growth factor receptor amplification, mutations in CHEK1, ERCC3, and TP53, deletion of CD274 (gene of PD-L1), and microsatellite stability. These findings suggest that immunotherapy may be beneficial to URCS patients with low PD-L1 expression and microsatellite stability, when accompanied by immunotherapy-associated genetic alterations. - Source: PubMed
Publication date: 2026/04/08
Wang DandanLi TingWang XuanyiWang YingXu GuixuanXiao XueHu LanlinXu Chuan - Xeroderma pigmentosum group B (XPB/ERCC3) and group D (XPD/ERCC2) helicases are integral components of the transcription factor IIH (TFIIH) complex, coordinating DNA unwinding during transcription initiation and nucleotide excision repair (NER). XPB functions as an ATP-driven translocase that generates torsional strain to promote promoter melting and DNA opening at lesion sites, whereas XPD acts as a 5' to 3' helicase responsible for lesion verification and extension of the repair bubble. Structural and biochemical studies have clarified how TFIIH subunits regulate these helicases-p52 and p8 modulate XPB's translocation activity, while p44, p62, and MAT1 control XPD's helicase function through conformational and compositional transitions within the complex. Beyond their canonical roles, XPB and XPD participate in diverse cellular pathways, including cell-cycle regulation and oxidative stress response, highlighting their involvement in maintaining genome integrity beyond repair and transcription. Mutations in either helicase lead to xeroderma pigmentosum (XP), trichothiodystrophy (TTD), or combined XP/Cockayne syndrome (XP/CS) phenotypes, emphasizing the essential role of TFIIH integrity for human health. Recent biochemical and pharmacological advances have further revealed the therapeutic relevance of these helicases-XPB as a target of small-molecule inhibitors such as triptolide, Minnelide, and spironolactone, and XPD as a potential modulator of cancer sensitivity to DNA-damaging treatments. Collectively, XPB and XPD exemplify the structural and functional versatility of TFIIH helicases across repair, transcription, and genome maintenance. - Source: PubMed
Publication date: 2026/03/13
Bravo MarcoFan Li - Cockayne syndrome is an ultra-rare (1:2.5 million) hereditary disease from the group of progeroid syndromes caused by pathogenic and probable-pathogenic variants in DNA repair genes (ERCC8, ERCC6, XPB (ERCC3), XPD (ERCC2) and XPG (ERCC5)) and characterized by abnormal photosensitivity, congenital cataract, microcephaly, sensorineural hearing loss, nervous system pathology and other multisystem changes. In this manuscript, for the first time in the Russian Federation, we present the results of a clinical and genetic study and follow-up of a Russian cohort of patients. - Source: PubMed
Publication date: 2026/03/07
Kungurtseva A LPopovich A VTikhonovich Yu VIvannikova T EKovalskaia V AVasiliev P AVitebskaya A V - : Colon cancer, the third most diagnosed cancer worldwide, is anatomically classified into right- and left-sided colon cancers based on embryonic origin and vascular supply. The aim of this study was to investigate molecular differences between patients with right- and left-sided colon cancer. : In this pilot study, Blood samples from right-sided ( = 6) and left-sided ( = 6) colon cancer patients, as well as healthy controls ( = 6), were analyzed for 92 cancer-related genes via RT-qPCR. KEGG pathway analysis was performed with ShinyGO 0.82, and gene-metabolite interactions were assessed using EnrichR and MetaboAnalyst 6.0. Additionally, patients' sociodemographic and clinical data were analyzed. : KEGG analysis revealed that p53, HIF-1, TNF, PI3K/Akt, MAPK, and Rap1 signaling pathways were enriched in right-sided colon cancer, whereas VEGF, HIF-1, MAPK, PI3K/Akt, Rap1, and Ras signaling pathways were implicated in left-sided colon cancer. In the gene-metabolite analysis, key metabolites identified in right-sided colon cancer included palmitic acid, adenosine triphosphate (ATP), glycerol, and adenosine diphosphate (ADP), associated with genes such as , , , , , , , and . For left-sided colon cancer, glucose-6-phosphate (G6P), ATP, ADP, glycerol, and palmitoyl-CoA were key metabolites forming the basis of the gene-metabolite network, along with genes including , , , , , , , , , , and . : These findings highlight distinct molecular profiles between right- and left-sided colon cancers, particularly in pathways related to angiogenesis, apoptosis, ferroptosis, and fatty acid metabolism, which may inform therapeutic strategies. - Source: PubMed
Publication date: 2025/11/27
Ertuğrul IsmailÇelik Ayşe BüşranurAl MervenurDuman MustafaAltuntaş Yunus EmrePolat ErdalErtuğrul Yunus EmreKüçük Hasan FehmiTutar Yusuf