Publications by authors named "Kay Murphy"

Background: Inhaled corticosteroids (ICSs) are considered the most effective anti-inflammatory therapy for asthma control and management; however, there is substantial treatment response variability.

Objective: We sought to identify genetic markers of ICS response by conducting the largest pharmacogenetic investigation to date in 2672 ICS-treated patients with asthma.

Methods: Genotyping and imputation was performed in fluticasone furoate (FF) or fluticasone propionate-treated patients with asthma from 3 phase IIB and 4 phase IIIA randomized, double-blind, placebo-controlled, parallel group, multicenter studies.

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Article Synopsis
  • - A specific genetic variation (polymorphism) in the FCGR3A gene, known as rs396991, may influence how patients respond to monoclonal antibody treatments, but research on this has been inconsistent.
  • - This polymorphism causes a change in the receptor that increases its affinity for IgG, but accurately determining this variant has been challenging due to similarities between the FCGR3A and FCGR3B genes.
  • - A new method involving PCR amplification and Sanger sequencing has shown reliable results for genotyping rs396991 in European and Asian samples, although a TaqMan assay has shown some inaccuracies in African and American populations.
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The Department of Defense Familial Breast/Ovarian Cancer Research Project has offered genetic counseling and testing for BRCA1 and BRCA2 on a research basis to patients meeting specific diagnostic criteria, with risk for BRCA1 and BRCA2 mutations calculated based on the Couch model. In 2.5 years, 250 patients were evaluated and 101 patients met criteria requirements, including 33 who met criteria in more than one category.

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Patients at high risk for inherited breast and/or ovarian cancer are frequently encountered in all medical specialties. Department of Defense, Health Affairs funding as part of the Breast Cancer Education and Awareness Program was used to develop a comprehensive program for the identification, counseling, genetic testing, and long-term follow-up of such high-risk patients. This article reports the recommendations for high-risk patient management based on 4 years of evaluation and care, including discussions of the approach to counseling, indications for genetic testing, post-testing counseling, patient surveillance with examination, imagining, and laboratory testing, and suggested options for surgical and chemoprophylaxis as well as lifestyle modifications.

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