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Massive parallel sequencing of head and neck conventional squamous cell carcinomas: A comprehensive review

dc.contributor.authorNadal, Alfons
dc.contributor.authorCardesa, Antonio
dc.contributor.authorAgaimy, Abbas
dc.contributor.authorAlmangush, Alhadi
dc.contributor.authorFranchi, Alessandro
dc.contributor.authorHellquist, Henrik
dc.contributor.authorLeivo, Ilmo
dc.contributor.authorZidar, Nina
dc.contributor.authorFerlito, Alfio
dc.date.accessioned2025-01-09T13:24:40Z
dc.date.available2025-01-09T13:24:40Z
dc.date.issued2024-11-29
dc.description.abstractHead and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer worldwide and is a cause of signifcant mortality and morbidity. The epidemiology of this cancer varies worldwide due to either genetic diferences in populations or diferences in carcinogen exposure. The application of massive parallel sequencing-based techniques in HNSCC should provide a helpful understanding of the genetic alterations that eventually lead to HNSCC development and progression, and ideally, could be used for personalized therapy. In this review, the reader will fnd an overview of the mutational profle of conventional HNSCC according to published results on massive parallel sequencing data that confrm the pivotal role of TP53 and the frequent involvement of CDKN2A and PIK3CA. The reader will also fnd a more detailed description of the genes, such as NOTCH1 and FBXW7, that were not identifed in HNSCCs before the development of these techniques, the diferences that can be site-specifc, such as the diferent mutational signatures that indicate specifc carcinogens for various subsites of the head and neck, and fnally, the actionability of these fndings that should allow more personalized therapy for patients.eng
dc.identifier.doi10.1007/s00428-024-03987-2
dc.identifier.eissn1432-2307
dc.identifier.issn0945-6317
dc.identifier.urihttp://hdl.handle.net/10400.1/26599
dc.language.isoeng
dc.peerreviewedyes
dc.publisherSpringer Science
dc.relation.ispartofVirchows Archiv
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.subjectNGS
dc.subjectLarynx
dc.subjectOral cavity
dc.subjectHypopharynx
dc.subjectOropharynx
dc.subjectMutation
dc.titleMassive parallel sequencing of head and neck conventional squamous cell carcinomas: A comprehensive revieweng
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage976
oaire.citation.issue6
oaire.citation.startPage965
oaire.citation.titleVirchows Archiv
oaire.citation.volume485
oaire.versionhttp://purl.org/coar/version/c_970fb48d4fbd8a85
person.familyNameHellquist
person.givenNameHenrik
person.identifier.ciencia-id9C11-221B-93BF
person.identifier.orcid0000-0003-3044-6065
relation.isAuthorOfPublicatione632b82a-cf09-4f9a-b445-9d9a9de47438
relation.isAuthorOfPublication.latestForDiscoverye632b82a-cf09-4f9a-b445-9d9a9de47438

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