Varaico: Literature-Extracted Genetic Variants

Gene:XRCC1
Variant:p.Q399R
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XRCC1

NM_006297.3:p.Q399R

Associated Papers

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

Sunil P et al.

Frontiers in Genetics, 2026

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Molecular landscape of non-driver genes in myeloproliferative neoplasms through 333 cancer genes panel: Insights to reveal in Pakistan.

Rashid M et al.

Bmc Medical Genomics, 2025

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Potential risk genotypes associated with symptoms of pesticide poisoning based on polymorphisms in the XRCC1 (rs25487 and rs1799782), SOD2 (rs4880), PON1 (rs662) and GSTP1 (rs1695) genes, in farmers in the Cienega region.

Flores Gutiérrez CA et al.

Journal of Investigative Medicine : the Official Publication of the American Federation for Clinical Research, 2025

The MiBlend Randomized Trial: Investigating Genetic Polymorphisms in Personalized Responses to Fruit and Vegetable Interventions for Chronic Disease Prevention.

DeBenedictis JN et al.

Antioxidants (basel, Switzerland), 2025

Genome-wide association study of Fuchs' endothelial corneal dystrophy in the German population.

Fechner J et al.

Human Genetics, 2025

40353861 (PubMed )
Supplement: 439_2025_2749_MOESM2_ESM.xlsx › Tabelle1

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

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

Association of XRCC1 (rs1799782) and XPD (rs13181) gene polymorphisms with renal failure risk in a sample of Iraqi population: a case-control study.

Abo-Ghneim FDF et al.

Molecular Biology Reports, 2025

ctDNA-based liquid biopsy reveals wider mutational profile with therapy resistance and metastasis susceptibility signatures in early-stage breast cancer patients.

Bharde A et al.

The Journal of Liquid Biopsy, 2025

40027235 (PubMed )
Supplement: mmc4.xlsx › Sheet1

The pharmacogenomic landscape in the Chinese: An analytics of pharmacogenetic variants in 206,640 individuals.

Wang LY et al.

Innovation (cambridge (mass.)), 2025

39991480 (PubMed )
Supplement: mmc5.xlsx › Sheet1

Case report: A panorama gene profile of ovarian cancer metastasized to axillary lymph node.

Xia Y et al.

Frontiers in Immunology, 2025

Successful rapid improvement of acute respiratory distress syndrome induced by EGFR-mutated non-small cell lung cancer with almonertinib: a case report.

Sun C et al.

Bmc Pulmonary Medicine, 2024

39334060 (PubMed )
Supplement: 12890_2024_3292_MOESM1_ESM.xlsx › Mutations

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

Barba A et al.

Pharmaceutics, 2024

A Systematic Review of the Prevalence of Germline BRCA mutations in North Asia Breast Cancer Patients.

Gervas P et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2024

Frequency of pharmacogenomic variants affecting efficacy and safety of anti-cancer drugs in a south Asian population from Sri Lanka.

Ranasinghe P et al.

Bmc Medical Genomics, 2024

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

Single Nucleotide Polymorphisms as Biomarker Predictors of Oral Mucositis Severity in Head and Neck Cancer Patients Submitted to Combined Radiation Therapy and Chemotherapy: A Systematic Review.

Cavalieri R et al.

Cancers, 2024

TSC2 nonsense mutation in angiomyolipoma with epithelial cysts: a case report and literature review.

Song H et al.

Frontiers in Oncology, 2024

A Primary Telangiectatic Mandibular Osteosarcoma With Germ-Line Malignancy-Associated DNA Damage Repair Gene Polymorphisms: A Case Report.

Tahir M et al.

Case Reports in Oncological Medicine, 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

X-ray cross-complementing family: the bridge linking DNA damage repair and cancer.

Liu Q et al.

Journal of Translational Medicine, 2023

Impact of DNA repair polymorphisms on DNA instability biomarkers induced by lead (Pb) in workers exposed to the metal.

Nunes EA et al.

Chemosphere, 2023

Molecular Genetics of Thrombotic Myeloproliferative Neoplasms: Implications in Precision Oncology.

Chia YC et al.

Diagnostics (basel, Switzerland), 2023

Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.

Zhou D et al.

Frontiers in Oncology, 2023

37546421 (PubMed )
Supplement: DataSheet_1.xlsx › Sheet1

Isolation and characterization of two newly established thymoma PDXs from two relapses of the same patient: a new tool to investigate thymic malignancies.

