Somatic mutations and single nucleotide polymorphisms of base excision repair genes involved in the repair of 8-hydroxyguanine in damaged DNA

2001 ◽  
Vol 166 (1) ◽  
pp. 65-69 ◽  
Author(s):  
Kazuya Shinmura ◽  
Satoru Yamaguchi ◽  
Takayuki Saitoh ◽  
Takashi Kohno ◽  
Jun Yokota
Keyword(s):  
Single Nucleotide Polymorphisms ◽  
Base Excision Repair ◽  
Somatic Mutations ◽  
Excision Repair ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Base Excision ◽  
Repair Genes ◽  
Damaged Dna

Single nucleotide polymorphisms in base-excision repair genes hOGG1, APE1 and XRCC1 do not alter risk of Alzheimer's disease

2008 ◽  
Vol 442 (3) ◽  
pp. 287-291 ◽  
Author(s):  
Hande Parıldar-Karpuzoğlu ◽  
Semra Doğru-Abbasoğlu ◽  
Hasmet A. Hanagasi ◽  
Berrin Karadağ ◽  
Hakan Gürvit ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Single Nucleotide Polymorphisms ◽  
Base Excision Repair ◽  
Excision Repair ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Base Excision ◽  
Repair Genes

scholarly journals Impact of Single Nucleotide Polymorphisms of Base Excision Repair Genes on DNA Damage and Efficiency of DNA Repair in Recurrent Depression Disorder

2016 ◽  
Vol 54 (6) ◽  
pp. 4150-4159 ◽  
Author(s):  
Piotr Czarny ◽  
Dominik Kwiatkowski ◽  
Monika Toma ◽  
Joanna Kubiak ◽  
Agnieszka Sliwinska ◽  
...  
Keyword(s):  
Dna Damage ◽  
Dna Repair ◽  
Base Excision Repair ◽  
Excision Repair ◽  
Nucleotide Polymorphisms ◽  
Recurrent Depression ◽  
Single Nucleotide ◽  
Base Excision ◽  
Repair Genes ◽  
Depression Disorder

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

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

Common polymorphisms and somatic mutations in human base excision repair genes in ovarian and endometrial cancers

2001 ◽  
Vol 432 (3-4) ◽  
pp. 53-59 ◽  
Author(s):  
Maura Pieretti ◽  
Nada H. Khattar ◽  
Simon A. Smith
Keyword(s):  
Base Excision Repair ◽  
Somatic Mutations ◽  
Excision Repair ◽  
Endometrial Cancers ◽  
Base Excision ◽  
Repair Genes

Association Between Genetic Variants in the Base Excision Repair Pathway and Outcomes After Hematopoietic Cell Transplant.

Blood ◽  
2009 ◽  
Vol 114 (22) ◽  
pp. 870-870 ◽  
Author(s):  
Mukta Arora ◽  
Bruce Lindgren ◽  
Saonli Basu ◽  
Sriharsha Nagaraj ◽  
Myron Gross ◽  
...  
Keyword(s):  
Base Excision Repair ◽  
Excision Repair ◽  
Cell Transplant ◽  
Nucleotide Polymorphisms ◽  
Disease Relapse ◽  
Hematopoietic Cell Transplant ◽  
Single Nucleotide ◽  
Deleterious Alleles ◽  
Base Excision ◽  
One Year

Abstract Abstract 870 Introduction: Despite recent advances in technology and supportive care, hematopoietic cell transplant (HCT) continues to be associated with high morbidity and mortality. Since the therapies used in HCT induce DNA damage that is repaired by the base excision repair (BER) pathway we hypothesized that single nucleotide polymorphisms (SNPs) in BER genes may influence HCT outcomes. Methods: We evaluated the association between tagSNPs and functionally important SNPs (n= 179) in the BER pathway with transplant related mortality at one year (TRM) and disease relapse in a cohort of 470 recipients of allogeneic HCT for hematologic malignancies at the University of Minnesota between 1998 and 2007 from a HLA-identical sibling donor, HLA-matched or mismatched unrelated donor (URD) or single umbilical cord graft. Results: After adjustment for age at transplant, donor type, race, and conditioning regimen, four SNPs in OGGI, LIG3 and MUTYH1 genes (rs159153, rs3135974, rs3219463, rs3219476) were associated with increased risk of TRM whereas two SNPs in TDG gene (rs167715, rs2374327) were associated with decreased risk of TRM at one year (p≤0.01). Patients with increasing numbers of deleterious alleles in the BER pathway showed an increased cumulative incidence of TRM at one year (14% for ≤ 1 deleterious allele vs. 51% for ≥ 4 deleterious alleles; p<0.001). One SNP, rs3135974, in LIG3 gene was associated with decreased risk of disease relapse (p<0.001) post HCT. Conclusions: Single nucleotide polymorphisms in the BER pathway are significantly associated with both TRM and disease relapse, thus supporting the hypothesis that genetic polymorphisms in the BER pathway are involved in the pathophysiology of TRM and disease relapse. If confirmed in independent cohorts, these SNPs may indicate patients who might benefit from altered or less DNA damaging conditioning regimens. Disclosures: No relevant conflicts of interest to declare.

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.

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