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