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.
| Original language | English |
|---|---|
| Article number | e0191701 |
| Journal | PLoS One |
| Volume | 13 |
| Issue number | 1 |
| DOIs | |
| Publication status | Published - Jan 1 2018 |
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ASJC Scopus subject areas
- Biochemistry, Genetics and Molecular Biology(all)
- Agricultural and Biological Sciences(all)
Cite this
Genomic analysis of head and neck cancer cases from two high incidence regions. / Perdomo, Sandra; Anantharaman, Devasena; Foll, Matthieu; Abedi-Ardekani, Behnoush; Durand, Geoffroy; Reis Rosa, Luciana Albina; Holmila, Reetta; Le Calvez-Kelm, Florence; Tajara, Eloiza H.; Wünsch-Filho, Victor; Levi, José Eduardo; Vilensky, Marta; Polesel, Jerry; Holcatova, Ivana; Simonato, Lorenzo; Canova, Cristina; Lagiou, Pagona; McKay, James D.; Brennan, Paul.
In: PLoS One, Vol. 13, No. 1, e0191701, 01.01.2018.Research output: Contribution to journal › Article
}
TY - JOUR
T1 - Genomic analysis of head and neck cancer cases from two high incidence regions
AU - Perdomo, Sandra
AU - Anantharaman, Devasena
AU - Foll, Matthieu
AU - Abedi-Ardekani, Behnoush
AU - Durand, Geoffroy
AU - Reis Rosa, Luciana Albina
AU - Holmila, Reetta
AU - Le Calvez-Kelm, Florence
AU - Tajara, Eloiza H.
AU - Wünsch-Filho, Victor
AU - Levi, José Eduardo
AU - Vilensky, Marta
AU - Polesel, Jerry
AU - Holcatova, Ivana
AU - Simonato, Lorenzo
AU - Canova, Cristina
AU - Lagiou, Pagona
AU - McKay, James D.
AU - Brennan, Paul
PY - 2018/1/1
Y1 - 2018/1/1
N2 - 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.
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.
UR - http://www.scopus.com/inward/record.url?scp=85041218390&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85041218390&partnerID=8YFLogxK
U2 - 10.1371/journal.pone.0191701
DO - 10.1371/journal.pone.0191701
M3 - Article
C2 - 29377909
AN - SCOPUS:85041218390
VL - 13
JO - PLoS One
JF - PLoS One
SN - 1932-6203
IS - 1
M1 - e0191701
ER -