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Filter by:HER2-low Breast cancer (BC) has emerged as a new subtype of BC with distinct clinical, pathological, and prognostic features. Little is known about the prevalence of the HER2-low subtype in HER2-negative patients, and previous reports showed variations in the criteria used to define the HER2-low subtype. Besides, data on the clinical features and prognosis of HER2-low patients are limited, and it is still unclear whether HER2-low BC has a prognostic value. Identifying the prevalence and clinical features of HER2-low BC can help establish a more accurate and reproducible definition of HER2-low BC. In the Gulf Cooperation Council (GCC) region, BC is the most common malignancy in women and still poses a significant burden on healthcare resource utilization, moreover, there is only one record for reimbursed HER2 IHC status, categorized as HER2-positive and HER2-negative. It is important to understand the prevalence, clinical features, and outcomes of HER2-low in BC patients from the GCC In this retrospective, non-interventional, multicenter study, the aim to describe the prevalence of HER2-low BC among the current HER2-negative BC population using rescored HER2 IHC samples. The local treatment patterns and the outcomes will be analyzed using the information abstracted from the corresponding medical chart review. The study will cover the GCC region countries (United Arab Emirates [UAE], Saudi Arabia, Qatar, Kuwait, and Oman)
Lung cancer is one of the leading causes of cancer-related deaths in China. Despite advances in systemic therapy and improvement nonsurvival rates for patients with advanced lung cancer, morbidity and mortality remain high. Recently, many studies reported that patients with positive driving genes such as EGFR(epidermal growth factor receptor,EGFR), ALK(anaplastic lymphoma kinase,ALK), ROS1(c-ros oncogene 1 receptor,ROS1), BRAF (V-raf murine sarcoma viral oncogene homolog B1, BRAF)and so on have clearly targeted drugs, which bring survival benefits to patients. However, about half of patients still lack a clear driving gene target, which may have improved survival due to higher response rates to radiation therapy and other chemotherapy medications. Development of noninvasive imaging biomarkers such as CT (computed tomography,CT)and MRI (magnetic resonance imaging,MRI)may not only evaluate the response to therapy ,but also could predict the efficacy of drug therapy and whether the driving gene is positive or not, through analysing the relationship between clinical related data and imaging features to find the imaging characteristics for making clinical decisions, and, consequently, contribute to an improved prognosis.
This project aims to test the impact of melatonin and MTNR1B variation on regulation glucose regulation in a highly controlled in-laboratory setting and ex vivo in pancreatic islets.
This project aims to test the impact of melatonin and MTNR1B variation on regulation glucose regulation in a highly controlled in-laboratory setting and ex vivo in pancreatic islets.
Background: Chordoma is a rare, slow growing, often fatal bone cancer derived from remnants of the embryonic notochord. It occurs mostly in the axial skeleton (skull base, vertebrae, sacrum and coccyx), is more frequent in males than females, and has a median age at diagnosis of 58.5 years, with a wide age range. This typically sporadic tumor is often advanced at presentation, and mortality is high due to local recurrence or distant metastases. The usual treatment is surgery, followed by adjuvant radiation therapy. Chemotherapy has not had a significant treatment role. Reports of a small number of families worldwide with two or more relatives with chordoma support a role for susceptibility genes in chordoma etiology. Recently we determined that duplications of the T gene co-segregated with disease in four multiplex chordoma families. The T gene encodes brachyury, a tissue-specific transcription factor that is expressed in notochord cells and is essential for formation and maintenance of the notochord. Some of the other chordoma families that we studied did not have T-gene duplications; the aggregation of chordomas in these families may result from changes in other susceptibility genes or other types of mutations targeting the T gene. We are continuing gene identification studies of multiplex chordoma families at the NIH Clinical Center under protocol 78-C-0039. We also want to determine whether alterations in any identified chordoma susceptibility genes are associated with sporadic chordoma in the general population. Objectives: The major goal of this protocol is to identify sporadic chordoma patients willing to provide germline and tumor DNA for studies to determine the frequency of alterations in chordoma susceptibility genes. Our previous protocols with SEER and Massachusetts General Hospital to identify chordoma patients were limited to residents of specific geographic regions in the U.S. (2 states and 2 metropolitan areas) or to patients with pediatric skull base tumors. This protocol will enroll patients who more broadly represent the age, site and gender distributions of sporadic chordoma in the general U.S. population. Eligibility: Eligible patients are males and females in the U.S. with chordoma diagnosed at any age and at any primary site. Because we want to obtain saliva from all participants, eligibility is limited to patients who will be greater than or equal to age 6 years at the time of enrollment. Design: The study description and contacting information including an e-mail link to the study contact person will be posted on web sites of two chordoma support groups. We will mail study information to be given to patients to colleagues at major medical centers that treat chordoma. The components of the study will be carried out in subjects' homes using materials mailed to them. Up to 100 participants will: 1) complete a self-administered Personal and Family Medical History Questionnaire, 2) collect saliva using a saliva collection kit, and 3) provide permission to obtain medical/pathology records, and paraffin blocks or slides on each primary chordoma. Parents will serve as proxies for minor children. We will recontact patients who report chordoma in at least one blood relative. If we confirm the relative's chordoma diagnosis, we will invite the study subject and selected family members to participate in clinical and gene mapping studies under protocol 78-C-0039. We may also recontact study participants to tell them about any new studies on chordoma etiology. They can decide at that time whether they want to participate in them.
The specific aims for this project are to enroll up to 10,000 subjects who will have their genomes surveyed using the Navigenics™ Health Compass technology. The Navigenics Health Compass helps you understand what your genetic variants have to say about the future of your health, and gives you action steps to take control of your health today. In addition, the investigators will assess how the Navigenics Health Compass, results affect lifestyle decisions. The phenotyping information that can be analyzed with the resulting Navigenics genotype information will assist in identifying genetic variations associated with other traits and diseases. The uses of molecular markers such as cholesterol and glucose levels to assess disease risk are well established in clinical medicine today. Although these tools are useful in screening for subclinical disease, their predictive value is limited. Until recently, these molecular markers were the best risk assessment and screening tools in existence. Since the completion of the Human Genome Project, the era of personalized medicine, which exploits knowledge of the genes an individual carries that may predispose him/her to disease, has come to the forefront of research. The Navigenics Health Compass technology assesses risk for about over 20 common diseases and provides subjects with more accurate assessments of their individual predictive risk for developing these conditions than traditional biomarkers such as cholesterol and glucose levels. This may positively influence changes in lifestyle, as well as decisions to seek further medical evaluation associated with preventive strategies.