Forskning
Udskriv Udskriv
Switch language
Rigshospitalet - en del af Københavns Universitetshospital
Udgivet

Deep sequencing of human papillomavirus positive loco-regionally advanced oropharyngeal squamous cell carcinomas reveals novel mutational signature

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

DOI

  1. Ciliary Localization of the Intraflagellar Transport Protein IFT88 Is Disrupted in Cystic Fibrosis

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  2. Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  3. Primary ciliary dyskinesia patients have the same P. aeruginosa clone in sinuses and lungs

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

  4. Variant in ERAP1 promoter region is associated with low expression in a patient with a Behçet-like MHC-I-opathy

    Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

Vis graf over relationer

BACKGROUND: The genetic profile for human papilloma virus positive (HPV+) oropharyngeal squamous cell carcinomas (OPSCC) remains largely unknown. The purpose of this study was to sequence tissue material from a large cohort of locoregionally-advanced HPV+ OPSCCs.

METHODS: We performed targeted deep sequencing of 395 cancer-associated genes in 114 matched tumor/normal loco-regionally advanced HPV+ OPSCCs. Mutations and copy number aberrations were determined.

RESULTS: We identified a total of 3459 mutations with an average of 10 mutations per megabase and a median of 28 variants per sample. The most frequently mutated genes were KALRN (28%), SPTBN1 (32%), KMT2A (31%), ZNRF3 (9%), BNC2 (12%), NOTCH2 (25%), FGFR2 (12%), SMAD2 (6%), and AR (13%). Our findings were dominated by COSMIC signature 5 and 12, represented in other head and neck cancers and in hepatocellular carcinomas, respectively.

CONCLUSIONS: We have identified multiple genetic aberrations in HPV+ OPSCCs, and the COSMIC signature 12 as most prevalent. The mutations harbour both therapeutic and prognostic potential.

OriginalsprogEngelsk
TidsskriftBMC Cancer
Vol/bind18
Udgave nummer1
Sider (fra-til)640
ISSN1471-2407
DOI
StatusUdgivet - 7 jun. 2018

ID: 55218921