Risk genes in head and neck cancer: A systematic review and meta-analysis of last 5years

Brunotto, Mabel; Zárate, Alejandro; Bono, Alejandro; Barra, José L.; Berra, Silvina

doi:10.1016/j.oraloncology.2013.12.007

Cited by 48 publications

(42 citation statements)

References 54 publications

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“…Molecular alterations are starting to directly affect the approach to patient care and are currently the subject of investigation in numerous clinical trials [15,16]. We wanted to explore the potential efficacy of implementing higher throughput strategies that combine targeted differential gene expression mutation profiling to help improve stratification of SCCHN by risk categories for both HPV-positive and negative disease.…”

Section: Introductionmentioning

confidence: 99%

Mutation and Transcriptional Profiling of Formalin-Fixed Paraffin Embedded Specimens as Companion Methods to Immunohistochemistry for Determining Therapeutic Targets in Oropharyngeal Squamous Cell Carcinoma (OPSCC): A Pilot of Proof of Principle

Saba

Wilson

Doho

et al. 2014

Head and Neck Pathol

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The role of molecular methods in the diagnosis of head and neck cancer is rapidly evolving and holds great potential for improving outcomes for all patients who suffer from this diverse group of malignancies. However, there is considerable debate as to the best clinical approaches, particularly for Next Generation Sequencing (NGS). The choices of NGS methods such as whole exome, whole genome, whole transcriptomes (RNA-Seq) or multiple gene resequencing panels, each have strengths and weakness based on data quality, the size of the data, the turnaround time for data analysis, and clinical actionability. There have also been a variety of gene expression signatures established from microarray studies that correlate with relapse and response to treatment, but none of these methods have been implemented as standard of care for oropharyngeal squamous cell carcinoma (OPSCC). Because many genomic methodologies are still far from the capabilities of most clinical laboratories, we chose to explore the use of a combination of off the shelf targeted mutation analysis and gene expression analysis methods to complement standard anatomical pathology methods. Specifically, we have used the Ion Torrent AmpliSeq cancer panel in combination with the NanoString nCounter Human Cancer Reference Kit on 8 formalin-fixed paraffin embedded (FFPE) OPSCC tumor specimens, (4) HPVpositive and (4) HPV-negative. Differential expression analysis between HPV-positive and negative groups showed that expression of several genes was highly likely to correlate with HPV status. For example, WNT1, PDGFA and OGG1 were all over-expressed in the positive group. Our results show the utility of these methods with routine FFPE clinical specimens to identify potential therapeutic targets which could be readily applied in a clinical trial setting for clinical laboratories lacking the instrumentation or bioinformatics infrastructure to support comprehensive genomics workflows. To the best of our knowledge, these preliminary experiments are among the earliest to combine both mutational and gene expression profiles using Ion Torrent and NanoString technologies. This reports serves as a proof of principle methodology in OPSCC.Electronic supplementary material The online version of this article

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Section: Introductionmentioning

confidence: 99%

Mutation and Transcriptional Profiling of Formalin-Fixed Paraffin Embedded Specimens as Companion Methods to Immunohistochemistry for Determining Therapeutic Targets in Oropharyngeal Squamous Cell Carcinoma (OPSCC): A Pilot of Proof of Principle

Saba

Wilson

Doho

et al. 2014

Head and Neck Pathol

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“…The transcribed proteins for the polymorphisms have been shown to be different, structurally by electrophoretic mobility assay and functionally in vitro, with the p53 (Pro\Pro) variant protein being a stronger inducer of transcription and showing slower kinetics in inducing apoptosis than the p53 (Arg) genotype, and with the p53 (Arg) type also suppressing transformation of primary cells to a greater degree than the p53 (Pro) type 55 . However, our own recent study in relation to SNP and risk head and neck cancer reported no significant association with TP53 8 . At the level of epidemiological studies in various cancers, the association of this polymorphism with cancer is controversial and there is scant literature on this in relation to oral cancer 56 .…”

Section: Discussionmentioning

confidence: 66%

“…It also enables stronger and more generalized conclusions for identifying some models of risk markers that predict risks of oral cáncer and/or tumor progression, in order to improve prevention, early detection (mainly in patients with OPMD) and treatment [4][5][6][7] . In a previous work about the association of single nucleotide polymorphisms (SNP) in head and neck cancer, we showed that people considered at risk of developing head and neck carcinomas have an increase of gene polymorphism expression related to inflammation, carcinogenic metabolism, the stabilization and repair of the cellular genome, regulation of proliferation and/or apoptosis 8 . The main question is if SNPs associated with oral cancer are present in patients with OPMD.…”

Section: Introductionmentioning

confidence: 99%

Polimorfismos genéticos en desórdenes potencialmente malignos, una revision sistematica

