Varaico: Literature-Extracted Genetic Variants

Gene:ERCC4
Variant:p.R415Q
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ERCC4

NM_005236.3:p.R415Q

Associated Papers

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

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

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

Hunting for the elusive target antigen in gestational alloimmune liver disease (GALD).

Rieneck K et al.

Plos One, 2023

37862305 (PubMed )
Supplement: pone.0286432.s010.xlsx › Ark1

Chromothripsis is a frequent event and underlies typical genetic changes in early T-cell precursor lymphoblastic leukemia in adults.

Arniani S et al.

Leukemia, 2022

35974102 (PubMed )
Supplement: 41375_2022_1671_MOESM2_ESM.xlsx › Table_18

Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.

Villafranca-Magdalena B et al.

International Journal of Molecular Sciences, 2022

35682944 (PubMed )
Supplement: ijms-23-06266-s001.zip › Table_S5.xlsx › Hoja1

The link of ERCC2 rs13181 and ERCC4 rs2276466 polymorphisms with breast cancer in the Bangladeshi population.

Sahaba SA et al.

Molecular Biology Reports, 2022

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

Brambullo T et al.

Biomed Research International, 2022

Genetic Variants of DNA Repair Genes as Predictors of Radiation-Induced Subcutaneous Fibrosis in Oropharyngeal Carcinoma.

Gupta A et al.

Frontiers in Oncology, 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

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 › ERCC4

Germline Genetic Findings Which May Impact Therapeutic Decisions in Families with a Presumed Predisposition for Hereditary Breast and Ovarian Cancer.

Velázquez C et al.

Cancers, 2020

32756499 (PubMed )
Supplement: cancers-12-02151-s001.pdf

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

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

Yadav S et al.

Oncogene, 2020

32300177 (PubMed )
Supplement: 41388_2020_1280_MOESM3_ESM.xlsx › Main_Sheet_

Genetic Variants Detected Using Cell-Free DNA from Blood and Tumor Samples in Patients with Inflammatory Breast Cancer.

Winn JS et al.

International Journal of Molecular Sciences, 2020

32075053 (PubMed )
Supplement: ijms-21-01290-s001.zip › ijms-703397_SI › Supplementary_Table_3.xlsx › Supplementary_Table_2_final

Abstracts of the 4th meeting of the European Hereditary Tumour Group, Barcelona, Spain, October 17-19th, 2019.

Unknown Author

Familial Cancer, 2020

The multi-faceted high order polymorphic synergistic interactions among nucleotide excision repair genes increase the risk of lung cancer in North Indians.

Lawania S et al.

Mutation Research, 2019

Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.

Santos LS et al.

Genes, 2019

Somatic variants of potential clinical significance in the tumors of BRCA phenocopies.

Buckingham L et al.

Hereditary Cancer in Clinical Practice, 2019

The evolutionary pattern of mutations in glioblastoma reveals therapy-mediated selection.

Muscat AM et al.

Oncotarget, 2018

29487696 (PubMed )
Supplement: oncotarget-09-7844-s003.xlsx › Supplementary_Table_S2

Effects of gene polymorphisms of metabolic enzymes on the association between red and processed meat consumption and the development of colon cancer; a literature review.

Doaei S et al.

Journal of Nutritional Science, 2018

Genetic predisposition to lung cancer: comprehensive literature integration, meta-analysis, and multiple evidence assessment of candidate-gene association studies.

Wang J et al.

Scientific Reports, 2017

28827732 (PubMed )
Supplement: 41598_2017_7737_MOESM1_ESM.pdf

Investigation of DNA repair-related SNPs underlying susceptibility to papillary thyroid carcinoma reveals MGMT as a novel candidate gene in Belarusian children exposed to radiation.

Lonjou C et al.

Bmc Cancer, 2017

28499365 (PubMed )
Supplement: 12885_2017_3314_MOESM1_ESM.xls › SupplTableS1.xls

Single nucleotide polymorphisms in DNA repair genes and putative cancer risk.

Köberle B et al.

Archives of Toxicology, 2016

Polymorphisms in DNA repair genes, traffic-related polycyclic aromatic hydrocarbon exposure and breast cancer incidence.

Mordukhovich I et al.

International Journal of Cancer, 2016

Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children.

Silver AJ et al.

Genetic Testing and Molecular Biomarkers, 2016

Single nucleotide polymorphisms in the DNA repair genes in HPV-positive cervical cancer.

Bajpai D et al.

European Journal of Cancer Prevention : the Official Journal of the European Cancer Prevention Organisation (ecp), 2016

Polymorphisms in XPC, XPD and XPG DNA repair genes and leukemia risk in a Tunisian population.

Douzi K et al.

Leukemia & Lymphoma, 2015

Polymorphisms in nucleotide excision repair genes and basal cell carcinoma of the skin.

Pesz KA et al.

International Journal of Dermatology, 2014

Systems biology approach for mutational and site-specific structural investigation of DNA repair genes for xeroderma pigmentosum.

Sehgal M et al.

Gene, 2014

Nucleotide excision repair gene polymorphisms, meat intake and colon cancer risk.

Steck SE et al.

Mutation Research, 2014

Both genetic and dietary factors underlie individual differences in DNA damage levels and DNA repair capacity.

Slyskova J et al.

Dna Repair, 2014

Polymorphisms in DNA repair genes, recreational physical activity and breast cancer risk.

McCullough LE et al.

International Journal of Cancer, 2014

Candidate gene association studies and risk of chronic lymphocytic leukemia: a systematic review and meta-analysis.

Sava GP et al.

Leukemia & Lymphoma, 2014

Mutation analysis of the ERCC4/FANCQ gene in hereditary breast cancer.

Kohlhase S et al.

Plos One, 2014

Contribution of environment and genetics to pancreatic cancer susceptibility.

Hocevar BA et al.

Plos One, 2014

Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing.

Bodian DL et al.

Plos One, 2014

24728327 (PubMed )
Supplement: pone.0094554.s002.xlsx › Table_S3

Association between the XPG Asp1104His and XPF Arg415Gln polymorphisms and risk of cancer: a meta-analysis.

He XF et al.

Plos One, 2014

Functional evaluation of DNA repair in human biopsies and their relation to other cellular biomarkers.

Slyskova J et al.

Frontiers in Genetics, 2014

Combined genetic and nutritional risk models of triple negative breast cancer.

Lee E et al.

Nutrition and Cancer, 2014

The role of CCNH Val270Ala (rs2230641) and other nucleotide excision repair polymorphisms in individual susceptibility to well-differentiated thyroid cancer.

Santos LS et al.

Oncology Reports, 2013

Trismus following radiotherapy to the head and neck is likely to have distinct genotype dependent cause.

Lyons AJ et al.

Oral Oncology, 2013

Tagging SNPs in the ERCC4 gene are associated with gastric cancer risk.

Chu H et al.

Gene, 2013

Molecular epidemiology of DNA repair gene polymorphisms and head and neck cancer.

Wang M et al.

Journal of Biomedical Research, 2013

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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."