Varaico: Literature-Extracted Genetic Variants

Gene:ERCC5
Variant:p.D1104H
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ERCC5

NM_000123.4:p.D1104H

Associated Papers

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

Sunil P et al.

Frontiers in Genetics, 2026

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

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

Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.

Yu J et al.

Frontiers in Oncology, 2025

41179686 (PubMed )
Supplement: Table2.xls › Sheet1

Patient tissue-derived FGFR4-variant and wild-type colorectal cancer organoid development and anticancer drug sensitivity testing.

Lin H et al.

Heliyon, 2024

38826758 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1

Previously reported CCDC26 risk variant and novel germline variants in GALNT13, AR, and MYO10 associated with familial glioma in Finland.

Nurminen R et al.

Scientific Reports, 2024

38773237 (PubMed )
Supplement: 41598_2024_62296_MOESM2_ESM.xlsx › Supplementary_Table_8

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_MOESM14_ESM.xlsx › S14

Genomic alterations in ovarian endometriosis and subsequently diagnosed ovarian carcinoma.

Linder A et al.

Human Reproduction (oxford, England), 2024

38459814 (PubMed )
Supplement: deae043_supplementary_table_s3.xlsx › Endometriosis

The Role of DNA Repair (XPC, XPD, XPF, and XPG) Gene Polymorphisms in the Development of Myeloproliferative Neoplasms.

Crișan AS et al.

Medicina (kaunas, Lithuania), 2024

ATR inhibition using gartisertib enhances cell death and synergises with temozolomide and radiation in patient-derived glioblastoma cell lines.

Lozinski M et al.

Oncotarget, 2024

38227740 (PubMed )
Supplement: oncotarget-15-28551-s001.pdf

Polymorphisms in ERCC1, ERCC4 and ERCC5 genes as biomarkers of susceptibility for pesticide-induced DNA damage in North-West Indian agricultural workers.

Kaur K et al.

Biomarkers : Biochemical Indicators of Exposure, Response, and Susceptibility to Chemicals, 2023

Indicators of HSV1 Infection, ECM-Receptor Interaction, and Chromatin Modulation in a Nuclear Family with Schizophrenia.

Huang YC et al.

Journal of Personalized Medicine, 2023

37763159 (PubMed )
Supplement: jpm-13-01392-s001.zip › Supplementary_Table_S3.xlsx › Variants

Elucidation of Increased Cervical Cancer Risk Due to Polymorphisms in XRCC1 (R399Q and R194W), ERCC5 (D1104H), and NQO1 (P187S).

Das AP et al.

Reproductive Sciences (thousand Oaks, Calif.), 2023

Identifying polymorphic cis-regulatory variants as risk markers for lung carcinogenesis and chemotherapy responses in tobacco smokers from eastern India.

Sengupta D et al.

Scientific Reports, 2023

36899086 (PubMed )
Supplement: 41598_2023_30962_MOESM2_ESM.xlsx › S11

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

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc8.xlsx › BrM167

The interplay between XPG-Asp1104His polymorphism and reproductive risk factors elevates risk of breast cancer in Tanzanian women: A multiple interaction analysis.

Adolf IC et al.

Cancer Medicine, 2023

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

XPG in the Nucleotide Excision Repair and Beyond: a study on the different functional aspects of XPG and its associated diseases.

Pal R et al.

Molecular Biology Reports, 2022

Predicting drug response and toxicity in metastatic colorectal cancer: the role of germline markers.

Bignucolo A et al.

Expert Review of Clinical Pharmacology, 2022

Cancer genomic profiling identified dihydropyrimidine dehydrogenase deficiency in bladder cancer promotes sensitivity to gemcitabine.

Tsukahara S et al.

Scientific Reports, 2022

35595780 (PubMed )
Supplement: 41598_2022_12528_MOESM2_ESM.pdf

Association of genetic polymorphisms in DNA repair genes ERCC2 Asp312Asn (rs1799793), ERCC2 Lys 751 Gln (rs13181), XRCC1 Arg399 Gln (rs25487) and XRCC3 Thr 241Met (rs861539) with the susceptibility of lung cancer in Saudi population.