Bono

2017

RevFacOdont

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ResumenLos desórdenes orales potencialmente malignos (DOPM), generalmente, pueden ser predecesores del desarrollo del cáncer oral. El mayor desafío es poder predecir, mediante los SNP presentes en los individuos con lesiones, el progreso hacia un carcinoma oral…pueden progresar hacia un carcinoma oral según los polimorfismos de un solo nucleótido (SNP) presentes en los individuos con estas lesiones. Los meta-análisis de estudios sobre asociaciones genéticas son claves para establecer los componentes genéticos de las enfermedades complejas que permitan avanzar en estrategias terapéuticas y diagnóstico clínico temprano. Objetivo: Identificar la asociación entre las variantes polimórficas (SNPs) de genes relacionados con el cancer oral presentes en lesiones potencialmente malignas estudiados recientemente, y el desarrollo en ellas de malignidad. Métodos: según delineamientos PRISMA, y las bases electrónicas utilizadas fueron: PubMed, Scopus, CancerLit y Cochrane. Se seleccionaron 27 estudios que reunieron los criterios de inclusión/exclusión entre enero de 2004 y diciembre de 2015. Se extrajeron datos de los SNPs bialélicos, odds ratios y IC 95%; para valorar fuerza de asociación entre cada variante genética y presencia de DOPM. La heterogeneidad fue analizada por la prueba Q y cuantificada por pruebas Tau2 y el estadístico I2. Se utilizó el paquete meta R software 2.15.3. Resultados: Los 27 estudios sumaron un total de 2915 casos y 4715 controles. Los siguientes polimorfismos se observaron asociados a leucoplasia oral: CYPA1 (m1/m2), XDP (Gln/Gln), GSTM1 (null), and P53 (intron6). Los polimorfismos asociados con lesiones de liquen plano fueron: CIITA (rs6498122), TNFR2 (+587), TNFα (-308), and P53 codon72. Los polimorfismos asociados a fibrosis submucosa fueron MICA, NAT2 Lys268Arg, NAT2 Gly286Glu, XRCC3 Thr241Met, COX2 -765; G>C, FAS 1377, G>A y FAS 670, A>G. Conclusiones: Los genotipos fueron heterocigotas u homocigotos para la variante polimórfica. Los SNP de los genes mencionados se asocian a riesgo de cáncer de cabeza y cuello, por lo cual la presencia de estos SNP podría ser indicativos de mayor riesgo de desarrollo de cáncer.PALABRAS CLAVES: revisión sistemática -desordenes potencialmente malignos -cáncer oralpolimorfismos. AbstractObjective. To identify the association between polymorphic variants (SNPs) of genes related to oral cancer present in potentially malignant lesions studied recently, and the development of malignancies. Study Design. A systematic review was conducted of literature in PubMed,

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“…Siendo el cáncer y la enfermedad celíaca patologías complejas no transmisibles, y su incidencia está altamente relacionada a determinantes sociales de la salud como son los socio-económicos y culturales. [4][5] Dentro de los trabajos recientes que hemos publicado en estas áreas se encuentran los estudios Prevención y diagnóstico temprano de enfermedades complejas no transmisibles: Un objetivo a lograr en Salud Pública.…”

Section: Editorialunclassified

“…4 En relación a los cánceres y/o desórdenes potencialmente malignos orales hemos avanzado en la determinación de modelos de riesgo identificando polimorfismos genéticos de riesgo en la población como son los relacionados al metabolismo del tabaco, a procesos inflamatorios, a los procesos de estabilidad del RNA mensajero y de mutaciones de genes relacionados a la reparación del genoma, mientras que dentro de los polimorfismos con un efecto protector sobre el desarrollo de estas patologías malignas y pre-malignas, se mencionan los polimorfismos relacionados al metabolismo de alcohol y a la reparación del DNA. 5 Las conclusiones más relevantes de nuestro trabajo es que el trabajo interdisciplinario, de un equipo de profesionales de la salud pertenecientes a diversas áreas, permite un adecuado abordaje de las patologías complejas y que la mejor estrategia metodológica para las enfermedades complejas es el diagnóstico temprano y el monitoreo de grupos de riesgo y el seguimiento del cumplimiento de las terapias en pacientes diagnosticados.…”

Section: Editorialunclassified

Prevención y diagnóstico temprano de enfermedades complejas no transmisibles: Un objetivo a lograr en salud pública.

Brunotto

2014

J Oral Res

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Risk genes in head and neck cancer: A systematic review and meta-analysis of last 5years

Cited by 48 publications

References 54 publications

Mutation and Transcriptional Profiling of Formalin-Fixed Paraffin Embedded Specimens as Companion Methods to Immunohistochemistry for Determining Therapeutic Targets in Oropharyngeal Squamous Cell Carcinoma (OPSCC): A Pilot of Proof of Principle

Mutation and Transcriptional Profiling of Formalin-Fixed Paraffin Embedded Specimens as Companion Methods to Immunohistochemistry for Determining Therapeutic Targets in Oropharyngeal Squamous Cell Carcinoma (OPSCC): A Pilot of Proof of Principle

Polimorfismos genéticos en desórdenes potencialmente malignos, una revision sistematica

Prevención y diagnóstico temprano de enfermedades complejas no transmisibles: Un objetivo a lograr en salud pública.

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