Mendogni P et al.

Journal of Experimental & Clinical Cancer Research : Cr, 2022

36517829 (PubMed )
Supplement: 13046_2022_2554_MOESM1_ESM.xlsx › Table_S4

Concomitant Administration of Capecitabine and Folate Supplements: Need to Encourage Medication Reconciliation.

Stefanelli B et al.

Pharmaceuticals (basel, Switzerland), 2022

ATM kinase inhibitor AZD0156 in combination with irinotecan and 5-fluorouracil in preclinical models of colorectal cancer.

Davis SL et al.

Bmc Cancer, 2022

36309653 (PubMed )
Supplement: 12885_2022_10084_MOESM1_ESM.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

Serum levels of vitamin A, selenium, and better dietary total antioxidant capacity are related to lower oxidative DNA damage: A cross-sectional study of individuals at cardiovascular risk.

de Lima-Reis SR et al.

The Journal of Nutritional Biochemistry, 2022

The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.

Yang Y et al.

Bmc Cancer, 2022

35180847 (PubMed )
Supplement: 12885_2022_9279_MOESM3_ESM.xlsx › sheet1

Association study of candidate DNA-repair gene variants and acute graft versus host disease in pediatric patients receiving allogeneic hematopoietic stem-cell transplantation.

Uppugunduri CRS et al.

The Pharmacogenomics Journal, 2022

Molecular Profiling of Kenyan Acute Myeloid Leukemia Patients.

Gatua M et al.

Frontiers in Genetics, 2022

35836575 (PubMed )
Supplement: DataSheet1.xlsx › ST3

Genomic Profiling Reveals Novel Predictive Biomarkers for Chemo-Radiotherapy Efficacy and Thoracic Toxicity in Non-Small-Cell Lung Cancer.

He K et al.

Frontiers in Oncology, 2022

Genetic variants of APEX1 p.Asp148Glu and XRCC1 p.Gln399Arg with the susceptibility of hepatocellular carcinoma.

Saad AM et al.

Journal of Medical Virology, 2021

Association between Molecular Genetic Markers of DNA Repair and Cell Cycle Control Genes and Response to Platinum-Based Chemotherapy in Ovarian Cancer Patients.

Zavarikina TM et al.

Bulletin of Experimental Biology and Medicine, 2021

Relationship of the XRCC1 rs25487 polymorphism with demographic, behavioral, clinical, and histological parameters in oral potentially malignant disorders and oral squamous cell carcinoma in a Colombian population.

Hernández-Arenas YY et al.

Journal of Oral Biosciences, 2021

An Example of Personalized Treatment in HR+ HER2+ Long Survivor Breast Cancer Patient (Case Report).

Panebianco M et al.

Current Oncology (toronto, Ont.), 2021

34070464 (PubMed )
Supplement: curroncol-28-00184-s001.zip › curroncol-1167217-SI.pdf

Breast cancer organoids from malignant pleural effusion-derived tumor cells as an individualized medicine platform.

Pan B et al.

In Vitro Cellular & Developmental Biology. Animal, 2021

Cascade of interactions between candidate genes reveals convergent mechanisms in keratoconus disease pathogenesis.

Veerappa AM

Ophthalmic Genetics, 2021

Drug-Drug Interactions and Pharmacogenomic Evaluation in Colorectal Cancer Patients: The New Drug-PIN® System Comprehensive Approach.

Roberto M et al.

Pharmaceuticals (basel, Switzerland), 2021

33467633 (PubMed )
Supplement: pharmaceuticals-14-00067-s001.pdf

Targeted Therapy of Papillary Thyroid Cancer: A Comprehensive Genomic Analysis.

Hescheler DA et al.

Frontiers in Endocrinology, 2021

34630336 (PubMed )
Supplement: Table_1.xlsx › Tab2

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

Gene-to-gene interactions and the association of TP53, XRCC1, TNFα, HMMR, MDM2 and PALB2 with breast cancer in Kyrgyz females.

Isakova JT et al.

Breast Cancer (tokyo, Japan), 2020

Association between POLG and XRCC1 gene polymorphisms and keratoconus occurrence among Egyptian patients.

Awd-Allah NA et al.

Archivos De La Sociedad Espanola De Oftalmologia, 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."