A multicenter study of clinical impact of variant of uncertain significance reclassification in breast, ovarian and colorectal cancer susceptibility genes
Sign Up to like & getrecommendations! Published in 2022 at "Cancer Medicine"
DOI: 10.1002/cam4.5202
Abstract: Clinical interpretation of genetic test results is complicated by variants of uncertain significance (VUS) that have an unknown impact on health but can be clarified through reclassification. There is little empirical evidence regarding VUS reclassification… read more here.
Keywords: reclassification; impact; uncertain significance; multicenter study ... See more keywords
Characterization of variant reclassification and patient re‐contact in a cancer genetics clinic
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1600
Abstract: Expanded genetic testing guidelines for hereditary cancers, increased utilization of large multigene panels, and improved methods for reclassifying variants have led to a greater need to understand how variant reclassification and patient re‐contact are managed.… read more here.
Keywords: patient contact; variant reclassification; reclassification; genetics ... See more keywords
How should we address the inevitable harms from non‐negligent variant reclassification in predictive genetic testing?
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Genetic Counseling"
DOI: 10.1002/jgc4.1638
Abstract: The process of interpreting genetic variants, in which experts use all available evidence to determine whether an identified variant is associated with a current or future disease, is both scientific and nevertheless subjective. In this… read more here.
Keywords: inevitable harms; reclassification; harms non; address inevitable ... See more keywords
Gradual increase in sweat chloride concentration is associated with a higher risk of CRMS/CFSPID to CF reclassification
Sign Up to like & getrecommendations! Published in 2022 at "Pediatric Pulmonology"
DOI: 10.1002/ppul.26296
Abstract: Universal implementation of cystic fibrosis (CF) newborn screening (NBS) has led to the diagnostic dilemma of infants with CF screen‐positive, inconclusive diagnosis (CFSPID), with limited guidance regarding prognosis and standardized care. Rates of reclassification from… read more here.
Keywords: reclassification; sweat chloride; gradual increase; increase sweat ... See more keywords
Influence of image reconstruction parameters on cardiovascular risk reclassification by Computed Tomography Coronary Artery Calcium Score.
Sign Up to like & getrecommendations! Published in 2018 at "European journal of radiology"
DOI: 10.1016/j.ejrad.2018.01.005
Abstract: OBJECTIVE To investigate the influence of different CT reconstruction parameters on coronary artery calcium scoring (CACS) values and reclassification of predicted cardiovascular (CV) risk. METHODS CACS was evaluated in 113 patients undergoing ECG-gated 64-slice CT.… read more here.
Keywords: thickness increment; risk; reclassification; reconstruction parameters ... See more keywords
Refined Analysis of Prostate-specific Antigen Kinetics to Predict Prostate Cancer Active Surveillance Outcomes.
Sign Up to like & getrecommendations! Published in 2018 at "European urology"
DOI: 10.1016/j.eururo.2018.01.017
Abstract: BACKGROUND For men on active surveillance for prostate cancer, utility of prostate-specific antigen (PSA) kinetics (PSAk) in predicting pathologic reclassification remains controversial. OBJECTIVE To develop prediction methods for utilizing serial PSA and evaluate frequency of… read more here.
Keywords: prostate; active surveillance; psa; reclassification ... See more keywords
Taxonomic insights into the phylogeny of Bacillus badius and proposal for its reclassification to the genus Pseudobacillus as Pseudobacillus badius comb. nov. and reclassification of Bacillus wudalianchiensis Liu et al., 2017 as Pseudobacillus wudalianchiensis comb. nov.
Sign Up to like & getrecommendations! Published in 2019 at "Systematic and applied microbiology"
DOI: 10.1016/j.syapm.2019.03.003
Abstract: The species Bacillus badius is one of the oldest members of the genus Bacillus isolated from faeces of children and was classified based on its ability to form endospores [8]. In 16S rRNA gene sequence… read more here.
Keywords: comb nov; wudalianchiensis; badius; pseudobacillus ... See more keywords
Perceptions of genetic variant reclassification in patients with inherited cardiac disease
Sign Up to like & getrecommendations! Published in 2019 at "European Journal of Human Genetics"
DOI: 10.1038/s41431-019-0377-6
Abstract: Interpretation of sequence variants is an ongoing challenge and new approaches aim to increase stringency. The reclassification of variants has the potential to alter medical management and elicit psychosocial consequences for patients. The perspective of… read more here.
Keywords: reclassification; cardiac disease; variant reclassification; inherited cardiac ... See more keywords
Genetic associations of T cell cancer immune response with tumor aggressiveness in localized prostate cancer patients and disease reclassification in an active surveillance cohort
Sign Up to like & getrecommendations! Published in 2019 at "OncoImmunology"
DOI: 10.1080/2162402x.2018.1483303
Abstract: ABSTRACT Determining prostate cancer (PCa) aggressiveness and reclassification are critical events during the treatment of localized disease and for patients undergoing active surveillance (AS). Since T cells play major roles in cancer surveillance and elimination,… read more here.
Keywords: cell cancer; immune response; surveillance; cancer ... See more keywords
Genetic Variants in Epithelial Mesenchymal Transition Genes as Predictors of Clinical Outcomes in Localized Prostate Cancer.
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DOI: 10.1093/carcin/bgaa026
Abstract: BACKGROUND Epithelial mesenchymal transition (EMT) plays a pivotal role in the progression of prostate cancer (PCa). However, little is known about genetic variants in the EMT pathway as predictors of aggressiveness, biochemical recurrence (BCR), and… read more here.
Keywords: bcr; mesenchymal transition; reclassification; genetic variants ... See more keywords
Quantified coronary plaque volume provides superior risk stratification up to 10 years
Sign Up to like & getrecommendations! Published in 2020 at "European Heart Journal"
DOI: 10.1093/ehjci/ehaa946.0179
Abstract: Automated plaque quantification derived from coronary CT angiogragphy datasets provides exact and reliable assessment of coronary atherosclerosis burden. To investigate the potential for category based reclassification of patients based upon quantified coronary plaque volume in… read more here.
Keywords: quantified coronary; stratification; risk; reclassification ... See more keywords