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J Mol Diagn. 2014 Nov;16(6):660-72. doi: 10.1016/j.jmoldx.2014.06.004. Epub 2014 Aug 23.

Prospective enterprise-level molecular genotyping of a cohort of cancer patients.

Author information

1
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.
2
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts.
3
Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts.
4
Center for Cancer Genome Discovery, Dana-Farber Cancer Institute, Boston, Massachusetts; Department of Medical Oncology, Harvard Medical School, Boston, Massachusetts.
5
Department of Medical Oncology, Harvard Medical School, Boston, Massachusetts.
6
Department of Pathology, Brigham and Women's Hospital, Boston, Massachusetts. Electronic address: nlindeman@partners.org.

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.

PMID:
25157968
PMCID:
PMC4210463
DOI:
10.1016/j.jmoldx.2014.06.004
[Indexed for MEDLINE]
Free PMC Article

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