Clinically actionable genotypes for anticancer prescribing among >1500 patients with pharmacogenomic testing
Sign Up to like & getrecommendations! Published in 2022 at "Cancer"
DOI: 10.1002/cncr.34104
Abstract: In recent years, there has been increasing evidence supporting the role of germline pharmacogenomic factors predicting toxicity for anticancer therapies. Although somatic genomic data are used frequently in oncology care planning, germline pharmacogenomic testing is… read more here.
Keywords: actionable genotypes; clinically actionable; pharmacogenomic testing; genotypes anticancer ... See more keywords
A comparison of genome cohort participants’ genetic knowledge and preferences to receive genetic results before and after a genetics workshop
Sign Up to like & getrecommendations! Published in 2018 at "Journal of Human Genetics"
DOI: 10.1038/s10038-018-0494-z
Abstract: Several biobanks have begun returning genetic results to individuals, making the development of public genetic literacy an urgent task for their effective use. No research exists regarding the effects of genetic education on biobank participants,… read more here.
Keywords: clinically actionable; genetic knowledge; information; genetics ... See more keywords
The impact of age on genetic testing decisions in amyotrophic lateral sclerosis
Sign Up to like & getrecommendations! Published in 2022 at "Brain"
DOI: 10.1093/brain/awac279
Abstract: Abstract Amyotrophic lateral sclerosis (ALS) is a heterogeneous neurodegenerative syndrome. In up to 20% of cases, a family history is observed. Although Mendelian disease gene variants are found in apparently sporadic ALS, genetic testing is… read more here.
Keywords: clinically actionable; genetic testing; test; age ... See more keywords
DeMAG predicts the effects of variants in clinically actionable genes by integrating structural and evolutionary epistatic features
Sign Up to like & getrecommendations! Published in 2022 at "Nature Communications"
DOI: 10.1101/2022.06.15.496230
Abstract: Interpretation of rare genetic variants remains challenging. Here, the authors develop a supervised variant effect predictor for use in clinically actionable genes which incorporates evolutionary and structural relationships between residues and has balanced specificity and… read more here.
Keywords: demag predicts; clinically actionable; predicts effects; disease genes ... See more keywords
Abstract 5356: Validation of a clinically actionable cancer core gene test for solid tumors facilitating targeted molecular therapy and immunotherapy
Sign Up to like & getrecommendations! Published in 2017 at "Cancer Research"
DOI: 10.1158/1538-7445.am2017-5356
Abstract: This study included formalin-fixed, paraffin-embedded (FFPE) tumor samples and whole blood samples from lung, colorectal, melanoma, and breast cancer tumors. Four major types of mutations were assessed: single nucleotide variations (SNVs), insertion/deletions (INDELs),… read more here.
Keywords: clinically actionable; abstract 5356; 5356 validation; cancer ... See more keywords
Mechanism of ERBB2 gene overexpression by the formation of super-enhancer with genomic structural abnormalities in lung adenocarcinoma without clinically actionable genetic alterations
Sign Up to like & getrecommendations! Published in 2024 at "Molecular Cancer"
DOI: 10.1186/s12943-024-02035-6
Abstract: In an extensive genomic analysis of lung adenocarcinomas (LUADs), driver mutations have been recognized as potential targets for molecular therapy. However, there remain cases where target genes are not identified. Super-enhancers and structural variants are… read more here.
Keywords: super enhancer; structural abnormalities; clinically actionable; genetic alterations ... See more keywords
Clinical utility of germline genetic testing in diverse cancer types.
Sign Up to like & getrecommendations! Published in 2025 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2025.43.16_suppl.10590
Abstract: 10590 Background: Germline genetic testing (GGT) is often recommended for cancer patients with an estimated ≥10% risk of carrying a clinically actionable pathogenic germline variant (PGV). Clinical utility of GGT is understudied for many cancer… read more here.
Keywords: cancer; clinically actionable; risk; clinical utility ... See more keywords
Multigene Panel Testing in a Large Cohort of Adults With Epilepsy
Sign Up to like & getrecommendations! Published in 2021 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000000650
Abstract: Background and Objectives Although genetic testing among children with epilepsy has demonstrated clinical utility and become a part of routine testing, studies in adults are limited. This study reports the diagnostic yield of genetic testing… read more here.
Keywords: adults epilepsy; clinically actionable; genetic testing; diagnostic yield ... See more keywords
Comprehensive Analysis of Genomic Alterations in Hepatoid Adenocarcinoma of the Stomach and Identification of Clinically Actionable Alterations
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DOI: 10.3390/cancers14163849
Abstract: Simple Summary Hepatoid adenocarcinoma of the stomach (HAS) is a subset of gastric cancer (GC) histologically characterized by hepatocellular carcinoma-like foci with or without alpha-fetoprotein secretion, which is easily misdiagnosed. Genomic alterations and potential targets… read more here.
Keywords: clinically actionable; adenocarcinoma stomach; genomic alterations; hepatoid adenocarcinoma ... See more keywords
Understanding the Patient Experience of Receiving Clinically Actionable Genetic Results from the MyCode Community Health Initiative, a Population-Based Genomic Screening Initiative
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Personalized Medicine"
DOI: 10.3390/jpm12091511
Abstract: Understanding unselected individuals’ experiences receiving genetic results through population genomic screening is critical to advancing clinical utility and improving population health. We conducted qualitative interviews with individuals who received clinically actionable genetic results via the… read more here.
Keywords: clinically actionable; receiving clinically; genetic results; genomic screening ... See more keywords