ArticleClinical and experimental medicine2019
Mutation analysis of POLE gene in patients with early-onset colorectal cancer revealed a rare silent variant within the endonuclease domain with potential effect on splicing.
Article in Clinical and experimental medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 9 citations in OpenAlex.
- Article
- Molecular genetics of early-onset colorectal cancer.World journal of biological chemistry · 2023Review
- Distinct clinical pattern of colorectal cancer patients with POLE mutations: A retrospective study on real-world data.Frontiers in genetics · 2022Article
- Genomic profile and immune contexture in colorectal cancer-relevance for prognosis and immunotherapy.Clinical and experimental medicine · 2021Review
- Development and validation of a metabolic gene signature for predicting overall survival in patients with colon cancer.Clinical and experimental medicine · 2020Article
- The expression level of COX7C associates with venous thromboembolism in colon cancer patients.Clinical and experimental medicine · 2020Article
- MUC4 isoforms expression profiling and prognosis value in Chinese melanoma patients.Clinical and experimental medicine · 2020Article
- Patient-derived xenograft models for personalized medicine in colorectal cancer.Clinical and experimental medicine · 2020Review
- Genetic and epigenetic analysis of the beta-2-microglobulin gene in microsatellite instable colorectal cancer.Clinical and experimental medicine · 2020Article
- The epithelial cadherin -160C/A polymorphism is associated with decreased risk of colorectal cancer: a case-control study.Clinical and experimental medicine · 2020Article
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Authors and funding
12 authors at 5 institutions in 4 countries.
Funding
Abstract
The colorectal cancer harbor germline, somatic or epimutations in mismatch repair genes, MUTYH or POLE gene, which lead to the hypermutated and ultramutator phenotypes with increased immune response. The mutations in POLE gene were reported to occur more frequently in early-onset colorectal cancer (EOCRC), and the patients are strong candidates for checkpoint inhibitor therapy. Here, we report mutation analysis within the endonuclease domain of the POLE gene in the cohort of patients with EOCRC in order to identify recurrent or new mutations and evaluate their association with the presence of tumor-infiltrating lymphocytes (TILs) and peritumoral lymphoid reaction. We have shown a significant association between MSI tumors and TILs (p = 0.004). Using sensitive single-tube nested PCR with subsequent Sanger sequencing, we have found in one female patient diagnosed at age 48 with rectal adenocarcinoma with mucinous elements staged pT3pN2pM1 a silent variant within the exon 9 NM_006231.3 c.849 C > T, NP_00622.2 p.Leu283 = recorded in dSNP as rs1232888774 with MAF = 0.00002. In silico prediction, result showed possible involvement into splicing; therefore, this rare variant can be involved into EOCRC pathogenesis. In the time of precise medicine, it is important to develop screening strategies also for less common conditions such as EOCRC allowing to predict tailored therapy for younger patients suffering from CRC that harbor mutations in the POLE gene.
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