PUNISHER rs12318065 C>A transversion: A putative somatic driver mutation for poor prognosis in colon cancer

Colon cancer (CC) remains one of the leading causes of cancer death worldwide. Several mutations/polymorphisms have been implicated in CC development and/or progression. The role of the recently identified variants related to the long non-coding RNAs (lncRNAs) family has not yet been fully uncovered...

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Published in:Bioscience reports 2022-06, Vol.42 (6), p.1
Main Authors: Shaheen, Sameerah, Alshammari, Eida M, Mokhtar, Sara H, Alshanwani, Aliah R, Toraih, Eman A, Ibrahiem, Afaf T, Fawzy, Manal S, Maher, Shymaa Ahmed
Format: Article
Language:English
Subjects:
Cancer therapies
Cell growth
Chemotherapy
Colon cancer
Colorectal cancer
Epigenetics
Genotype & phenotype
Genotypes
Heterozygotes
Lymphatic system
Medical prognosis
Metastases
Metastasis
MicroRNAs
Molecular Bases of Health & Disease
Monoclonal antibodies
Mutation
Non-coding RNA
Prognosis
Regression analysis
Software
Survival
Transversion
Tumors
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Summary:Colon cancer (CC) remains one of the leading causes of cancer death worldwide. Several mutations/polymorphisms have been implicated in CC development and/or progression. The role of the recently identified variants related to the long non-coding RNAs (lncRNAs) family has not yet been fully uncovered. In this sense, we aimed to explore the association between the lncRNA PUNISHER rs12318065 variant and the CC risk and/or prognosis. A total of 408 CC (paired 204 cancer/non-cancer) tissues were genotyped using the TaqMan allelic discrimination assay. "A" variant was associated with higher susceptibility to develop CC under heterozygote (A/C vs. C/C: OR=1.39, 95%CI=1.09-2.17, p=0.002), homozygote (A/A vs. C/C: OR=2.63, 95%CI=1.51-4.58, p=0.001), dominant (A/C-A/A vs. C/C: OR=1.72, 95%CI=1.15-2.57, p=0.008), and recessive (A/A vs C/C-A/C: OR=2.23, 95%CI=1.34-3.72, p=0.001) models. Patients with metastasis were more likely to harbor A/A and A/C genotypes (16.7% and 14.1%) than 11% with the C/C genotype (p=0.027). Patients harboring C>A somatic mutation were more likely to develop relapse (52.6% vs. 26.5%, p=0.003), have poor survival (57.9% vs. 27.7%, p=0.001), and have shorter disease-free survival (43.2 ± 2.6 months vs. 56.8 ± 1.29 months, p
ISSN:0144-8463
1573-4935
1573-4935
DOI:10.1042/BSR20220465