TY - JOUR
TI - Genomic analysis of head and neck cancer cases from two high incidence
regions
AU - Perdomo, Sandra
AU - Anantharaman, Devasena
AU - Foll, Matthieu and
AU - Abedi-Ardekani, Behnoush
AU - Durand, Geoffroy
AU - Rosa, Luciana Albina
AU - Reis
AU - Holmila, Reetta
AU - Le Calvez-Kelm, Florence
AU - Tajara, Eloiza
AU - H.
AU - Wunsch-Filho, Victor
AU - Levi, Jose Eduardo
AU - Vilensky, Marta
AU - and Polesel, Jerry
AU - Holcatova, Ivana
AU - Simonato, Lorenzo and
AU - Canova, Cristina
AU - Lagiou, Pagona
AU - McKay, James D.
AU - Brennan,
AU - Paul
JO - PLOS ONE
PY - 2018
VL - 13
TODO - 1
SP - null
PB - Public Library of Science
SN - null
TODO - 10.1371/journal.pone.0191701
TODO - null
TODO - 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, 15814 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.
ER -