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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.
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
3.
Mutat Res Rev Mutat Res ; 778: 61-71, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30454684

RESUMO

Gallbladder cancer (GBC) is a rare malignancy of biliary tract cancer (BTC), characterized by late presentation and poor prognosis. It exhibits wide geographical as well as ethnical variations. So, diverse epidemiology along with etiological factors have been discussed in the current article. Present review unravels the germ line polymorphisms contributing to GBC susceptibility through candidate gene approach and GWAS. GBC is enriched with multiple mutations consisting of both passenger and driver mutations. The identification of the hotspot driver mutations which are involved in the etiopathogenesis of this cancer is necessary, before targeted therapies could be implemented clinically. Thus, this review sheds lights on both traditional low throughput methods along with high throughput NGS used to determine somatic mutations in cancer. With the advent of GWAS and high throughput sequencing methods, it is possible to comprehend the mutational landscape of this enigmatic disease. This article is the first one to provide insights into the genetic heterogeneity of GBC along with somatic mutational data from Catalogue of Somatic Mutations in Cancer (COSMIC) database. In addition, management of tumor heterogeneity as a therapeutic challenge has been discussed. Future goals involve liquid biopsy based research for better clinical management of the disease. Therefore, research efforts involving discovery of non- invasive markers for early stage cancer detection along with novel therapies should be directed.


Assuntos
Neoplasias do Sistema Biliar/genética , Neoplasias da Vesícula Biliar/genética , Predisposição Genética para Doença , Mutação em Linhagem Germinativa/genética , Neoplasias do Sistema Biliar/patologia , Neoplasias da Vesícula Biliar/patologia , Estudo de Associação Genômica Ampla , Sequenciamento de Nucleotídeos em Larga Escala , Humanos
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