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Related Experiment Video

Updated: Jun 29, 2026

gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair

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Published on: October 6, 2014

ERCC6/CSB gene polymorphisms and lung cancer risk.

Hongxia Ma¹, Zhibin Hu, Haifeng Wang

¹Department of Epidemiology and Biostatistics, Cancer Research Center of Nanjing Medical University, School of Public Health, 140 Han-Zhong Road, Nanjing, Jiangsu 210029, China.

|September 16, 2008

Summary

Genetic variants in the ERCC6 gene may increase lung cancer risk. Combined variations in multiple ERCC6 loci are associated with higher susceptibility to smoking-related lung cancer in a Chinese population.

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Published on: September 20, 2024

Area of Science:

Genetics
Molecular Biology
Cancer Research

Background:

Nucleotide excision repair (NER) enzymes remove DNA damage from environmental carcinogens.
Cockayne syndrome complementation group B (CSB), encoded by ERCC6, is crucial for recruiting NER factors to DNA damage sites.
Genetic variations in ERCC6 may influence DNA repair efficiency and lung cancer risk.

Purpose of the Study:

To investigate the association between ERCC6 genetic variants and the risk of smoking-related lung cancer.
To determine if single nucleotide polymorphisms (SNPs) in ERCC6 impact lung cancer susceptibility.

Main Methods:

Genotyping of eight tagging SNPs and three functional SNPs in the ERCC6 gene.
Case-control study involving 500 lung cancer cases and 517 controls from a Chinese population.
Statistical analysis of single SNP effects and combined genotype associations.

Main Results:

No single ERCC6 SNP showed a significant association with lung cancer risk.
Combined variants in four specific ERCC6 loci (rs2228526, rs4253160, rs12571445, rs3793784) were linked to a significantly increased lung cancer risk.
Individuals with three or more variant alleles in these loci had an adjusted odds ratio of 1.35 (95% CI, 1.04-1.75).

Conclusions:

Multiple ERCC6 gene loci may jointly contribute to lung cancer susceptibility.
These findings suggest a potential role for combined ERCC6 variants in identifying individuals at higher risk for smoking-related lung cancer.
Further validation is needed to confirm the contribution of ERCC6 variants to lung cancer risk.