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

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

doi:10.1371/journal.pone.0191701

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

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

Centro di Riferimento Oncologico

Research output: Contribution to journal › Article

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	https://doi.org/10.1371/journal.pone.0191701
Publication status	Published - Jan 1 2018

Fingerprint

ASJC Scopus subject areas

Biochemistry, Genetics and Molecular Biology(all)
Agricultural and Biological Sciences(all)

Cite this

Perdomo, S., Anantharaman, D., Foll, M., Abedi-Ardekani, B., Durand, G., Reis Rosa, L. A., Holmila, R., Le Calvez-Kelm, F., Tajara, E. H., Wünsch-Filho, V., Levi, J. E., Vilensky, M., Polesel, J., Holcatova, I., Simonato, L., Canova, C., Lagiou, P., McKay, J. D., & Brennan, P. (2018). Genomic analysis of head and neck cancer cases from two high incidence regions. PLoS One, 13(1), [e0191701]. https://doi.org/10.1371/journal.pone.0191701

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

Perdomo, S, Anantharaman, D, Foll, M, Abedi-Ardekani, B, Durand, G, Reis Rosa, LA, Holmila, R, Le Calvez-Kelm, F, Tajara, EH, Wünsch-Filho, V, Levi, JE, Vilensky, M, Polesel, J, Holcatova, I, Simonato, L, Canova, C, Lagiou, P, McKay, JD & Brennan, P 2018, 'Genomic analysis of head and neck cancer cases from two high incidence regions', PLoS One, vol. 13, no. 1, e0191701. https://doi.org/10.1371/journal.pone.0191701

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. / Genomic analysis of head and neck cancer cases from two high incidence regions. In: PLoS One. 2018 ; Vol. 13, No. 1.

@article{616bffac51ca45d29b04e9b620d84724,

title = "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.",

author = "Sandra Perdomo and Devasena Anantharaman and Matthieu Foll and Behnoush Abedi-Ardekani and Geoffroy Durand and {Reis Rosa}, {Luciana Albina} and Reetta Holmila and {Le Calvez-Kelm}, Florence and Tajara, {Eloiza H.} and Victor W{\"u}nsch-Filho and Levi, {Jos{\'e} Eduardo} and Marta Vilensky and Jerry Polesel and Ivana Holcatova and Lorenzo Simonato and Cristina Canova and Pagona Lagiou and McKay, {James D.} and Paul Brennan",

year = "2018",

month = jan

day = "1",

doi = "10.1371/journal.pone.0191701",

language = "English",

volume = "13",

journal = "PLoS One",

issn = "1932-6203",

publisher = "Public Library of Science",

number = "1",

}

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 -

Access to Document

10.1371/journal.pone.0191701