Varaico: Literature-Extracted Genetic Variants

Gene:ERCC2
Variant:p.D312N
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ERCC2

NM_000400.4:p.D312N

Associated Papers

Structural pharmacogenomics of drug-associated SNPs in oral squamous cell carcinoma.

Sunil P et al.

Frontiers in Genetics, 2026

A retrospective Case-Control study investigating the association of XPC Lys939Gln (rs2228001), XPD Lys751Gln (rs13181), and TP53 Arg72Pro (rs1042522) with papillary thyroid carcinoma susceptibility in the Bangladeshi population.

Jahan Bristy N et al.

Molecular Biology Reports, 2025

Contribution of Xeroderma Pigmentosum Complementation Group C Genotypes to Colorectal Cancer in Taiwanese.

Tsai YF et al.

Anticancer Research, 2025

Genetic Variability in Cisplatin Metabolism in Kidney Injury in Patients With Head and Neck Squamous Cell Carcinoma Undergoing Definitive Chemoradiotherapy.

Costa EFD et al.

Head & Neck, 2025

Quantitative functional profiling of ERCC2 mutations deciphers cisplatin sensitivity in bladder cancer.

Börcsök J et al.

The Journal of Clinical Investigation, 2025

A Case-Control Study on Combined Effects of Base Excision Repair and Nucleotide Excision Repair Gene Polymorphisms in Gastrointestinal Cancer Susceptibility.

Datkhile KD et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2025

Pathogenic germline variants in small cell lung cancer: A systematic review and meta-analysis.

Ul Haq S et al.

Hgg Advances, 2025

40308030 (PubMed )
Supplement: mmc2.xlsx › Table_S2

Effect of Repair Gene Polymorphism on the Risk of Malignant Neoplasm Development after Chronic Radiation Exposure.

Blinova EA et al.

Doklady. Biochemistry and Biophysics, 2025

Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.

Jantus-Lewintre E et al.

Molecular Diagnosis & Therapy, 2025

39798063 (PubMed )
Supplement: 40291_2024_766_MOESM2_ESM.xlsx › S1c-Control_D_2_HD827

Association of ERCC2/XPD polymorphisms and the risk of head and neck carcinoma: a systematic review, meta-analysis, trial sequential analysis, network analysis, and functional effects.

Imani MM et al.

Bmc Oral Health, 2025

Genomic instability in ovarian cancer: Through the lens of single nucleotide polymorphisms.

Canchi Sistla H et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2025

Distribution of genetic polymorphisms of nucleotide excision repair genes and risk of gastrointestinal cancer: Findings from a case-control study.

Patil MN et al.

Indian Journal of Cancer, 2025

Genetic signatures of ERCC1 and ERCC2 expression, along with SNPs variants, unveil favorable prognosis in SCLC patients undergoing platinum-based chemotherapy.

Caliman E et al.

Oncology Research, 2025

EPHX1 and ERCC2 polymorphisms are associated with cisplatin-induced nephrotoxicity and prognosis in Thai cancer patients.

Ahmed S et al.

Plos One, 2025

Association between ERCC2 Lys751Gln, Asp312Asn, and Arg156Arg polymorphisms and gynecological cancer susceptibility: a meta-analysis.

Chen F et al.

Frontiers in Oncology, 2025

Unveiling the molecular profile of a prostate carcinoma: implications for personalized medicine.

Agostini M et al.

Biology Direct, 2024

Pharmacogenetics of Neoadjuvant MAP Chemotherapy in Localized Osteosarcoma: A Study Based on Data from the GEIS-33 Protocol.

Salazar J et al.

Pharmaceutics, 2024

Contribution of ERCC2 rs13181 (Lys751Gln) and rs1799793 (Asp312Asn) polymorphisms to the risk of bladder cancer in Bangladesh.

Islam MA et al.

Cancer Genetics, 2024

ERCC1 and ERCC2 Polymorphisms Predict the Efficacy and Toxicity of Platinum-Based Chemotherapy in Small Cell Lung Cancer.

Barba A et al.

