Categoría: Articulos
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Spleen scans reveal genetic clues to coronary artery disease risk
A new study led by investigators from Mass General Brigham reveals that certain features in the spleen hidden within imaging scans may signal a person’s risk of coronary artery disease (CAD), suggesting targets for prevention and treatment. The finding…
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Spleen scans reveal genetic clues to coronary artery disease risk
A new study led by investigators from Mass General Brigham reveals that certain features in the spleen hidden within imaging scans may signal a person’s risk of coronary artery disease (CAD), suggesting targets for prevention and treatment. The finding…
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Blood protein analysis could help diagnose rare diseases missed by genome sequencing
Researchers from Queen Mary University of London, the Berlin Institute of Health at Charité (BIH) and Genomics England have shown that measuring proteins in the blood can provide important additional clues about the effects of genetic variants, helping…
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Blood protein analysis could help diagnose rare diseases missed by genome sequencing
Researchers from Queen Mary University of London, the Berlin Institute of Health at Charité (BIH) and Genomics England have shown that measuring proteins in the blood can provide important additional clues about the effects of genetic variants, helping…
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Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study
BackgroundClassification of heterozygous germline PTEN variants in patients with, or suspected of having, PTEN hamartoma tumour syndrome (PHTS) remains challenging. Accurate classification is essential as these patients require lifelong cancer surveill…
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Phenotypic manifestations and variant reclassification of germline PTEN variants: a nationwide Danish study
BackgroundClassification of heterozygous germline PTEN variants in patients with, or suspected of having, PTEN hamartoma tumour syndrome (PHTS) remains challenging. Accurate classification is essential as these patients require lifelong cancer surveill…
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Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature
BackgroundDysregulation of the RAS-mitogen-activated protein kinase signalling pathway underlies RASopathies, a family of neurodevelopmental disorders associated with variable cancer predisposition. However, the prevalence and spectrum of solid tumours…
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Solid tumours in RASopathies: insights from a large monocentric cohort and systematic review of the literature
WHAT IS ALREADY KNOWN ON THIS TOPICRASopathies are a heterogeneous group of neurodevelopmental disorders caused by germline hyperactivation of the RAS-mitogen-activated protein kinase pathway and are characterised by a variable predisposition to both…
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Certain DNA signatures may reveal which prostate cancers are most likely to spread
Prostate cancer is the second most common form of cancer among men globally. Yet, we still know relatively little about why the disease develops or why some men live with it for years while it progresses aggressively in others.
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Certain DNA signatures may reveal which prostate cancers are most likely to spread
Prostate cancer is the second most common form of cancer among men globally. Yet, we still know relatively little about why the disease develops or why some men live with it for years while it progresses aggressively in others.