LAUSR

Genomic analyses of all known putative familial hypercholesterolemia mutations showcase the value and limitations of public familial hypercholesterolemia mutation databases

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0 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

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0 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

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2 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

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1 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

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0 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

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1 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

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0 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

Targeted Sequencing of Germline Breast Cancer Susceptibility Genes for Discovering Pathogenic/Likely Pathogenic Variants in the Jakarta Population

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0 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