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Pitfalls and perils from FDA-approved germ-line cancer predisposition tests.
Oncotarget
December 2024
The FDA approval on September 29, 2023, for "class III " blood tests to assess hereditary cancer risk make widely available tests that may be obtained through a Direct to Consumer (DTC) path. There is concern that germ-line predisposition tests may not be reimbursed by insurance adding financial burdens to individuals and families. It is generally agreed in the fields on oncology and genetics that germ-line testing for disease susceptibility including cancer is best performed under care of a healthcare provider with genetic counseling.
View Article and Find Full Text PDFBackground: Alzheimer's disease (AD), a complex and polygenic disease with a considerable hereditary component (60-80%), is a progressive neurodegenerative disorder characterized by concealed onset, and individuals often have significant cognitive impairment and histopathological changes in the brain before overt clinical diagnosis. However, the correlations between genetic risk for Alzheimer's disease (AD) with comprehensive brain regions at a regional scale are still not well understood. We aim to explore whether these associations vary across different age stages.
View Article and Find Full Text PDFDementia Care Practice.
Alzheimers Dement
December 2024
VA Boston Healthcare System, Jamaica Plain, MA, USA.
Background: Mixed dementia type - Alzheimer's Disease (AD), cerebral amyloid angiopathy (CAA), and vascular - is vastly recognized as a cause of dementia in older adults. Whereas CAA, primarily leptomeningeal, is a frequent complication in hereditary transthyretin cardiac amyloidosis (TTRCA), it is unusually reported in association with wild-type TTR, with or without polyneuropathy. The knowledge of mixed dementia and wild-type TTR association is even scarcer.
View Article and Find Full Text PDFLandscape of Multilocus Inherited Neoplasia Allele Syndrome in Mexican Population.
JCO Glob Oncol
January 2025
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González," Universidad Autónoma de Nuevo León, Monterrey, México.
Purpose: Hereditary cancer syndromes (HCS) explain 5%-10% of all cancer cases. Patients with more than one germline pathogenic variant (GPV) result in a clinical syndrome known as multilocus inherited neoplasia allele syndrome (MINAS). In recent years, an increasing number of MINAS cases have been reported.
View Article and Find Full Text PDFA retrospective single-center pilot study of the genetic background of the transplanted kidney.
PLoS One
January 2025
Department of Nephrology, Institute for Clinical and Experimental Medicine, Prague, Czech Republic.
Introduction: Renal cell carcinoma (RCC) is one of the most prevalent cancers in kidney transplant recipients (KTR). The hereditary background of RCC in native kidneys has been determined, implicating its clinical importance.
Materials And Methods: This retrospective single-center pilot study aimed to identify a potential genetic predisposition to RCC of the transplanted kidney and outcome in KTR who underwent single kidney transplantation between January 2000 and December 2020 and manifested RCC of the transplanted kidney.
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