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

BMC Cancer Jun 15, 2018

Grønhøj C, et al. - From a large cohort of locoregionally-advanced human papilloma virus positive (HPV+) oropharyngeal squamous cell carcinomas (OPSCC), researchers sequenced tissue material. In this work, a total of 3,459 mutations were identified with an average of 10 mutations per megabase and a median of 28 variants per sample. KALRN (28%), SPTBN1 (32%), KMT2A (31%), ZNRF3 (9%), BNC2 (12%), NOTCH2 (25%), FGFR2(12%), SMAD2 (6%), and AR (13%) were the most frequently mutated genes. The COSMIC signature 12 was noted to be the most prevalent. The mutations were noted to have both therapeutic and prognostic potential.

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