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1.
Clin Chim Acta ; 537: 60-73, 2022 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-36244434

RESUMO

Cancer remains the second leading cause of death worldwide and newly diagnosed cases have increased at an alarming rate. One in every four people has a lifetime risk of being afflicted with cancer. Early diagnosis, which is essential in reducing morbidity and mortality, requires the development of highly sensitive and specific techniques to identify and monitor molecular changes for cancer-specific genetic and epigenetic markers. Among these, fluorescent in situ hybridization (FISH), Polymerase Chain Reaction (PCR), DNA microarray and NanoString technologies are notable. Recent advances in the development of efficient and cost-effective next-generation sequencing (NGS) has enabled whole genome, exome and transcriptome analysis. This review focuses on the features and applications of important molecular techniques to detect various genetic mutations thus enabling improved diagnosis, treatment and outcome.


Assuntos
Sequenciamento de Nucleotídeos em Larga Escala , Neoplasias , Humanos , Hibridização in Situ Fluorescente , Sequenciamento de Nucleotídeos em Larga Escala/métodos , Exoma , Neoplasias/diagnóstico , Neoplasias/genética , Mutação
2.
Cell Signal ; 100: 110461, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36096460

RESUMO

Molecular alterations in oncogenes and tumor suppressors in various signaling pathways are basis for personalized therapy in cancer. Periampullary carcinoma behaves differently from pancreatic carcinoma both in prognosis and outcome, therefore it needs special attention. Pancreatic cancer have higher incidence of nodal spread and perineural &lymphovascular invasion suggesting it biologically more aggressive tumor compared to periampullary cancer. Since PAC tumors consist of heterogenous tissue of origin, they might contain different mutations in tumor associated genes and other changes in tissue composition among different subgroups clubbed together. Significant progress has been made in understanding the molecular nature of PAC in the previous two decades, and a large number of mutations and other genetic changes have been identified as being responsible for the disease. This review article targets to collate and discuss the molecular evolution of PAC and their implication in its outcome. As per literature, mitogen-activated protein kinase (MAPK), phosphatidylinositol-4,5-bisphosphate 3-kinase (PI3K), and Wnt signaling are the most common pathways involved in PAC. Mutations in KRAS, TP53, CTNNB1, SMAD4 and APC genes were the most frequently reported. I-subtype resembles colorectal cancer while the morphology of PB-type shows close resemblance to pancreatic tumors. The frequency of driver gene mutations is higher in I-type compared to PB-type of PAC indicating I-type to be genetically more unstable. The genetic landscape of PAC obtained from WES data highlighted PI3/AKT pathway to be a primary target in I-type and RAS/RAF in PB-type.

3.
Clin Chim Acta ; 532: 95-114, 2022 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-35667477

RESUMO

Cancer remains a common health issue having significant socioeconomic burden worldwide. Despite the awareness campaigns, cancer cases continue to increase due to an aging population and lack of early detection biomarkers. Accordingly, much research has focused on non-traditional approaches which include novel imaging modalities and liquid biopsy. In addition, a considerable number of biomacromolecules as well as other biomarkers have been identified to further explore their potential use as diagnostic, prognostic and therapeutic tools. In this review, we provide an update on these new findings and explore their clinical application in cancer.


Assuntos
Células Neoplásicas Circulantes , Idoso , Biomarcadores Tumorais , Humanos , Biópsia Líquida , Células Neoplásicas Circulantes/patologia , Prognóstico
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