title: Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
abstract: Ongoing cancer genome characterization studies continue to elucidate the spectrum of genomic abnormalities that drive many cancers, and in the clinical arena assessment of the driver genetic alterations in patients is playing an increasingly important diagnostic and/or prognostic role for many cancer types. However, the landscape of genomic abnormalities is still unknown for less common cancers, and the influence of specific genotypes on clinical behavior is often still unclear. To address some of these deficiencies, we developed Profile, a prospective cohort study to obtain genomic information on all patients at a large tertiary care medical center for cancer-related care. We enrolled patients with any cancer diagnosis, and, for each patient (unselected for cancer site or type) we applied mass spectrometric genotyping (OncoMap) of 471 common recurrent mutations in 41 cancer-related genes. We report the results of the first 5000 patients, of which 26% exhibited potentially actionable somatic mutations. These observations indicate the utility of genotyping in advancing the field of precision oncology.
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts; Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts; Department of Medical Oncology, Harvard Medical School, Boston, Massachusetts. Electronic address: laura_macconaill@dfci.harvard.edu.
authors.forename: Laura E
authors.initials: LE
authors.lastname: MacConaill
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Elizabeth
authors.initials: E
authors.lastname: Garcia
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Priyanka
authors.initials: P
authors.lastname: Shivdasani
authors.affiliation: Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts.
authors.forename: Matthew
authors.initials: M
authors.lastname: Ducar
authors.affiliation: Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts.
authors.forename: Ravali
authors.initials: R
authors.lastname: Adusumilli
authors.affiliation: Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts.
authors.forename: Marc
authors.initials: M
authors.lastname: Breneiser
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Mark
authors.initials: M
authors.lastname: Byrne
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Lawrence
authors.initials: L
authors.lastname: Chung
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Jodie
authors.initials: J
authors.lastname: Conneely
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Lauren
authors.initials: L
authors.lastname: Crosby
authors.affiliation: Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts; Department of Medical Oncology, Harvard Medical School, Boston, Massachusetts.
authors.forename: Levi A
authors.initials: LA
authors.lastname: Garraway
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Xin
authors.initials: X
authors.lastname: Gong
authors.affiliation: Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts; Department of Medical Oncology, Harvard Medical School, Boston, Massachusetts.
authors.forename: William C
authors.initials: WC
authors.lastname: Hahn
authors.affiliation: Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts.
authors.forename: Charlie
authors.initials: C
authors.lastname: Hatton
authors.affiliation: Department of Medical Oncology, Harvard Medical School, Boston, Massachusetts.
authors.forename: Philip W
authors.initials: PW
authors.lastname: Kantoff
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Michael
authors.initials: M
authors.lastname: Kluk
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Frank
authors.initials: F
authors.lastname: Kuo
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Yonghui
authors.initials: Y
authors.lastname: Jia
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Ruchi
authors.initials: R
authors.lastname: Joshi
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Janina
authors.initials: J
authors.lastname: Longtine
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Allison
authors.initials: A
authors.lastname: Manning
authors.affiliation: Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts.
authors.forename: Emanuele
authors.initials: E
authors.lastname: Palescandolo
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Nematullah
authors.initials: N
authors.lastname: Sharaf
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Lynette
authors.initials: L
authors.lastname: Sholl
authors.affiliation: Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts.
authors.forename: Paul
authors.initials: P
authors.lastname: van Hummelen
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Jacqueline
authors.initials: J
authors.lastname: Wade
authors.affiliation: Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts.
authors.forename: Bruce M
authors.initials: BM
authors.lastname: Wollinson
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
authors.forename: Dimity
authors.initials: D
authors.lastname: Zepf
authors.affiliation: Department of Medical Oncology, Harvard Medical School, Boston, Massachusetts.
authors.forename: Barrett J
authors.initials: BJ
authors.lastname: Rollins
authors.affiliation: Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts. Electronic address: nlindeman@partners.org.
authors.forename: Neal I
authors.initials: NI
authors.lastname: Lindeman
mesh_terms: D005838:Genotype; D006801:Humans; D009369:Neoplasms / Q000235:genetics*; D011446:Prospective Studies