Varaico: Literature-Extracted Genetic Variants

Gene:ERCC6
Variant:p.R1230P
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ERCC6

NM_000124.4:p.R1230P

Associated Papers

Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.

Kauppinen AK et al.

International Journal of Cancer, 2025

40772756 (PubMed )
Supplement: IJC-157-2294-s002.xlsx › B_Tissue_as_normal

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

Establishment and Thorough Characterization of Xenograft (PDX) Models Derived from Patients with Pancreatic Cancer for Molecular Analyses and Chemosensitivity Testing.

Behrens D et al.

Cancers, 2023

38136299 (PubMed )
Supplement: cancers-15-05753-s001.zip › Behrens_Cancers2023_SuppTables.xlsx › Table_S2

NOTCH2NLC GGC repeat expansion causes retinal pathology with intranuclear inclusions throughout the retina and causes visual impairment.

Sone J et al.

Acta Neuropathologica Communications, 2023

37131242 (PubMed )
Supplement: 40478_2023_1564_MOESM1_ESM.xlsx › Table_3

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

High throughput profiling of undifferentiated pleomorphic sarcomas identifies two main subgroups with distinct immune profile, clinical outcome and sensitivity to targeted therapies.

Toulmonde M et al.

Ebiomedicine, 2020

33254023 (PubMed )
Supplement: mmc5.xlsx › UPS_somatic_mutations_filtered

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_

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

Santos LS et al.

Genes, 2019

Validation of CZECANCA (CZEch CAncer paNel for Clinical Application) for targeted NGS-based analysis of hereditary cancer syndromes.

Soukupova J et al.

Plos One, 2018

29649263 (PubMed )
Supplement: pone.0195761.s003.xlsx › S3

Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries.

Feitosa MF et al.

Plos One, 2018

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

Hong Z et al.

The International Journal of Biological Markers, 2017

Sporadic hemangioblastomas are characterized by cryptic VHL inactivation.

Shankar GM et al.

Acta Neuropathologica Communications, 2014

25589003 (PubMed )
Supplement: 40478_2014_167_MOESM1_ESM.xlsx › Supplementary_Table_6

Angiomatous meningiomas have a distinct genetic profile with multiple chromosomal polysomies including polysomy of chromosome 5.

Abedalthagafi MS et al.

Oncotarget, 2014

25347344 (PubMed )
Supplement: oncotarget-05-10596-s002.xlsx › Table_S4

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

Laryngeal cancer risk and common single nucleotide polymorphisms in nucleotide excision repair pathway genes ERCC1, ERCC2, ERCC3, ERCC4, ERCC5 and XPA.

Lu B et al.

Gene, 2014

Association of single nucleotide polymorphisms of nucleotide excision repair genes with laryngeal cancer risk and interaction with cigarette smoking and alcohol drinking.

Li X et al.

Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 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

[DNA repair gene polymorphisms in ERCC4 rs6498486 and ERCC5 rs751402 and risk of salivary gland tumors].

Meng X et al.

Shanghai Kou Qiang Yi Xue = Shanghai Journal of Stomatology, 2013

Induction of sister chromatid exchange by acrylamide and glycidamide in human lymphocytes: role of polymorphisms in detoxification and DNA-repair genes in the genotoxicity of glycidamide.

Pingarilho M et al.

Mutation Research, 2013

Genetic polymorphisms in DNA repair and oxidative stress pathways associated with malignant melanoma susceptibility.

Ibarrola-Villava M et al.

European Journal of Cancer (oxford, England : 1990), 2011

DNA base excision repair gene polymorphisms modulate human cognitive performance and decline during normal life span.

Lillenes MS et al.

Mechanisms of Ageing and Development, 2011

Laryngeal cancer risk associated with smoking and alcohol consumption is modified by genetic polymorphisms in ERCC5, ERCC6 and RAD23B but not by polymorphisms in five other nucleotide excision repair genes.

Abbasi R et al.

International Journal of Cancer, 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

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

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

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

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

Wu X et al.

American Journal of Human Genetics, 2006

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

García-Closas M et al.

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

Nucleotide excision repair gene polymorphisms and risk of advanced colorectal adenoma: XPC polymorphisms modify smoking-related risk.

Huang WY et al.

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