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

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Article numbere0191701
JournalPLoS One
Issue number1
Publication statusPublished - Jan 1 2018

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)
  • Agricultural and Biological Sciences(all)


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