Association of ERCC1 polymorphisms (rs3212986 and rs11615) with the risk of head and neck carcinomas based on case–control studies

Ding, Yewei; Gao, Xiaofei; Ye, D. X.; Liu, Wei; Wu, Lan; Sun, Hong

doi:10.1007/s12094-015-1298-7

Cited by 17 publications

(12 citation statements)

References 20 publications

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“…This study included 910 head and neck cancer patients and 1337 control subjects from seven trials. The authors of that study concluded that the ERCC1-rs3212986 polymorphism in Asian populations was a predictor of head and neck cancer, whereas the ERCC1-rs11615 polymorphism was a risk factor for head and neck tumours, particularly laryngeal tumours 25 . One study investigated eight nucleotide polymorphisms of six genes in the context of smoking-related laryngeal squamous carcinoma.…”

Section: Discussionmentioning

confidence: 99%

Association of Smoking and XPG, CYP1A1, OGG1, ERCC5, ERCC1, MMP2, and MMP9 Gene Polymorphisms with the early detection and occurrence of Laryngeal Squamous Carcinoma

Zhu¹,

Guo²,

Wang³

et al. 2018

J. Cancer

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A total of 200 smoking-related laryngeal carcinoma patients with pathology confirmation from the Eye and ENT Hospital and 190 high-risk smokers were included in a survey. All of the participants had a smoking index greater than 400 (cigarettes/day*year.) We obtained data on clinical and baseline characteristics, and peripheral blood was obtained and subjected to DNA extraction to analyse the correlation between smoking and the occurrence of laryngeal carcinoma. We selected candidate genes and SNP fragments that were found to be closely associated with smoking-related tumours in preliminary studies. The selected candidate genes were XPG, CYP1A1, OGG1, ERCC5, ERCC1, MMP2, and MMP9. We then performed SNP sequencing using Sequenom SNP detection technology. Target genes and single nucleotide polymorphism (SNP) fragments were evaluated to analyse the correlation between genotype or allele and smoking-related laryngeal carcinoma and to identify susceptibility genes related to laryngeal carcinoma. The results included four main findings: (1) The smoking index differed significantly between laryngeal cancer patients and control subjects (P=0.0035). The risk of laryngeal cancer was increased among individuals with a smoking index greater than 600 cigarettes/day*year (P=0.03). (2) The smoking index was significantly correlated with the T, N and clinical stages (P<0.05). (3) The polymorphisms CYP1A1-rs1048943, rs4646421, and rs4646422 and MMP9-rs17577 were significantly associated with laryngeal squamous carcinoma (P<0.05). (4) After stratifying the subjects by smoking degree, the GT genotype of ERCC1-rs2298881 was associated with a significantly greater risk of laryngeal carcinoma among heavy smokers (P=0.04). The results suggest that smoking plays an important role in the occurrence and development of laryngeal squamous carcinoma; CYP1A1 and MMP9 might be susceptibility gene SNPs for smoking-related laryngeal carcinoma, and ERCC1 might play an important role in heavy smokers. The results of this study might help identify an early marker for the detection and prevention of laryngeal carcinoma.

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Section: Discussionmentioning

confidence: 99%

Association of Smoking and XPG, CYP1A1, OGG1, ERCC5, ERCC1, MMP2, and MMP9 Gene Polymorphisms with the early detection and occurrence of Laryngeal Squamous Carcinoma

Zhu¹,

Guo²,

Wang³

et al. 2018

J. Cancer

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“…In most studies, baseline biomarkers are evaluated for their prognostic role for disease outcomes (regardless of treatment), reflected by critical clinical trial endpoints. Key endpoints include overall survival (OS), progression‐free survival (PFS), disease‐free survival (DFS), loco‐regional (LR) control, and distant metastasis‐free survival …”

Section: Prognostic and Predictive Biomarkersmentioning

confidence: 99%

Review of emerging biomarkers in head and neck squamous cell carcinoma in the era of immunotherapy and targeted therapy

Hsieh

Wang

et al. 2019

Head & Neck

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Background Biomarkers in head and neck squamous cell carcinoma (HNSCC) emerge rapidly in recent years, especially for new targeted therapies and immunotherapies. Methods Recent, relevant peer‐reviewed evidence were critically reviewed and summarized. Results This review article briefly introduces essential biomarker concepts, including purposes and classifications (predictive, prognostic, and diagnostic markers), and the phases of biomarker development. We summarize current biomarkers in order of clinical utility; p16 and human papillomavirus status remain the most important and validated biomarkers in HNSCC. The rationale for biomarker study design continues to evolve with technological advances, especially whole‐exome or whole‐genomic sequencing. Noninvasive body fluid and liquid biopsy biomarkers appear to hold strong potential for development as tools for early cancer detection, cancer diagnosis, monitoring of disease recurrence, and outcome prediction. In light of discrepancies among different technologies, standardized approaches are needed. Conclusion Biomarkers from cancer tissue or blood in HNSCC could direct new anticancer therapies.

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“…DNA variants in MLH1 , which is involved in mismatch repair systems, are known to cause the hereditary cancer disorder ‘Lynch syndrome’ and also confer susceptibility to azoospermia and oligozoospermia (58, 59). Interestingly, an identical mutation C8092A (rs3212986) in the DNA base excision repair gene ERCC1 has independently been linked to both idiopathic azoospermia (60) and various types of cancer, including breast carcinoma, head and neck carcinoma and adult glioma (61–63). No studies have performed a mutational screening of these genes in male infertility cases with cancer as a comorbid state.…”

Section: Heritable Susceptibility To Cancer and Male Infertilitymentioning

confidence: 99%

Genetic intersection of male infertility and cancer

Nagirnaja

Aston

Conrad

2018

Fertility and Sterility

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Recent epidemiological studies have identified an association between male factor infertility and increased cancer risk, however, the underlying etiology for the shared risk has not been investigated. It is likely that much of the association between the two disease states can be attributed to underlying genetic lesions. In this article we review the reported associations between cancer and spermatogenic defects, and through database searches we identify candidate genes and gene classes that could explain some of the observed shared genetic risk. We discuss the importance of fully characterizing the genetic basis for the relationship between cancer and male factor infertility and propose future studies to that end.

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Association of ERCC1 polymorphisms (rs3212986 and rs11615) with the risk of head and neck carcinomas based on case–control studies

Cited by 17 publications

References 20 publications

Association of Smoking and XPG, CYP1A1, OGG1, ERCC5, ERCC1, MMP2, and MMP9 Gene Polymorphisms with the early detection and occurrence of Laryngeal Squamous Carcinoma

Association of Smoking and XPG, CYP1A1, OGG1, ERCC5, ERCC1, MMP2, and MMP9 Gene Polymorphisms with the early detection and occurrence of Laryngeal Squamous Carcinoma

Review of emerging biomarkers in head and neck squamous cell carcinoma in the era of immunotherapy and targeted therapy

Genetic intersection of male infertility and cancer

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