ArticleHuman mutation2008
A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer.
Article in Human mutation, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
19 citing papers in PubMed, 1 synthesis or guideline pooled it, 33 citations in OpenAlex.
- Review of the Gene-Environment Interaction Literature in Cancer: What Do We Know?Genetic epidemiology · 2016Pooled it
- Genetic Markers of Tumor Multiplicity in Non-melanoma Skin Cancer: Associations of 19 SNPs in an Italian Cohort.Dermatology and therapy · 2026Article
- Multiple primary tumors in a patient with non‑small‑cell lung cancer harboring mutations inOncology letters · 2025Article
- Whole Exome Sequencing reveals clinically important pathogenic mutations in DNA repair genes across lung cancer patients.American journal of cancer research · 2023Article
- A novel heterozygous ERCC6 variant identified in a Chinese family with non-syndromic primary ovarian insufficiency.Molecular genetics & genomic medicine · 2022Article
- A matter of delicate balance: Loss and gain of Cockayne syndrome proteins in premature aging and cancer.Frontiers in aging · 2022Review
- Review
- Identification of key pathways and genes in lung carcinogenesis.Oncology letters · 2018Article
- Epistatic SNP interaction of ERCC6 with ERCC8 and their joint protein expression contribute to gastric cancer/atrophic gastritis risk.Oncotarget · 2017Article
- Ultraviolet-B induces ERCC6 repression in lens epithelium cells of age-related nuclear cataract through coordinated DNA hypermethylation and histone deacetylation.Clinical epigenetics · 2016Article
- Modifiers of (CAG)(n) instability in Machado-Joseph disease (MJD/SCA3) transmissions: an association study with DNA replication, repair and recombination genes.Human genetics · 2014Article
- Toxicogenomics and cancer susceptibility: advances with next-generation sequencing.Journal of environmental science and health. Part C, Environmental carcinogenesis & ecotoxicology reviews · 2014Review
- Role of a novel functional variant in the PPP2R1A promoter on the regulation of PP2A-Aalpha and the risk of hepatocellular carcinoma.PloS one · 2013Article
- Genetic variability in DNA repair proteins in age-related macular degeneration.International journal of molecular sciences · 2012Review
- Genetic variant in CASP3 affects promoter activity and risk of esophageal squamous cell carcinoma.Cancer science · 2012Article
- Article
- Identification and functional analysis of variant haplotypes in the 5'-flanking region of protein phosphatase 2A-Bδ gene.PloS one · 2012Article
- Molecular cloning and gene expression analysis of Ercc6l in Sika deer (Cervus nippon hortulorum).PloS one · 2011Article
- The role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging.Mechanisms of ageing and developmentReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 7 institutions in 2 countries.
Funding
Abstract
Cockayne syndrome B protein (ERCC6) plays an essential role in DNA repair. However, the Cockayne syndrome caused by the ERCC6 defect has not been linked to cancer predisposition; likely due to the fact that cells with severe disruption of the ERCC6 function are sensitive to lesion-induced apoptosis, thus reducing the chance of tumorigenesis. The biological function and cancer susceptibility of a common variant rs3793784:C>G (c.-6530C>G) in the ERCC6 was examined. We show that the c.-6530C allele has lower binding affinity of Sp1 by EMSA and displays a lower transcriptional activity in vitro and in vivo. We then examined the contribution of this polymorphism to the risk of lung cancer in a case-control study with 1,000 cases and 1,000 controls. The case-control analysis revealed a 1.76-fold (P= x 10(-9)) excess risk of developing lung cancer for the c.-6530CC carriers compared with noncarriers. The c.-6530CC interacts with smoking to intensify lung cancer risk, with the odds ratio (OR)=9 for developing lung cancer among heavy smokers. Our data constituted strong evidence that ERCC6 rs3793784:C>G alters its transcriptional activity and may confer personalized susceptibility to lung cancer.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.