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Introduction: Discussion of cancer genetic testing with health-care providers (HCPs) is necessary to undergo testing to inform cancer risk assessment and prevention. Given the rapid evolution in genetic testing practice in oncology, we describe the current landscape of population-level cancer genetic testing behaviors.
Methods: A questionnaire including items regarding discussion of cancer genetic testing with HCPs was administered to a nonprobability sample (N = 2,029) of the Texas population.
Results: Overall, 11% of respondents discussed cancer genetic testing with HCPs. In multivariable analysis, discussion was significantly related to having a personal history of breast/ovarian/colon cancer (OR = 11.57, 95% CI = 5.34-25.03), personal history of other cancer (OR = 3.18, 95% CI = 1.69-5.97), and health information-seeking behaviors (OR = 1.73, 95% CI = 1.12-2.66). Surprisingly, respondents who believed that inherited predispositions in addition to other modifiable risk factors cause cancer were less likely to discuss genetic testing compared to those who did not believe that inherited cancer predispositions cause cancer (OR = 0.54, 95% CI = 0.36-0.79).
Discussion: The high discussion rate may be attributed to increased public awareness of genetic testing and adoption of more inclusive clinical genetic testing guidelines. The findings suggest that efforts to increase public awareness of the utility of genetic testing on personalized cancer risk assessment and cancer prevention are needed.
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http://dx.doi.org/10.1159/000515465 | DOI Listing |
Turk J Pediatr
September 2025
Division of Pediatric Rheumatology, Department of Pediatrics, Cerrahpaşa Faculty of Medicine, İstanbul University-Cerrahpaşa, İstanbul, Türkiye.
Background: We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF).
Methods: This retrospective study included patients under 18 years of age, diagnosed with MKD and followed for at least six months at the pediatric rheumatology department of Istanbul University - Cerrahpaşa Medical Faculty between 2016 and 2024.
Results: Of 33 patients, 51.
Introduction: Genetic analysis is essential for diagnosing, treating, and predicting complications in neonatal diabetes mellitus (NDM) but is unavailable in some regions. Sulfonylureas are effective for NDM caused by KCNJ11 or ABCC8 mutations, which are among the most common genetic causes, therefore they are often given before genetic testing. Unfortunately, in certain ethnicities, this mutation rarely occurs.
View Article and Find Full Text PDFHorm Res Paediatr
September 2025
Background: Neonatal diabetes mellitus (NDM) is a rare monogenic disorder, typically diagnosed within the first six months of life. While NDM is well-recognized globally, data from India regarding its clinical characteristics, treatment strategies, and long-term outcomes are scarce.
Objectives: To describe the molecular characterization, clinical phenotype and follow-up of children with NDM.
Sci Prog
September 2025
Xiamen Eye Center and Eye Institute of Xiamen University, School of Medicine, Xiamen, China.
BackgroundGlaucoma is recognized as the second-leading cause of complete blindness in developed countries and a significant contributor to irreversible vision loss worldwide. Understanding the potential genetic links between neurodegenerative diseases, such as Parkinson's disease, and glaucoma is crucial for developing preventive strategies.MethodsThis study utilized data from Genome-Wide Association Studies databases, focusing on European populations without gender restrictions.
View Article and Find Full Text PDFCNS Drugs
September 2025
Global Health Neurology Lab, Sydney, NSW, 2150, Australia.
Acute ischemic stroke (AIS) remains a leading cause of mortality and long-term disability globally, with survivors at high risk of recurrent stroke, cardiovascular events, and post-stroke dementia. Statins, while widely used for their lipid-lowering effects, also possess pleiotropic properties, including anti-inflammatory, endothelial-stabilizing, and neuroprotective actions, which may offer added benefit in AIS management. This article synthesizes emerging evidence on statins' dual mechanisms of action and evaluates their role in reducing recurrence, improving survival, and mitigating cognitive decline.
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