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Genomic analysis of head and neck cancer cases from two high incidence regions

by Perdomo, Sandra , Levi, José Eduardo , Abedi-Ardekani, Behnoush , Simonato, Lorenzo , Tajara, Eloiza H. , Foll, Matthieu , Canova, Cristina , Brennan, Paul , Holmila, Reetta , Anantharaman, Devasena , Wünsch-Filho, Victor , McKay, James D. , Lagiou, Pagona , Vilensky, Marta , Reis Rosa, Luciana Albina , Durand, Geoffroy , Le Calvez-Kelm, Florence , Polesel, Jerry , Holcatova, Ivana

in Adolescent / Adult / Aged / Alcohol use / Amplification / Biology and Life Sciences / Cancer / Cell cycle / Chromosomes, Human / Copy number / DNA Copy Number Variations / Environmental changes / Female / Gene expression / Gene sequencing / Genes / Genomes / Genomic analysis / Head & neck cancer / Head and neck cancer / Head and Neck Neoplasms - epidemiology / Head and Neck Neoplasms - genetics / Health risk assessment / Human papillomavirus / Humans / Incidence / Laboratories / Male / Medical prognosis / Medicine / Medicine and Health Sciences / Middle Aged / Mutation / p53 Protein / Public health / Risk analysis / Risk factors / Smoking / Squamous cell carcinoma / Studies / Survival / Survival Analysis / Tumors / Young Adult

2018

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Genomic analysis of head and neck cancer cases from two high incidence regions

2018

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Genomic analysis of head and neck cancer cases from two high incidence regions

2018

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Journal Article

Genomic analysis of head and neck cancer cases from two high incidence regions

Perdomo, Sandra,

Levi, José Eduardo,

Abedi-Ardekani, Behnoush,

Simonato, Lorenzo,

Tajara, Eloiza H.,

Foll, Matthieu,

Canova, Cristina,

Brennan, Paul,

Holmila, Reetta,

Anantharaman, Devasena,

Wünsch-Filho, Victor,

McKay, James D.,

Lagiou, Pagona,

Vilensky, Marta,

Reis Rosa, Luciana Albina,

Durand, Geoffroy,

Le Calvez-Kelm, Florence,

Polesel, Jerry,

Holcatova, Ivana

2018

Overview

We investigated how somatic changes in HNSCC interact with environmental and host risk factors and whether they influence the risk of HNSCC occurrence and outcome. 180-paired samples diagnosed as HNSCC in two high incidence regions of Europe and South America underwent targeted sequencing (14 genes) and evaluation of copy number alterations (SCNAs). TP53, PIK3CA, NOTCH1, TP63 and CDKN2A were the most frequently mutated genes. Cases were characterized by a low copy number burden with recurrent focal amplification in 11q13.3 and deletion in 15q22. Cases with low SCNAs showed an improved overall survival. We found significant correlations with decreased overall survival between focal amplified regions 4p16, 10q22 and 22q11, and losses in 12p12, 15q14 and 15q22. The mutational landscape in our cases showed an association to both environmental exposures and clinical characteristics. We confirmed that somatic copy number alterations are an important predictor of HNSCC overall survival.

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Publisher

Public Library of Science,Public Library of Science (PLoS)

Subject

Adolescent

/ Adult

/ Aged

/ Alcohol use

/ Amplification

/ Biology and Life Sciences

/ Cancer