Genomics

Our lab applies next-generation DNA sequencing technologies to probe the genomic infrastructure of skull base tumors, including meningiomas, acoustic neuromas, and pituitary tumors.

Recent investigations have uncovered recurrent somatic mutations in 4 genes AKT1, SMO, TRAF7, and KLF4, which are present in up to 40% of sporadic meningiomas and may contribute to their oncogenesis.

Current studies continue to explore candidate driver mutations and chromosomal alterations in aggressive phenotypes of skull base tumors, with the hope of leading to new effective therapies for these challenging diseases.

Brastianos PK^*, Horowitz PM^*, Santagata S, Jones RT, McKenna A, Getz G, Ligon KL, Palescandolo E, Van Hummelen P, Ducar MD, Raza A, Sunkavalli A, Macconaill LE, Stemmer-Rachamimov AO, Louis DN, Hahn WC^§, Dunn IF^§, Beroukhim R^§. Genomic sequencing of meningiomas identifies oncogenic SMO and AKT1 mutations. Nature Genetics. 2013 Mar;45(3):285-9. PMID: 23334667

Genomics

Our lab applies next-generation DNA sequencing technologies to probe the genomic infrastructure of skull base tumors, including meningiomas, acoustic neuromas, and pituitary tumors.

Recent investigations have uncovered recurrent somatic mutations in 4 genes AKT1, SMO, TRAF7, and KLF4, which are present in up to 40% of sporadic meningiomas and may contribute to their oncogenesis.

Current studies continue to explore candidate driver mutations and chromosomal alterations in aggressive phenotypes of skull base tumors, with the hope of leading to new effective therapies for these challenging diseases.

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