ArticleTumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine2016
Polymorphisms in DNA repair genes in gastrointestinal stromal tumours: susceptibility and correlation with tumour characteristics and clinical outcome.
Article in Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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15 citing papers in PubMed, 1 synthesis or guideline pooled it, 22 citations in OpenAlex.
- Comprehensive assessment of the association between XPC rs2228000 and cancer susceptibility based on 26835 cancer cases and 37069 controls.Bioscience reports · 2019Pooled it
- Exploring nanotechnology solutions for improved outcomes in gastrointestinal stromal tumors.Heliyon · 2024Review
- Advances in the diagnosis and treatment of MET-variant digestive tract tumors.World journal of gastrointestinal oncology · 2024Review
- The critical role of circular RNAs in drug resistance in gastrointestinal cancers.Medical oncology (Northwood, London, England) · 2023Review
- Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.Frontiers in cell and developmental biology · 2021Article
- XPA: DNA Repair Protein of Significant Clinical Importance.International journal of molecular sciences · 2020Review
- An exploratory study by DMET array identifies a germline signature associated with imatinib response in gastrointestinal stromal tumor.The pharmacogenomics journal · 2019Article
- The rs17084733 variant in theEpigenetics · 2019Article
- Somatic pharmacogenomics of gastrointestinal stromal tumor.Cancer drug resistance (Alhambra, Calif.) · 2019Review
- Polymorphisms inJournal of clinical medicine · 2019Article
- Associations of mRNA expression of DNA repair genes and genetic polymorphisms with cancer risk: a bioinformatics analysis and meta-analysis.Journal of Cancer · 2019Review
- Polymorphisms in DNA repair pathway genes andCancer management and research · 2019Article
- Role of Xeroderma Pigmentosum Group D in Cell Cycle and Apoptosis in Cutaneous Squamous Cell Carcinoma A431 Cells.Medical science monitor : international medical journal of experimental and clinical research · 2018Article
- Genetic variants in ERCC1 and XPC predict survival outcome of non-small cell lung cancer patients treated with platinum-based therapy.Scientific reports · 2017Article
- Gastrointestinal stromal tumors (GIST): Facing cell death between autophagy and apoptosis.Autophagy · 2017Review
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Authors and funding
14 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
DNA repair pathways play an essential role in cancer susceptibility by maintaining genomic integrity. This led us to investigate the influence of polymorphisms in the genes coding repair pathway enzymes on gastrointestinal stromal tumours (GIST) susceptibility, tumour characteristics and clinical outcome. We investigated a panel of 20 polymorphisms in 11 genes in 81 cases and 147 controls. The XPD rs13181 wild-type allele and hOGG1 rs1052133 and XPF rs1800067 minor alleles were significantly associated with disease susceptibility. XPA rs1800975 and rs2808668 were associated with tumour size (P = 0.018), metastatic status at onset (P = 0.035) and mitotic index (P = 0.002). With regards to outcome treatment, the XPD rs50872 minor allele had a significant favourable impact on time to progression (TTP). Similarly, the XPC rs2228000 minor allele was correlated with a longer TTP (P = 0.03). On the contrary, the XPC rs2228001 and hOGG1 rs1052133 minor alleles were associated with a diminished TTP (P = 0.005 and P = 0.01, respectively). Regarding OS, we found the presence of at least one hOGG1 (rs1052133) minor allele that had a 60 % lower risk to die compared to the wild-type carriers (P = 0.04). Furthermore, the XRCC3 rs861539 variant allele is associated with a hazard of early death compared with the wild-type genotype (P = 0.04). To the best of our knowledge, this is the first study on polymorphisms in DNA repair genes, belonging to the different pathways, extensively evaluated in GIST patients. Through this multiple candidate gene approach, we report for the first time the significant associations between polymorphisms in DNA repair genes, susceptibility, clinical pathological features and clinical outcome in GIST.
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