Genomic analysis of head and neck cancer cases from two high incidence regions.
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.
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BibTeX
@article{perdomo2026genomic,
title = {{Genomic analysis of head and neck cancer cases from two high incidence regions.}},
author = {Sandra Perdomo and Devasena Anantharaman and Matthieu Foll and Behnoush Abedi-Ardekani and Geoffroy Durand and Luciana Albina Reis Rosa and Reetta Holmila and Florence Le Calvez-Kelm and Eloiza H Tajara and Victor Wünsch-Filho and José Eduardo Levi and Marta Vilensky and Jerry Polesel and Ivana Holcatova and Lorenzo Simonato and Cristina Canova and Pagona Lagiou and James D Mckay and Paul Brennan},
journal = {PLoS ONE},
year = {2026},
month = oct,
doi = {10.1371/journal.pone.0191701},
url = {https://hal.science/hal-05842041v1},
note = {CC BY},
}
RIS
TY - JOUR
TI - Genomic analysis of head and neck cancer cases from two high incidence regions.
AU - Sandra Perdomo
AU - Devasena Anantharaman
AU - Matthieu Foll
AU - Behnoush Abedi-Ardekani
AU - Geoffroy Durand
AU - Luciana Albina Reis Rosa
AU - Reetta Holmila
AU - Florence Le Calvez-Kelm
AU - Eloiza H Tajara
AU - Victor Wünsch-Filho
AU - José Eduardo Levi
AU - Marta Vilensky
AU - Jerry Polesel
AU - Ivana Holcatova
AU - Lorenzo Simonato
AU - Cristina Canova
AU - Pagona Lagiou
AU - James D Mckay
AU - Paul Brennan
PY - 2026
DA - 2026/10/28
JO - PLoS ONE
DO - 10.1371/journal.pone.0191701
UR - https://hal.science/hal-05842041v1
AB - 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.
SN - 1932-6203
SN - 1932-6203
ER -