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
A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients
Sign Up to like & getrecommendations! Published in 2021 at "Gastroenterology Report"
DOI: 10.1093/gastro/goab020
Abstract: Abstract Background Approximately 10% of patients with gastric cancer (GC) have a genetic predisposition toward the disease. However, there is scant knowledge regarding germline mutations in predisposing genes in the Chinese GC population. This study… read more here.
Keywords: gastric cancer; study; pathogenic likely; chinese patients ... 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
Association of Pathogenic/Likely Pathogenic Genetic Variants for Cardiomyopathies With Clinical Outcomes: A Multiancestry Analysis in the All of Us Research Program.
Sign Up to like & getrecommendations! Published in 2025 at "Circulation. Genomic and precision medicine"
DOI: 10.1161/circgen.124.005113
Abstract: BACKGROUND This study aimed to evaluate the prevalence of pathogenic/likely pathogenic cardiomyopathy variant carriers in a multiancestry US population and examine the risk of adverse clinical outcomes. METHODS This retrospective cohort study included multiancestry US… read more here.
Keywords: variant carriers; likely pathogenic; pathogenic likely; clinical outcomes ... 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
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls
Sign Up to like & getrecommendations! Published in 2018 at "Genome Medicine"
DOI: 10.1186/s13073-018-0607-5
Abstract: BackgroundPrior research has established that the prevalence of pathogenic/likely pathogenic (P/LP) variants across all of the American College of Medical Genetics (ACMG) Secondary Findings (SF) genes is approximately 0.8–5%. We investigated the prevalence of P/LP… read more here.
Keywords: cancer genes; prevalence; pathogenic likely; cohort ... 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
Predictive Accuracy of a Clinical Model for Carriage of Pathogenic/Likely Pathogenic Variants in Patients with Dementia and a Positive Family History at PUMCH
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DOI: 10.3390/biomedicines13051235
Abstract: Background and Objectives: Identifying carriers of Pathogenic/Likely Pathogenic Variants in patients with dementia is crucial for risk stratification, particularly in individuals with a family history. This study developed and validated a clinical prediction model using… read more here.
Keywords: family; history; likely pathogenic; pathogenic likely ... See more keywords
Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population
Sign Up to like & getrecommendations! Published in 2022 at "Diagnostics"
DOI: 10.3390/diagnostics12092241
Abstract: Germline predisposition plays an important role in breast cancer. Different ethnic populations need respective studies on cancer risks pertinent to germline variants. We aimed to discover the pathogenic and likely pathogenic variants (P/LP-Vs) of germline… read more here.
Keywords: pathogenic likely; pathogenic variants; breast cancer; likely pathogenic ... See more keywords
Prevalence of Pathogenic and Likely Pathogenic Variants Associated with Cardiovascular Diseases in Russian Adults and Long-Living Individuals
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DOI: 10.3390/genes16101228
Abstract: Background: Cardiovascular diseases remain a leading cause of death worldwide, yet the prevalence of pathogenic and likely pathogenic genetic variants associated with them is still underassessed in some populations. This study aimed to assess the… read more here.
Keywords: likely pathogenic; pathogenic likely; prevalence pathogenic; variants associated ... See more keywords