scholarly journals Single nucleotide polymorphisms in nucleotide excision repair genes, cancer treatment, and head and neck cancer survival

2014 ◽  
Vol 25 (4) ◽  
pp. 437-450 ◽  
Author(s):  
Annah B. Wyss ◽  
Mark C. Weissler ◽  
Christy L. Avery ◽  
Amy H. Herring ◽  
Jeannette T. Bensen ◽  
...  
Keyword(s):  
Head And Neck Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Head And Neck ◽  
Nucleotide Excision Repair ◽  
Cancer Survival ◽  
Excision Repair ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Nucleotide Excision ◽  
Repair Genes

scholarly journals Single-Nucleotide Polymorphisms in Nucleotide Excision Repair Genes, Cigarette Smoking, and the Risk of Head and Neck Cancer

2013 ◽  
Vol 22 (8) ◽  
pp. 1428-1445 ◽  
Author(s):  
Annah B. Wyss ◽  
Amy H. Herring ◽  
Christy L. Avery ◽  
Mark C. Weissler ◽  
Jeannette T. Bensen ◽  
...  
Keyword(s):  
Head And Neck Cancer ◽  
Single Nucleotide Polymorphisms ◽  
Cigarette Smoking ◽  
Head And Neck ◽  
Nucleotide Excision Repair ◽  
Excision Repair ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Nucleotide Excision ◽  
Repair Genes

Genetic variants in the nucleotide excision repair genes are associated with the risk of developing endometriosis

2019 ◽  
Vol 101 (5) ◽  
pp. 928-937 ◽  
Author(s):  
Te-Chun Shen ◽  
Chia-Wen Tsai ◽  
Wen-Shin Chang ◽  
Yun-Chi Wang ◽  
Huai-Mei Hsu ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Excision Repair ◽  
Excision Repair ◽  
Multivariate Logistic Regression Analysis ◽  
Reproductive Age ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Nucleotide Excision ◽  
Central Taiwan ◽  
Repair Genes

Abstract Endometriosis is a major health issue among women of reproductive age. However, its etiology has not yet been completely understood. We investigated 10 single nucleotide polymorphisms from six novel nucleotide excision repair genes and the susceptibility to endometriosis. A total of 153 patients with endometriosis were recruited during 2000–2010 from central Taiwan. Pathological confirmation was necessary for all patients, and exclusion criteria included the presence of leiomyoma, adenomyosis, or cancer of the uterine, cervix, or ovary and a prescription of hormone therapy. Furthermore, a total of 636 age-matched individuals without endometriosis were recruited during the same time period from central Taiwan. The polymerase chain reaction coupled with restriction fragment length polymorphism methodology was applied for genotyping. The multivariate logistic regression analysis showed that subjects carrying the ERCC1 rs11615 TT (OR = 2.04, 95% CI = 1.36–3.41), ERCC2 rs1799793 AA (OR = 1.86, 95% CI = 1.14–3.11), and ERCC6 rs2228528 AA genotypes (OR = 1.79, 95% CI = 1.13–2.83) exhibited significantly increased risks of developing endometriosis compared with their counterparts carrying the wild-type genotypes. This study suggests that certain single nucleotide polymorphisms of nucleotide excision repair genes excision repair cross-complementation group 1 (ERCC1, ERCC2, and ERCC6) predispose women to the development of endometriosis.

scholarly journals Single Nucleotide Polymorphisms in MiRNA Binding Sites of Nucleotide Excision Repair-Related Genes Predict Clinical Benefit of Oxaliplatin in FOLFOXIRI Plus Bevacizumab: Analysis of the TRIBE Trial

Cancers ◽  
2020 ◽  
Vol 12 (7) ◽  
pp. 1742
Author(s):  
Mitsukuni Suenaga ◽  
Marta Schirripa ◽  
Shu Cao ◽  
Wu Zhang ◽  
Dongyun Yang ◽  
...  
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Nucleotide Excision Repair ◽  
Binding Sites ◽  
Excision Repair ◽  
Dependent Manner ◽  
Nucleotide Polymorphisms ◽  
Wild Type ◽  
First Line ◽  
Single Nucleotide ◽  
Nucleotide Excision

Background: The nucleotide excision repair (NER) pathway participates in platinum-induced DNA damage repair. Single nucleotide polymorphisms (SNPs) in miRNA-binding sites in the NER genes RPA2 and GTF2H1 are associated with the risk of colorectal cancer (CRC). Here, we analyzed whether RPA2 and GTF2H1 SNPs predict the efficacy of oxaliplatin in metastatic CRC (mCRC) patients. Patients and methods: Genomic DNA was extracted from blood samples from 457 patients with mCRC enrolled in the TRIBE trial, which compared first-line FOLFOXIRI plus bevacizumab (BEV) (n = 230, discovery cohort) and first-line FOLFIRI plus BEV (n = 227, control cohort). SNPs were analyzed by PCR-based direct sequencing. Results: In the FOLFOXIRI + BEV-treated cohort expressing wild-type KRAS, progression-free survival (PFS) was shorter for the RPA2 rs7356 C/C variant subgroup than the any T allele subgroup in univariate analysis (9.1 versus 13.3 months respectively, hazard ratio (HR) 2.32, 95% confidence interval (CI): 1.07–5.03, p = 0.020) and this remained significant in multivariable analysis (HR 2.97, 95%CI: 1.27–6.94, p = 0.012). A similar trend was observed for overall survival. In contrast, patients expressing mutant RAS and RPA2 rs7356 C/C variant had longer PFS with FOLFOXIRI + BEV than with FOLFIRI + BEV (12.1 versus 7.6 months, HR 0.23, 95%CI: 0.09–0.62, p = 0.002) but no superiority of FOLFOXIRI + BEV was observed for the RAS mutant, RPA2 rs7356 any T variant subgroup (11.7 versus 9.6 months, HR 0.77, 95%CI: 0.56–1.07, p = 0.12) or the RAS wild-type, RPA2 rs7356 C/C variant subgroup. Conclusion: RPA2 SNPs may serve as predictive and prognostic markers of oxaliplatin responsiveness in a RAS status-dependent manner in mCRC patients receiving FOLFOXIRI + BEV.

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