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PLoS One. 2018 Jan 29;13(1):e0191701. doi: 10.1371/journal.pone.0191701. eCollection 2018.

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

Author information

1
International Agency for Research on Cancer (IARC), Lyon, France.
2
Institute of Nutrition, Genetics and Metabolism Research, Faculty of Medicine, Universidad El Bosque, Bogotá, Colombia.
3
Instituto de Medicina Tropical de SP Universidade de São Paulo- USP, São Paulo, Brazil.
4
School of Medicine of São José do Rio Preto, São José do Rio Preto, Brazil.
5
Faculdade de Saúde Pública, Universidade de São Paulo, São Paulo, Brazil.
6
Instituto Angel Roffo, Buenos Aires, Argentina.
7
Centro di Riferimento Oncologico (CRO), Aviano National Cancer Institute, Aviano, Italy.
8
Charles University of Prague, Prague, Czech Republic.
9
Laboratory of Public Health and Population Studies, Padova, Italy.
10
University of Athens Medical School, Athens, Greece.

Abstract

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.

PMID:
29377909
PMCID:
PMC5788352
DOI:
10.1371/journal.pone.0191701
[Indexed for MEDLINE]
Free PMC Article

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