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

Author(s):Show less -

Perdomo, Sandra ^{[1, 2]} ; Anantharaman, Devasena ^{[1, 3]} ; Foll, Matthieu ^[1] ; Abedi-Ardekani, Behnoush ^[1] ; Durand, Geoffroy ^[1] ; Rosa, Luciana Albina Reis ^[4] ; Holmila, Reetta ^{[1, 5]} ; Le Calvez-Kelm, Florence ^[1] ; Tajara, Eloiza H. ^[6] ; Wunsch-Filho, Victor ^[7] ; Levi, Jose Eduardo ^[4] ; Vilensky, Marta ^[8] ; Polesel, Jerry ^[9] ; Holcatova, Ivana ^[10] ; Simonato, Lorenzo ^[11] ; Canova, Cristina ^[11] ; Lagiou, Pagona ^[12] ; McKay, James D. ^[1] ; Brennan, Paul ^[1]

Affiliation:Show less -

^[1] IARC, Lyon - France

^[2] Univ El Bosque, Inst Nutr Genet & Metab Res, Fac Med, Bogota - Colombia

^[3] Raj Gandhi Ctr Biotechnol, Thycaud PO, Trivandrum, Kerala - India

^[4] Univ Sao Paulo, Inst Med Trop SP, Sao Paulo - Brazil

^[5] Wake Forest Sch Med, Mol Med Sect, Winston Salem, NC - USA

^[6] Sch Med Sao Jose do Rio Preto, Sao Jose Do Rio Preto - Brazil

^[7] Univ Sao Paulo, Fac Saude Publ, Sao Paulo - Brazil

^[8] Inst Angel Roffo, Buenos Aires, DF - Argentina

^[9] Aviano Natl Canc Inst, CRO, Aviano - Italy

^[10] Charles Univ Prague, Prague - Czech Republic

^[11] Lab Publ Hlth & Populat Studies, Padua - Italy

^[12] Univ Athens, Med Sch, Athens - Greece

• Document type: Journal article
• Source: PLoS One; v. 13, n. 1 JAN 29 2018.
• Web of Science Citations: 2

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, 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. (AU)

• FAPESP's process: 10/51168-0 - Environmental, clinical, histopathological and molecular factors associated with development and prognosis of head and neck squamous cell carcinomas
• Grantee: Eloiza Helena Tajara da Silva
• Support Opportunities: Research Projects - Thematic Grants
• FAPESP's process: 04/12054-9 - Markers of aggressive behavior in head and neck tumors
• Grantee: Eloiza Helena Tajara da Silva
• Support Opportunities: Research Projects - Thematic Grants