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Disclaimer: These recommendations are designed primarily as an educational resource for medical geneticists and other health-care providers to help them provide quality medical genetics services. Adherence to these recommendations does not necessarily ensure a successful medical outcome. These recommendations should not be considered inclusive of all proper procedures and tests or exclusive of other procedures and tests that are reasonably directed to obtaining the same results. In determining the propriety of any specific procedure or test, geneticists and other clinicians should apply their own professional judgment to the specific clinical circumstances presented by the individual patient or specimen. It may be prudent, however, to document in the patient's record the rationale for any significant deviation from these recommendations. © 2015 American College of Medical Genetics and Genomics.

Schwartz A.L.,Foundation Medicine
Medicine and Science in Sports and Exercise | Year: 2010

EXPERT PANEL: Kathryn H. Schmitz, PhD, MPH, FACSMKerry S. Courneya, PhDCharles Matthews, PhD, FACSMWendy Demark-Wahnefried, PhDDaniel A. Galvão, PhDBernardine M. Pinto, PhDMelinda L. Irwin, PhD, FACSMKathleen Y. Wolin, ScD, FACSMRoanne J. Segal, MD, FRCPAlejandro Lucia, MD, PhDCarole M. Schneider, PhD, FACSMVivian E. von Gruenigen, MDAnna L. Schwartz, PhD, FAANEarly detection and improved treatments for cancer have resulted in roughly 12 million survivors alive in the United States today. This growing population faces unique challenges from their disease and treatments, including risk for recurrent cancer, other chronic diseases, and persistent adverse effects on physical functioning and quality of life. Historically, clinicians advised cancer patients to rest and to avoid activity; however, emerging research on exercise has challenged this recommendation. To this end, a roundtable was convened by American College of Sports Medicine to distill the literature on the safety and efficacy of exercise training during and after adjuvant cancer therapy and to provide guidelines. The roundtable concluded that exercise training is safe during and after cancer treatments and results in improvements in physical functioning, quality of life, and cancer-related fatigue in several cancer survivor groups. Implications for disease outcomes and survival are still unknown. Nevertheless, the benefits to physical functioning and quality of life are sufficient for the recommendation that cancer survivors follow the 2008 Physical Activity Guidelines for Americans, with specific exercise programming adaptations based on disease and treatment-related adverse effects. The advice to "avoid inactivity," even in cancer patients with existing disease or undergoing difficult treatments, is likely helpful. Copyright © 2010 by the American College of Sports Medicine.

Gleicher N.,Foundation Medicine
Human Reproduction | Year: 2013

In this issue of the journal, Niinimäki et al., colleagues from a pioneering Finnish center in the development of elective single-embryo transfer (eSET), propose the expansion of eSET to suitable women at ages of 40-44 years. This paper offers not only a critique of their proposal but also of eSET in general. © 2012 The Author.

Byrd J.W.T.,Foundation Medicine
American Journal of Sports Medicine | Year: 2014

Hip disorders are increasingly recognized as a cause of dysfunction and disability among athletes. Femoroacetabular impingement (FAI) is a common source of hip problems. While FAI may sometimes be present as an incidental asymptomatic finding, substantial secondary joint damage may occur. This problem is often observed in young adult, and even adolescent, athletes. FAI morphology results in a breakdown of the labrum and articular surfaces from forces generated during sporting activities that would otherwise be well tolerated by a normal joint. A description of the pathomechanics is included. Detection of pathological FAI is important to minimize its harmful effects. The history, examination findings, and pertinent imaging studies are detailed. Nonoperative measures, including training modifications and pelvic stabilization exercises, may be of some benefit in modulating symptoms. When secondary joint damage has occurred, surgical intervention is usually necessary. While most can be managed with arthroscopic techniques, open and mini-open methods are discussed as well. With proper recognition and treatment, most athletes can expect to return to sports, although the long-term implications of high-level activities must still be considered. These results are summarized. © 2013 The Author(s).

Johnston S.R.D.,Foundation Medicine
Clinical Cancer Research | Year: 2010

Endocrine therapy has led to a significant improvement in outcomes for women with estrogen receptor-positive (ER+) breast cancer. Current questions in the adjuvant setting include the optimal duration of endocrine therapy, and the accurate molecular prediction of endocrine responsiveness using gene array-based assays compared with ER expression itself. In advanced disease, novel selective estrogen receptor antagonists (SERM) have failed to make an impact, although the pure ER antagonist fulvestrant may have a role, albeit optimal dose and sequence remain unclear. Overcoming de novo or acquired endocrine resistance remains critical to enhancing further the benefit of existing endocrine therapies. Recent progress has been made in understanding the molecular biology associated with acquired endocrine resistance, including adaptive "cross-talk" between ER and peptide growth factor receptor pathways such as epidermal growth factor receptor (EGFR)/human epidermal growth factor receptor 2 (HER2). Future strategies that are being evaluated include combining endocrine therapy with inhibitors of growth factor receptors or downstream signaling pathways, to treat or prevent critical resistance pathways that become operative in ER+ tumors. Preclinical experiments have provided great promise for this approach, although clinical data remain mixed. Enriching trial recruitment by molecular profiling of different ER+ subtypes will become increasingly important to maximize additional benefit that new agents may bring to current endocrine therapies for breast cancer. ©2010 AACR.

