Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10308055 | PMC |
| http://dx.doi.org/10.1016/j.jaccao.2023.02.003 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Genome Med
January 2025
Hereditary Cancer Group, Oncobell Program, Institut d'Investigació Biomèdica de Bellvitge (IDIBELL), Av. Gran Via 199-203, L'Hospitalet del Llobregat, 08908, Spain.
Background: Germline heterozygous pathogenic variants (PVs) in TP53 cause Li-Fraumeni syndrome (LFS), a condition associated with increased risk of multiple tumor types. As the associated cancer risks were refined over time, clinical criteria also evolved to optimize diagnostic yield. The implementation of multi-gene panel germline testing in different clinical settings has led to the identification of TP53 PV carriers outside the classic LFS-associated cancer phenotypes, leading to a broader cancer phenotypic redefinition and to the renaming of the condition as "heritable TP53-related cancer syndrome" (hTP53rc).
View Article and Find Full Text PDFA study to identify individuals at risk to be affected by late-onset Pompe disease who had previously been given a non-specific or tentative diagnosis for their muscle weakness (Pompe PURSUE).
Orphanet J Rare Dis
January 2025
Department of Human Genetics, Emory University, Atlanta, GA, USA.
Background: Late-onset Pompe disease (LOPD) is an autosomal recessive lysosomal storage disorder that results in severe progressive proximal muscle weakness. Over time, reductions in muscle strength result in respiratory failure and a loss of ambulation. Delayed diagnosis of LOPD deprives patients of treatments that can enhance quality of life and potentially slow disease progression.
View Article and Find Full Text PDFThe impact of metabolic syndrome on hepatocellular carcinoma: a mendelian randomization study.
Sci Rep
January 2025
Medical Innovation Center, The First Affiliated Hospital, Jiangxi Medical College, Nanchang University, No. 17, Yongwai Main Street, Nanchang, 330006, Jiangxi, China.
Traditional epidemiological studies are susceptible to confounding factors. To clarify the impact of metabolic syndrome and its diagnostic components on hepatocellular carcinoma, we conducted a preliminary mendelian randomization analysis with metabolic syndrome and its diagnostic components as exposures and hepatocellular carcinoma as the outcome. Another set of genetic data related to hepatocellular carcinoma was used as a validation cohort, repeating the mendelian randomization analysis and combining the two groups for a meta-analysis.
View Article and Find Full Text PDFNovel and recurrent genetic variants associated with male and female infertility.
J Appl Genet
January 2025
Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.
Recently, the knowledge of the genetic basis of fertility disorders has expanded enormously, mainly thanks to the use of next-generation sequencing (NGS). However, the genetic cause of infertility, in the majority of patients, is still undefined. The aim was to identify novel and recurrent pathogenic/likely pathogenic variants in patients with isolated infertility or puberty delay using a targeted NGS technique.
View Article and Find Full Text PDFGenetic analyses identify circulating genes related to brain structures associated with Parkinson's disease.
NPJ Parkinsons Dis
January 2025
Shandong Technology Innovation Center of Molecular Targeting and Intelligent Diagnosis and Treatment, Binzhou Medical University, Yantai, China.
Magnetic resonance imaging and circulating molecular testing are potential methods for diagnosing and treating Parkinson's disease (PD). However, their relationships remain insufficiently studied. Using genome-wide association summary statistics, we found in the general population a genetic negative correlation between white matter tract mean diffusivity and PD (-0.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!