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Genomic analysis of head and neck cancer cases from two high incidence regions
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)...
| Autores principales: | , , , , , , , , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2018
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5788352/ https://www.ncbi.nlm.nih.gov/pubmed/29377909 http://dx.doi.org/10.1371/journal.pone.0191701 |
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| author | 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 |
| author_facet | 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 |
| author_sort | Perdomo, Sandra |
| collection | PubMed |
| description | 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. |
| format | Online Article Text |
| id | pubmed-5788352 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2018 |
| publisher | Public Library of Science |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-57883522018-02-09 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 PLoS One Research Article 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. Public Library of Science 2018-01-29 /pmc/articles/PMC5788352/ /pubmed/29377909 http://dx.doi.org/10.1371/journal.pone.0191701 Text en © 2018 Perdomo et al http://creativecommons.org/licenses/by/4.0/ This is an open access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/) , which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited. |
| spellingShingle | Research Article 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 |
| title | Genomic analysis of head and neck cancer cases from two high incidence regions |
| title_full | Genomic analysis of head and neck cancer cases from two high incidence regions |
| title_fullStr | Genomic analysis of head and neck cancer cases from two high incidence regions |
| title_full_unstemmed | Genomic analysis of head and neck cancer cases from two high incidence regions |
| title_short | Genomic analysis of head and neck cancer cases from two high incidence regions |
| title_sort | genomic analysis of head and neck cancer cases from two high incidence regions |
| topic | Research Article |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5788352/ https://www.ncbi.nlm.nih.gov/pubmed/29377909 http://dx.doi.org/10.1371/journal.pone.0191701 |
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