Alsagaby S et al.

Nucleosides, Nucleotides & Nucleic Acids, 2022

Xeroderma Pigmentosum: A Genetic Condition Skin Cancer Correlated-A Systematic Review.

Brambullo T et al.

Biomed Research International, 2022

Polymorphisms in ERCC4 and ERCC5 and risk of cancers: Systematic research synopsis, meta-analysis, and epidemiological evidence.

Zuo C et al.

Frontiers in Oncology, 2022

36033436 (PubMed )
Supplement: Table_3.pdf

SYNE1 Exonic Variant rs9479297 Contributes to Concurrent Hepatocellular and Transitional Cell Carcinoma Double Primary Cancer.

Chu YD et al.

Biomedicines, 2021

Genetic polymorphisms in DNA repair genes and hepatocellular carcinoma risk.

Ghaderi-Zefrehi H et al.

Dna Repair, 2021

Role of ERCC5 polymorphisms in non‑small cell lung cancer risk and responsiveness/toxicity to cisplatin‑based chemotherapy in the Chinese population.

Li M et al.

Oncology Reports, 2021

Umbrella Review on Associations Between Single Nucleotide Polymorphisms and Lung Cancer Risk.

Li X et al.

Frontiers in Molecular Biosciences, 2021

34540891 (PubMed )
Supplement: DataSheet1.zip › Data_Sheet_---Supplementary_Additional_file › Supplementary_Additional_file › Supplementary_Additional_file_S2.docx

Association of polymorphisms in nucleotide excision repair pathway genes with susceptibility to cutaneous melanoma.

Hashemzehi A et al.

Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2021

Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.

Feng Y et al.

Frontiers in Cell and Developmental Biology, 2021

34805171 (PubMed )
Supplement: Table6.XLS › 49_sample_result

Decoding Cancer Variants of Unknown Significance for Helicase-Nuclease-RPA Complexes Orchestrating DNA Repair During Transcription and Replication.

Tsutakawa SE et al.

Frontiers in Molecular Biosciences, 2021

34966786 (PubMed )
Supplement: Table3.XLSX › ERCC5

Investigation of PALB2 Mutation and Correlation With Immunotherapy Biomarker in Chinese Non-Small Cell Lung Cancer Patients.

Zhang J et al.

Frontiers in Oncology, 2021

35087742 (PubMed )
Supplement: Table_1.xlsx › Table3_mut_frequency_v3

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Xing D et al.

Bmc Ophthalmology, 2020

33302902 (PubMed )
Supplement: 12886_2020_1711_MOESM1_ESM.xlsx › RawData

DNA repair pathways as guardians of the genome: Therapeutic potential and possible prognostic role in hematologic neoplasms.

Rahimian E et al.

Dna Repair, 2020

Potentially functional variants in nucleotide excision repair pathway genes predict platinum treatment response of Chinese ovarian cancer patients.

Li H et al.

Carcinogenesis, 2020

A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.

García-Cárdenas JM et al.

Journal of Medical Case Reports, 2020

32867815 (PubMed )
Supplement: 13256_2020_2451_MOESM1_ESM.xlsx › SPC34

Systematic meta-analyses, field synopsis and global assessment of the evidence of genetic association studies in colorectal cancer.

Montazeri Z et al.

Gut, 2020

31818908 (PubMed )
Supplement: gutjnl-2019-319313supp002.pdf

Association of DNA repair gene polymorphisms with colorectal cancer risk and treatment outcomes.

Al-Shaheri FN et al.

Experimental and Molecular Pathology, 2020

Genomic profiling of colorectal cancer with isolated lung metastasis.

Zhang N et al.

Cancer Cell International, 2020

32624706 (PubMed )
Supplement: 12935_2020_1373_MOESM3_ESM.xlsx › Sheet1

Risk Factors and Genetic Biomarkers of Multiple Primary Cancers in Esophageal Cancer Patients.

Yang PW et al.

Frontiers in Oncology, 2020

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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."