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Genetic predisposition to cancer
Over the last 28 years there has been a burgeoning development of genetic risk assessment and ‘family history’ clinics to deal with the ever-increasing demand from individuals at increased risk of cancer by virtue of their family history. Risk of inherited cancer can be divided into known syndromes, such as familial polyposis, and increased risk of ...
openaire +3 more sources
Genetic predispositions to childhood leukemia [PDF]
While the majority of leukemia cases occur in the absence of any known predisposing factor, there are germline mutations that significantly increase the risk of developing hematopoietic malignancies in childhood. In this review article, we describe a number of these mutations and their clinical features. These predispositions can be broadly classified
Stieglitz, Elliot, Loh, Mignon L
openaire +4 more sources
Genetic predisposition of cholesterol gallstone disease
Gallstone disease (GSD) is the result of the interaction between genetic and environmental factors and it is a major disease cause of surgery with high costs to health systems.
Alejandro Hernández-Nazará +4 more
doaj +1 more source
Developing synchronous bilateral Wilms tumor suggests an underlying (epi)genetic predisposition. Here, we evaluate this predisposition in 68 patients using whole exome or genome sequencing (n = 85 tumors from 61 patients with matched germline blood DNA),
Andrew J. Murphy +33 more
doaj +1 more source
Increased risk for other cancers in individuals with Ewing sarcoma and their relatives. [PDF]
BackgroundThere are few reports of the association of other cancers with Ewing sarcoma in patients and their relatives. We use a resource combining statewide genealogy and cancer reporting to provide unbiased risks.MethodsUsing a combined genealogy of 2 ...
Abbott, Diana +9 more
core +1 more source
Leveraging eQTLs to identify individual-level tissue of interest for a complex trait.
Genetic predisposition for complex traits often acts through multiple tissues at different time points during development. As a simple example, the genetic predisposition for obesity could be manifested either through inherited variants that control ...
Arunabha Majumdar +8 more
doaj +1 more source
Diabetes mellitus and ischemic heart disease. the role of ion channels [PDF]
Diabetes mellitus is one the strongest risk factors for cardiovascular disease and, in particular, for ischemic heart disease (IHD). The pathophysiology of myocardial ischemia in diabetic patients is complex and not fully understood: some diabetic ...
De Marchis, Marialaura +8 more
core +2 more sources
Exposure to common noxious agents (1), including allergens, pollutants, and micro‐nanoplastics, can cause epithelial barrier damage (2) in our body's protective linings. This may trigger an immune response to our microbiome (3). The epithelial barrier theory explains how this process can lead to chronic noncommunicable diseases (4) affecting organs ...
Can Zeyneloglu +17 more
wiley +1 more source
Genetic predisposition in nonalcoholic fatty liver disease [PDF]
Nonalcoholic fatty liver disease (NAFLD) is the most common chronic liver disease whose prevalence has reached global epidemic proportions. Although the disease is relatively benign in the early stages, when severe clinical forms, including nonalcoholic ...
Silvia Sookoian, Carlos J. Pirola
doaj +1 more source
From omics to AI—mapping the pathogenic pathways in type 2 diabetes
Integrating multi‐omics data with AI‐based modelling (unsupervised and supervised machine learning) identify optimal patient clusters, informing AI‐driven accurate risk stratification. Digital twins simulate individual trajectories in real time, guiding precision medicine by matching patients to targeted therapies.
Siobhán O'Sullivan +2 more
wiley +1 more source

