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Hereditary Breast Cancer: Comprehensive Risk Assessment and Prevention Strategies.
Genes (Basel)
January 2025
Division of Cancer Prevention and Genetics, IEO European Institute of Oncology IRCCS, 20141 Milan, Italy.
Women carrying pathogenic/likely pathogenic (P/LP) variants in moderate- or high-penetrance genes have an increased risk of developing breast cancer. However, most P/LP variants associated with breast cancer risk show incomplete penetrance. Age, gender, family history, polygenic risk, lifestyle, reproductive, hormonal, and environmental factors can affect the expressivity and penetrance of the disease.
View Article and Find Full Text PDFExploring the Role of Communication Asset Mapping (CAM) as a Strategy to Promote Hereditary Cancer Risk Assessment Information Within African American Communities.
Int J Environ Res Public Health
January 2025
Department of Behavioral Science and Health Equity, College for Public Health and Social Justice, Saint Louis University, Saint Louis, MO 63103, USA.
: African Americans (AAs) carry the largest burden for almost every type of cancer in the US and are also more likely to die from cancer. Approximately 10% of cancers can be explained by a hereditary factor and detected earlier. Many AAs, however, have inequitable access to hereditary cancer risk assessment (HCRA) tools and information, further exacerbating disparities in cancer rates.
View Article and Find Full Text PDFClinical Phenotype and Prognosis of Asymptomatic Patients With Transthyretin Cardiac Amyloid Infiltration.
JAMA Cardiol
January 2025
National Amyloidosis Centre, Division of Medicine, University College London, Royal Free Hospital, London, United Kingdom.
Importance: Patients with transthyretin (ATTR) cardiac amyloid infiltration are increasingly diagnosed at earlier disease stages with no heart failure (HF) symptoms and a wide range of cardiac amyloid infiltration.
Objective: To characterize the clinical phenotype and natural history of asymptomatic patients with ATTR cardiac amyloid infiltration.
Design, Setting, And Participants: This cohort study analyzed data of all patients at 12 international centers for amyloidosis from January 1, 2008, through December 31, 2023.
Indirect treatment comparison of lanadelumab and a C1-esterase inhibitor in pediatric patients with hereditary angioedema.
J Comp Eff Res
February 2025
ICON plc, Insights, Evidence & Value - Health Economics & Epidemiology, Langen, Germany.
To compare the efficacy and safety of lanadelumab versus other approved long-term prophylaxis (LTP) treatments in patients with pediatric hereditary angioedema (HAE) aged <12 years. A systematic literature review was conducted to identify studies of LTP in patients with HAE aged <12 years. Two studies met the inclusion criteria in an indirect treatment comparison of efficacy and safety data in pediatric HAE patients.
View Article and Find Full Text PDFExperience and role of Italian nurses working in genetic clinics: a descriptive phenomenological qualitative study.
BMC Nurs
January 2025
Medical Genetics Unit, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy.
Background: In several countries, the role of the genetic nurse has developed over decades, becoming well-recognized and integrated into healthcare systems. In contrast, in Italy, this role is still emerging, with no formal legal recognition and limited awareness among healthcare professionals and hospital administrators. Given this context, it is crucial to assess how the role and activities of nurses in genetic clinics in Italy are perceived.
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