Non-invasive saliva-based profiling of TP53 codon 72 polymorphism in oral cancer patients by droplet digital PCR

IF 1 Q4 GENETICS & HEREDITY

Gene Reports Pub Date : 2025-05-14 DOI:10.1016/j.genrep.2025.102256

Rhea Kishore , Sonam N. Kille , Reena Kishore , Gunimala Chakraborty , Vinay Kumar J. Rajendra , Audrey D'Cruz , Anirban Chakraborty

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引用次数: 0

Abstract

Germline polymorphisms in tumor suppressor genes are linked to predisposition to several types of cancers. TP53 is one of the most frequently mutated genes in oral cancer and several polymorphisms have been reported in this important tumor suppressor gene. The c.215C > G (p.Pro72Arg) polymorphism in exon 4 of TP53 is a well-studied polymorphism in oral cancer. In this study, the status of c.215C > G polymorphism was checked in saliva of 33 oral cancer patients by a liquid biopsy approach using the ultrasensitive Droplet Digital PCR (ddPCR) technology. The results revealed that the C/G genotype (Pro/Arg) was present in 45.5 % of the samples whereas 36.3 % and 18.2 % samples showed the presence of G/G and C/C alleles respectively. The results obtained from the saliva-derived cfDNA were in concordance with those obtained using tumor tissue-derived DNA. The study demonstrates the use of ddPCR as a non-invasive method for saliva-based genotyping of TP53 polymorphisms in oral cancer.

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基于无创唾液的口腔癌患者TP53密码子72多态性微滴数字PCR分析

肿瘤抑制基因的种系多态性与几种癌症的易感性有关。TP53是口腔癌中最常见的突变基因之一，这一重要的抑癌基因已经报道了几种多态性。c.215C >；口腔癌TP53外显子4的G （p.Pro72Arg）多态性是一种被充分研究的多态性。在本研究中，c.215C >；采用超灵敏液滴数字PCR （ddPCR）技术对33例口腔癌患者唾液中G多态性进行了检测。结果表明，45.5%的样品存在C/G基因型（Pro/Arg）， 36.3%的样品存在G/G等位基因，18.2%的样品存在C/C等位基因。唾液来源的cfDNA结果与肿瘤组织来源的DNA结果一致。该研究证明了使用ddPCR作为一种基于唾液的口腔癌TP53多态性基因分型的非侵入性方法。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Gene Reports Biochemistry, Genetics and Molecular Biology-Genetics

CiteScore

3.30

自引率

7.70%

发文量

246

审稿时长

49 days

期刊介绍： Gene Reports publishes papers that focus on the regulation, expression, function and evolution of genes in all biological contexts, including all prokaryotic and eukaryotic organisms, as well as viruses. Gene Reports strives to be a very diverse journal and topics in all fields will be considered for publication. Although not limited to the following, some general topics include: DNA Organization, Replication & Evolution -Focus on genomic DNA (chromosomal organization, comparative genomics, DNA replication, DNA repair, mobile DNA, mitochondrial DNA, chloroplast DNA). Expression & Function - Focus on functional RNAs (microRNAs, tRNAs, rRNAs, mRNA splicing, alternative polyadenylation) Regulation - Focus on processes that mediate gene-read out (epigenetics, chromatin, histone code, transcription, translation, protein degradation). Cell Signaling - Focus on mechanisms that control information flow into the nucleus to control gene expression (kinase and phosphatase pathways controlled by extra-cellular ligands, Wnt, Notch, TGFbeta/BMPs, FGFs, IGFs etc.) Profiling of gene expression and genetic variation - Focus on high throughput approaches (e.g., DeepSeq, ChIP-Seq, Affymetrix microarrays, proteomics) that define gene regulatory circuitry, molecular pathways and protein/protein networks. Genetics - Focus on development in model organisms (e.g., mouse, frog, fruit fly, worm), human genetic variation, population genetics, as well as agricultural and veterinary genetics. Molecular Pathology & Regenerative Medicine - Focus on the deregulation of molecular processes in human diseases and mechanisms supporting regeneration of tissues through pluripotent or multipotent stem cells.