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    Date Issued2014 (1)2013 (1)Author
    Khoury, Muin J. (2)
    Borzecki, Ann M. (1)Chang, Christine Q. (1)Clyne, Melinda (1)Cromwell, Jerry (1)View MoreUMass Chan AffiliationGraduate School of Biomedical Sciences, Clinical and Population Health Research Program (1)UMass Center for Clinical and Translational Science (1)Document TypeJournal Article (2)KeywordMolecular Genetics (2)Neoplasms (2)*Genome-Wide Association Study (1)access (1)cancer (1)View MoreJournalEuropean journal of human genetics : EJHG (1)Genetics in medicine : official journal of the American College of Medical Genetics (1)

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    A systematic review of cancer GWAS and candidate gene meta-analyses reveals limited overlap but similar effect sizes

    Chang, Christine Q.; Yesupriya, Ajay; Rowell, Jessica L.; Pimentel, Camilla B.; Clyne, Melinda; Gwinn, Marta; Khoury, Muin J.; Wulf, Anja; Schully, Sheri D. (2014-03-01)
    Candidate gene and genome-wide association studies (GWAS) represent two complementary approaches to uncovering genetic contributions to common diseases. We systematically reviewed the contributions of these approaches to our knowledge of genetic associations with cancer risk by analyzing the data in the Cancer Genome-wide Association and Meta Analyses database (Cancer GAMAdb). The database catalogs studies published since January 1, 2000, by study and cancer type. In all, we found that meta-analyses and pooled analyses of candidate genes reported 349 statistically significant associations and GWAS reported 269, for a total of 577 unique associations. Only 41 (7.1%) associations were reported in both candidate gene meta-analyses and GWAS, usually with similar effect sizes. When considering only noteworthy associations (defined as those with false-positive report probabilities
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    Utilization of epidermal growth factor receptor (EGFR) testing in the United States: a case study of T3 translational research

    Lynch, Julie A.; Khoury, Muin J.; Borzecki, Ann M.; Cromwell, Jerry; Hayman, Laura L.; Ponte, Pat Reid; Miller, Glenn A.; Lathan, Christopher S. (2013-08-01)
    PURPOSE: We examined hospital use of the epidermal growth factor receptor assay in patients with lung cancer in the United States. Our goal was to inform the development of a model to predict phase 3 translation of guideline-directed molecular diagnostic tests. METHODS: This was a retrospective observational study. Using logistic regression, we analyzed the association between hospitals' institutional and regional characteristics and the likelihood that an epidermal growth factor receptor assay would be ordered. RESULTS: Significant institutional predictors included affiliation with an academic medical center (odds ratio, 1.48; 95% confidence interval, 1.20-1.83), participation in a National Cancer Institute clinical research cooperative group (odds ratio, 2.06, 1.66-2.55), and -availability of positron emission tomography scan (odds ratio, 1.44, 1.07-1.94) and cardiothoracic surgery (odds ratio, 1.90, 1.52-2.37) services. Significant regional predictors included metropolitan county (odds ratio, 2.08, 1.48-2.91), population with above-average education (odds ratio, 1.46, 1.09-1.96), and population with above-average income (odds ratio, 1.46, 1.04-2.05). Distance from a National Cancer Institute cancer center was a negative predictor (odds ratio, 0.996, 0.995-0.998), with a 34% decrease in likelihood for every 100 miles. CONCLUSION: In 2010, only 12% of US acute-care hospitals ordered the epidermal growth factor receptor assay, suggesting that most patients with lung cancer did not have access to this test. This case study illustrated the need for: (i) increased dissemination and implementation research, and (ii) interventions to improve adoption of guideline-directed molecular diagnostic tests by community hospitals.
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