Pharmaceutics, 2024

Polymorphic variants of the hOGG1, APEX1, XPD, SOD2, and CAT genes involved in DNA repair processes and antioxidant defense and their association with breast cancer risk.

Timofeeva АА et al.

Vavilovskii Zhurnal Genetiki I Selektsii, 2024

The association between XPD rs13181 and rs1799793 polymorphism and oral cancer risk: evidence from a meta-analysis.

Zeng W et al.

Bmc Cancer, 2024

Combining germline, tissue and liquid biopsy analysis by comprehensive genomic profiling to improve the yield of actionable variants in a real-world cancer cohort.

Vanni I et al.

Journal of Translational Medicine, 2024

38750555 (PubMed )
Supplement: 12967_2024_5227_MOESM15_ESM.xlsx › S15

Cancer risks related to intellectual disabilities: A systematic review.

Banda A et al.

Cancer Medicine, 2024

Genetic polymorphisms as potential pharmacogenetic biomarkers for platinum-based chemotherapy in non-small cell lung cancer.

Sito H et al.

Molecular Biology Reports, 2024

Association between XRCC2 Arg188His Polymorphism and Breast Cancer Susceptibility: A Systematic Review and Meta-Analysis.

Dastgheib SA et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

Genetic Polymorphisms of XPC, XPD, XPG Genes and their Association with Radiotherapy Induced Toxicity among Head and Neck Cancer Patients: A Hospital Based Study from Maharashtra.

Gudur AK et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

Effect of ubiquitin protease system on DNA damage response in prostate cancer (Review).

Lin Y et al.

Experimental and Therapeutic Medicine, 2024

Genetic polymorphisms and platinum-induced hematological toxicity: a systematic review.

Zheng Y et al.

Frontiers in Pharmacology, 2024

Role of Single-Nucleotide Polymorphisms in Genes Implicated in Capecitabine Pharmacodynamics on the Effectiveness of Adjuvant Therapy in Colorectal Cancer.

Cura Y et al.

International Journal of Molecular Sciences, 2023

Multigene Panel Sequencing Identifies a Novel Germline Mutation Profile in Male Breast Cancer Patients.

Al Saati A et al.

International Journal of Molecular Sciences, 2023

Germline variants of the genes involved in NF-kB activation are associated with the risk of COPD and lung cancer development.

Baranasic J et al.

Acta Pharmaceutica (zagreb, Croatia), 2023

Systematic Review and Meta-Analysis of the Influence of Genetic Variation on Ototoxicity in Platinum-Based Chemotherapy.

Hong DZ et al.

Otolaryngology--head and Neck Surgery : Official Journal of American Academy of Otolaryngology-head and Neck Surgery, 2023

Facial clues to the photosensitive trichothiodystrophy phenotype in childhood.

Pascolini G et al.

Journal of Human Genetics, 2023

Involvement of ERCC1 (rs3212986) and ERCC2 (rs1799793, rs13181) polymorphisms of DNA repair genes in breast cancer occurrence in Burkina Faso.

Adico MDW et al.

Molecular Genetics & Genomic Medicine, 2023

Meta-Analysis of 49 SNPs Covering 25,446 Cases and 41,106 Controls Identifies Polymorphisms in Hormone Regulation and DNA Repair Genes Associated with Increased Endometrial Cancer Risk.

Das AP et al.

Genes, 2023

Association of Clinical Aspects and Genetic Variants with the Severity of Cisplatin-Induced Ototoxicity in Head and Neck Squamous Cell Carcinoma: A Prospective Cohort Study.

Macedo LT et al.

Cancers, 2023

Integrated Whole-Exome and Transcriptome Sequencing Indicated Dysregulation of Cholesterol Metabolism in Eyelid Sebaceous Gland Carcinoma.

Wang Y et al.

Translational Vision Science & Technology, 2023

36735267 (PubMed )
Supplement: tvst-12-2-4_s004.xls › S1

Pharmacogenetics of chemotherapy treatment response and -toxicities in patients with osteosarcoma: a systematic review.

Hurkmans EGE et al.

Bmc Cancer, 2022

36536332 (PubMed )
Supplement: 12885_2022_10434_MOESM2_ESM.pdf
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