Concern regarding classification of germline TP53 variants as likely pathogenic
Sign Up to like & getrecommendations! Published in 2019 at "Human Mutation"
DOI: 10.1002/humu.23750
Abstract: To the Editor, We read with some concern the recent article in Human Mutation on the frequency of potentially actionable germline variants in the TP53 gene (de Andrade et al., 2019). A prevalence estimate, including… read more here.
Keywords: classification; likely pathogenic; frequency; pathogenicity ... See more keywords
Screening of dementia genes by whole-exome sequencing in Spanish patients with early-onset dementia: likely pathogenic, uncertain significance and risk variants
Sign Up to like & getrecommendations! Published in 2020 at "Neurobiology of Aging"
DOI: 10.1016/j.neurobiolaging.2020.02.008
Abstract: Early-onset Alzheimer's disease (EOAD) and frontotemporal dementia (FTD) have a high proportion of genetically determined cases. Next-generation sequencing technologies have triggered the discovery of new mutations and genetic variants in dementia-causal genes. We performed whole-exome… read more here.
Keywords: exome sequencing; early onset; likely pathogenic; dementia ... See more keywords
Genomic analyses of all known putative familial hypercholesterolemia mutations showcase the value and limitations of public familial hypercholesterolemia mutation databases
Sign Up to like & getrecommendations! Published in 2020 at "European Heart Journal"
DOI: 10.1093/ehjci/ehaa946.2994
Abstract: Familial hypercholesterolemia (FH) is genetically very heterogeneous and genomic and locus-specific public databases describing putative FH mutations are assumed to be of limited clinical utility because of classification errors. A description of all currently known… read more here.
Keywords: pathogenic variants; likely pathogenic; classified pathogenic; pathogenic likely ... See more keywords
Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.
Sign Up to like & getrecommendations! Published in 2023 at "Laboratory medicine"
DOI: 10.1093/labmed/lmad038
Abstract: OBJECTIVE We studied the clinical and molecular features of a family with hypertrophic cardiomyopathy (HCM). BACKGROUND A very heterogeneous disease affecting the heart muscle, HCM is mostly caused by variants in the proteins of sarcomeres.… read more here.
Keywords: hypertrophic cardiomyopathy; hcm; whole exome; exome sequencing ... See more keywords
Luteinizing hormone β-subunit deficiency: report of a novel LHB likely pathogenic variant and a systematic review of the published literature.
Sign Up to like & getrecommendations! Published in 2022 at "Clinical endocrinology"
DOI: 10.1111/cen.14749
Abstract: CONTEXT Selective deficiency of β-subunit of luteinizing hormone (LHB) is a raredisease with scarce data on its characteristics. OBJECTIVES To describe a male with LHB deficiency and systematically review the literature. DESIGN AND PATIENTS Description… read more here.
Keywords: likely pathogenic; deficiency; systematic review; luteinizing hormone ... See more keywords
Novel likely pathogenic SLC20A variant in primary familial brain calcification
Sign Up to like & getrecommendations! Published in 2022 at "BMJ Case Reports"
DOI: 10.1136/bcr-2021-245909
Abstract: A woman in her 30s was referred to our neurology outpatient clinic following an incidental finding of significant bilateral and symmetric basal ganglia, thalamic, cerebellar and subcortical white matter calcification on brain CT and MRI.… read more here.
Keywords: brain calcification; calcification; brain; familial brain ... See more keywords
Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Medical Genetics"
DOI: 10.1136/jmedgenet-2022-108428
Abstract: Despite the successful identification of causative genes and genetic variants of retinitis pigmentosa (RP), many patients have not been molecularly diagnosed. Our recent study using targeted short-read sequencing showed that the proportion of carriers of… read more here.
Keywords: likely pathogenic; genetically unsolved; retinitis pigmentosa; read sequencing ... See more keywords
Abstract 6080: Comprehensive profiling of pathogenic/likely pathogenic large genomic rearrangements in pan cancer samples
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-6080
Abstract: Background: Correlations between large genomic rearrangements (LGRs) and cancer types beyond breast or ovarian cancer have not been sufficiently profiled, likely due to the highly inefficient methods of detecting these types of mutations. Methods: This… read more here.
Keywords: pathogenic likely; pan cancer; large genomic; genomic rearrangements ... See more keywords
Prevalence and Disease Expression of Pathogenic and Likely Pathogenic Variants Associated With Inherited Cardiomyopathies in the General Population
Sign Up to like & getrecommendations! Published in 2022 at "Circulation. Genomic and Precision Medicine"
DOI: 10.1161/circgen.122.003704
Abstract: Background: Pathogenic and likely pathogenic variants associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM) are recommended to be reported as secondary findings in genome sequencing studies. This provides opportunities… read more here.
Keywords: pathogenic likely; pathogenic variants; variants associated; disease ... See more keywords
Pediatric reporting of genomic results study (PROGRESS): a mixed-methods, longitudinal, observational cohort study protocol to explore disclosure of actionable adult- and pediatric-onset genomic variants to minors and their parents
Sign Up to like & getrecommendations! Published in 2020 at "BMC Pediatrics"
DOI: 10.1186/s12887-020-02070-4
Abstract: Background Exome and genome sequencing are routinely used in clinical care and research. These technologies allow for the detection of pathogenic/likely pathogenic variants in clinically actionable genes. However, fueled in part by a lack of… read more here.
Keywords: onset; adult; likely pathogenic; study ... See more keywords
Clinical characteristics and molecular genetic analysis of a cohort with idiopathic congenital hypogonadism
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2020-0590
Abstract: Abstract Objectives Hypogonadism is defined as inadequate sex hormone production due to defects in the hypothalamic-pituitary-gonadal axis. In recent years, rare single gene defects have been identified in both hypergonadotropic hypogonadism (Hh), and hypogonadotropic hypogonadism… read more here.
Keywords: hypogonadism; likely pathogenic; analysis; molecular genetic ... See more keywords