Byrd J.W.,Foundation Medicine
The American journal of sports medicine | Year: 2011

Hip pathology is a significant source of pain and dysfunction among athletic individuals and femoroacetabular impingement is often a causative factor. Arthroscopic intervention has been proposed to address the joint damage and underlying impingement. Arthroscopy may be effective in the management of symptomatic femoroacetabular impingement in athletes. Case series, Level of evidence, 4. All patients undergoing hip arthroscopy at 1 institution were prospectively assessed with a modified Harris hip score obtained preoperatively and postoperatively at 3, 12, 24, 60, and 120 months. This report consists of a cohort of 200 patients identified who underwent arthroscopic management of femoroacetabular impingement, participated in athletic activities, and had achieved minimum 1-year follow up. There was 100% follow-up at an average of 19 months (range, 12-60 months). A total of 116 athletes had achieved 2-year follow-up. For the entire cohort, the average age was 28.6 years (range, 11-60 years) with 148 males and 52 females. There were 159 cam, 31 combined, and 10 pincer lesions. There were 23 professional, 56 intercollegiate, 24 high school, and 97 recreational athletes. The male:female ratio was 2.8:1 among cam lesions and 1:1 among pincer lesions. The median preoperative score was 72 with a postoperative score of 96 and the median improvement was 20.5 points, which was statistically significant (P < .001). Ninety-five percent of professional athletes and 85% of intercollegiate athletes were able to return to their previous level of competition. There were 5 transient neurapraxias (all resolved) and 1 minor heterotopic ossification. One athlete (0.5%) underwent conversion to total hip arthroplasty and 4 (2%) underwent repeat arthroscopy. For the group with minimum 2-year follow up, the median improvement was 21 points with a postoperative score of 96. The data substantiate successful outcomes in the arthroscopic management of femoroacetabular impingement with few complications and most athletes were able to resume activities.

Agency: Cordis | Branch: FP7 | Program: CP-FP | Phase: HEALTH.2013.0-1 | Award Amount: 7.64M | Year: 2013

Project ASPRE is a commercially led development project that aims to boost translation of the results of PREGENESYS (FP6 EU #37244) into effective applications for prenatal care. PREGENESYS has identified several biomarkers for early (11-13 weeks gestation) and effective identification of pregnancies at high risk of developing pre-eclampsia (PE). This disorder affects 2-8% of pregnant women and is a major cause of short- and long-term maternal and perinatal morbidity and mortality. Studies under PREGENESYS using in-vitro research methods suggested that aspirin is the most promising agent for preventing PE. Evidence from small clinical studies has indicated that prophylactic use of low-dose aspirin starting before 16 weeks gestation can potentially halve the PE prevalence and its associated complications. Objectives: Widespread clinical implementation of a strategy of screening and prevention of PE: (1) Reduce the prevalence of PE requiring delivery before 37 weeks (preterm PE) by at least 50%, (2) Demonstrate through a large multicentre screening and prevention study the acceptability, uptake and efficacy of first trimester multi-parameter screening of preterm PE and its preventative treatment with aspirin, (3) Develop affordable, automated and reliable methods for high throughput measurement of biomarkers and commercial platforms for PE risk assessment software, (4) Develop management protocols for high risk and low risk pregnancies for PE, (5) Improve education and training of healthcare professionals involved in pregnancy care, (6) Conduct the dissemination and training required to drive clinical acceptance and adoption of multi-parameter PE screening and aspirin treatment. Expected results and impact: Generating a market demand for SME-based newly developed products for PE screening and prevention, including machines, kits and software, thereby transforming research success into economic growth for SMEs and upholding European leadership in perinatal care.

Foundation Medicine and UCL Business PLC | Date: 2016-07-01

Methods of treating a head and neck cancer are disclosed.

Foundation Medicine | Date: 2016-02-17

Novel RET fusion molecules and uses are disclosed. In one embodiment, a KIF5B-RET fusion includes an in-frame fusion of an exon of KIF5B (e.g., one or more exons encoding a kinesin motor domain or a fragment thereof) and an exon of RET (e.g., one or more exons encoding a RET tyrosine kinase domain or a fragment thereof). For example, the KIF5B-RET fusion can include an in-frame fusion of at least exon 15 of KIF5B or a fragment thereof (e.g., exons 1-15 of KIF5B or a fragment thereof) with at least exon 12 of RET or a fragment thereof (e.g., exons 12-20 of RET or a fragment thereof).

Foundation Medicine | Date: 2016-02-08

Novel mutant ESR1 molecules and uses are disclosed.

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