Rapid targeted mutational analysis of human tumours: a clinical platform to guide personalized cancer medicine

Targeted cancer therapy requires the rapid and accurate identification of genetic abnormalities predictive of therapeutic response. We sought to develop a high-throughput genotyping platform that would allow prospective patient selection to the best available therapies, and that could readily and inexpensively be adopted by most clinical laboratories. We developed a highly sensitive multiplexed clinical assay that performs very well with nucleic acid derived from formalin fixation and paraffin embedding (FFPE) tissue, and tests for 120 previously described mutations in 13 cancer genes. Genetic profiling of 250 primary tumours was consistent with the documented oncogene mutational spectrum and identified rare events in some cancer types. The assay is currently being used for clinical testing of tumour samples and contributing to cancer patient management. This work therefore establishes a platform for real-time targeted genotyping that can be widely adopted. We expect that efforts like this one will play an increasingly important role in cancer management

J Womens Health (Larchmt)

BackgroundIdentifying and treating chronic diseases, their precursors, and other cardiovascular disease (CVD) risk factors during family planning visits may improve long-term health and reproductive outcomes among low-income women. A cross-sectional study design was used to describe the prevalence of chronic diseases (hypertension, high cholesterol, and diabetes), their precursors (pre-hypertension, borderline high cholesterol, and pre-diabetes), and related CVD risk factors (such as obesity, smoking, and physical inactivity) among low-income women of reproductive age.MethodsPrevalence of chronic diseases, their precursors, and related CVD risk factors were assessed for 462 out of 859 (53.8%) female family planning patients, ages 18\u201344 years, who attended a Title X clinic in eastern North Carolina during 2011 and 2012 and consented to participate. Data were obtained from clinical measurements, blood test results, and questionnaire. Differences in distribution of demographic and health care characteristics and CVD risk factors by presence of prehypertension and pre-diabetes were assessed by Pearson chi-square tests.ResultsThe prevalence of hypertension was 12%, high cholesterol 16%, and diabetes 3%. Nearly two-thirds of women with hypertension were newly diagnosed (62%) as were 75% of women with diabetes. The prevalence of pre-hypertension was 35%, pre-diabetes 31%, obesity 41%, smoking 32%, and physical inactivity 42%. The majority of participants (87%) had one or more chronic disease or related cardiovascular disease risk factor.ConclusionsCVD screening during family planning visits can identify significant numbers of women at risk for poor pregnancy outcomes and future chronic disease and can provide prevention opportunities if effective interventions are available and acceptable to this population.20132015-04-06T00:00:00ZCC999999/Intramural CDC HHS/United States5U48DP001944/DP/NCCDPHP CDC HHS/United States23531099PMC4386647673