ArticleJournal for immunotherapy of cancer2021
Additive effects of variants of unknown significance in replication repair-associated DNA polymerase genes on mutational burden and prognosis across diverse cancers.
Article in Journal for immunotherapy of cancer, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 21 papers, 1 of them a synthesis that pooled it.
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Who cites it
21 citing papers in PubMed, 1 synthesis or guideline pooled it, 28 citations in OpenAlex.
- ATM is associated with the prognosis of colorectal cancer: a systematic review.Frontiers in oncology · 2025Pooled it
- Preliminary examination of noncoding mutations of esophageal squamous cell carcinoma in African Americans.Frontiers in genetics · 2026Article
- Tumor Imaging Heterogeneity Index-Inspired Insights into the Unveiling Tumor Microenvironment of Breast Cancer.International journal of molecular sciences · 2025Article
- Circulating tumor DNA predicts clinical benefits of immune checkpoint blockade in HER2-negative patients with advanced gastric cancer.Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association · 2025Article
- Multi-omics analysis uncovers predictive biomarkers for the efficacy and outcomes of chemoimmunotherapy in advanced unresectable biliary tract cancers.BMC medicine · 2025Article
- Article
- Exceptional response to chemo-immunotherapy in a patient with HER2-negative, TMB-high metastatic gastric mucinous adenocarcinoma: a case report and literature review.Frontiers in immunology · 2025Review
- Lymphoepithelioma-like carcinoma with carcinosarcoma of the endometrium: a case report and literature review.Frontiers in immunology · 2025Review
- Immune Checkpoint Inhibitors in pMMR/MSS Colorectal Cancer.Journal of gastrointestinal cancer · 2023Review
- A bispecific antibody AP203 targeting PD-L1 and CD137 exerts potent antitumor activity without toxicity.Journal of translational medicine · 2023Article
- Molecular Profile and Matched Targeted Therapy for Advanced Breast Cancer Patients.Current oncology (Toronto, Ont.) · 2023Article
- A novel somatic mutation in POLE exonuclease domain associated with ultra-mutational signature and MMR deficiency in endometrial cancer: a case report.Diagnostic pathology · 2023Article
- Case Report: Cancer spectrum and genetic characteristics of aFrontiers in oncology · 2023Article
- RB1 aberrations predict outcomes of immune checkpoint inhibitor combination therapy in NSCLC.Frontiers in oncology · 2023Article
- The role of DNA damage repair (DDR) system in response to immune checkpoint inhibitor (ICI) therapy.Journal of experimental & clinical cancer research : CR · 2022Review
- Functional landscapes of POLE and POLD1 mutations in checkpoint blockade-dependent antitumor immunity.Nature genetics · 2022Article
- DNA Repair and Replication-Related Gene Signature Based on Tumor Mutation Burden Reveals Prognostic and Immunotherapy Response in Gastric Cancer.Journal of oncology · 2022Article
- Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.Frontiers in genetics · 2022Article
- Identify a DNA Damage Repair Gene Signature for Predicting Prognosis and Immunotherapy Response in Cervical Squamous Cell Carcinoma.Journal of oncology · 2022Article
- Article
Corrections and comments
- Erratum issued
Authors and funding
13 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundDefects in replication repair-associated DNA polymerases often manifest an ultra-high tumor mutational burden (TMB), which is associated with higher probabilities of response to immunotherapies. The functional and clinical implications of different polymerase variants remain unclear.
methodsTargeted next-generation sequencing using a 425-cancer gene panel, which covers all exonic regions of three polymerase genes (
resultsThe overall prevalence of somatic and germline polymerase variants was 4.2% (95% CI 3.8% to 4.5%) and 0.7% (95% CI 0.5% to 0.8%), respectively, with highest frequencies in endometrial, urinary, prostate, and colorectal cancers (CRCs). While most germline polymerase variants showed no clear functional consequences, we identified a candidate p.T466A affecting the exonuclease domain of POLE, which might be underlying the early onset in a case with childhood CRC. Low frequencies of known hot-spot somatic mutations in
conclusionsOur results demonstrate the pathogenicity and additive prognostic value of
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.