Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.M1097V
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ERCC6

NM_000124.4:p.M1097V

Associated Papers

Studies on the functionality of the TC-NER ERCC6-M1097V protein variant frequently found in Louisiana patients with PCa upon UV damage.

Ogundepo O et al.

Frontiers in Oncology, 2025

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

The current state of genetic risk models for the development of kidney cancer: a review and validation.

Harrison H et al.

Bju International, 2022

35460182 (PubMed )
Supplement: BJU-130-550-s004.pdf

Genetic susceptibility of bladder cancer in the Lebanese population.

Kourie HR et al.

Bmc Medical Genomics, 2022

36253817 (PubMed )
Supplement: 12920_2022_1372_MOESM1_ESM.xlsx › sheet_1

Genetic Association of ERCC6 rs2228526 Polymorphism with the Risk of Cancer: Evidence from a Meta-Analysis.

Lin X et al.

Biomed Research International, 2022

Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.

Yadav S et al.

Oncogene, 2020

Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.

Singh R et al.

Plos One, 2020

32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS27

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

Shen TC et al.

Biology of Reproduction, 2019

Renal oncocytoma characterized by the defective complex I of the respiratory chain boosts the synthesis of the ROS scavenger glutathione.

Kürschner G et al.

Oncotarget, 2017

29285300 (PubMed )
Supplement: oncotarget-08-105882-s002.xlsx › nuclear_gene_mutations

Meta-analysis reveals no significant association between ERCC6 polymorphisms and bladder cancer risk.

Hong Z et al.

The International Journal of Biological Markers, 2017

Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.

Calmels N et al.

Orphanet Journal of Rare Diseases, 2016

27004399 (PubMed )
Supplement: 13023_2016_408_MOESM1_ESM.xlsx › Feuil1

The Cellular Response to Oxidatively Induced DNA Damage and Polymorphism of Some DNA Repair Genes Associated with Clinicopathological Features of Bladder Cancer.

Savina NV et al.

Oxidative Medicine and Cellular Longevity, 2016

Prediction of Bacillus Calmette-Guerin Response in Patients with Bladder Cancer after Transurethral Resection of Bladder Tumor by Using Genetic Variation Based on Genomic Studies.

Zhang N et al.

Biomed Research International, 2016

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0EM-01A.domain

Polymorphism of DNA repair genes OGG1, XRCC1, XPD and ERCC6 in bladder cancer in Belarus.

Ramaniuk VP et al.

Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2014

[The polymorphism of DNA repair genes XPD, XRCC1, OGG1, and ERCC6, life expectancy, and the inclination to smoke].

Romaniuk OP et al.

Genetika, 2014

hOGG1 Ser326Cys polymorphism is associated with risk of bladder cancer in a Chinese population: a case-control study.

Ma L et al.

Cancer Science, 2012

Association between polymorphisms of DNA repair genes and survival of advanced NSCLC patients treated with platinum-based chemotherapy.

Ren S et al.

Lung Cancer (amsterdam, Netherlands), 2012

Innate immunity and non-Hodgkin's lymphoma (NHL) related genes in a nested case-control study for gastric cancer risk.

Park SK et al.

Plos One, 2012

23028900 (PubMed )
Supplement: pone.0045274.s001.xlsx › NHL

Association between single nucleotide polymorphisms (SNPs) and toxicity of advanced non-small-cell lung cancer patients treated with chemotherapy.

Zhang L et al.

Plos One, 2012

[Relevance between single nucleotide polymorphisms in nicotinic acetylcholine receptor genes and DNA damage levels in coke oven workers].

Tu YX et al.

Zhonghua Lao Dong Wei Sheng Zhi Ye Bing Za Zhi = Zhonghua Laodong Weisheng Zhiyebing Zazhi = Chinese Journal of Industrial Hygiene and Occupational Diseases, 2011

The joint effect of hOGG1 single nucleotide polymorphism and betel quid chewing on oral cancer in Taiwan.

Tsou YA et al.

Anticancer Research, 2010

Elevated lung cancer risk is associated with deficiencies in cell cycle checkpoints: genotype and phenotype analyses from a case-control study.

Zheng YL et al.

International Journal of Cancer, 2010

ERCC1 haplotypes modify bladder cancer risk: a case-control study.

Ricceri F et al.

Dna Repair, 2010

Modulation of nucleotide excision repair in human lymphocytes by genetic and dietary factors.

Langie SA et al.

The British Journal of Nutrition, 2010

Genetic variants of nucleotide excision repair genes are associated with DNA damage in coke oven workers.

Wang F et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2010

Significant association of ERCC6 single nucleotide polymorphisms with bladder cancer susceptibility in Taiwan.

Chang CH et al.

Anticancer Research, 2009

Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.

Pan J et al.

Carcinogenesis, 2009

ERCC6/CSB gene polymorphisms and lung cancer risk.

Ma H et al.

Cancer Letters, 2009

Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.

Rajaraman P et al.

International Journal of Cancer, 2008

Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.

Lin J et al.

Carcinogenesis, 2008

Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.

Wu X et al.

Pharmacogenetics and Genomics, 2008

Genetic susceptibility to bladder cancer with an emphasis on gene-gene and gene-environmental interactions.

Horikawa Y et al.

Current Opinion in Urology, 2008

A novel single nucleotide polymorphism in ERCC6 gene is associated with oral cancer susceptibility in Taiwanese patients.

Chiu CF et al.

Oral Oncology, 2008

A variant of the Cockayne syndrome B gene ERCC6 confers risk of lung cancer.

Lin Z et al.

Human Mutation, 2008

Genetic variation in the DNA repair genes is predictive of outcome in lung cancer.

Matakidou A et al.

Human Molecular Genetics, 2007

High-order interactions among genetic polymorphisms in nucleotide excision repair pathway genes and smoking in modulating bladder cancer risk.

Chen M et al.

Carcinogenesis, 2007

Mutagen sensitivity and genetic variants in nucleotide excision repair pathway: genotype-phenotype correlation.

Lin J et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2007

Nucleotide excision repair pathway genes and oral premalignant lesions.

Wang Y et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2007

Cancer pharmacogenomics: role of DNA repair genetic polymorphisms in individualizing cancer therapy.

Gossage L et al.

Molecular Diagnosis & Therapy, 2007

Genetic variation in the nucleotide excision repair pathway and colorectal cancer risk.

Berndt SI et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2006

[Association between nucleotide excision repair gene polymorphisms and chromosomal damage in coke-oven workers].

Cheng J et al.

Zhonghua Yu Fang Yi Xue Za Zhi [chinese Journal of Preventive Medicine], 2006

Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

Wu X et al.

American Journal of Human Genetics, 2006

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."