[HTML][HTML] Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

AM Bournazos, LG Riley, S Bommireddipalli, L Ades… - Genetics in …, 2022 - Elsevier
… lower––suggestive either of NMD degradation … exon 1 and upstream of exon 2. Both PRPH2
and NF1 have the start AUG encoded by exon 1; when transcription does not initiate at exon

[HTML][HTML] Prognostic and predictive role of gene mutations in chronic lymphocytic leukemia: results from the pivotal phase III study COMPLEMENT1

E Tausch, P Beck, RF Schlenk, BMC Jebaraj… - …, 2020 - ncbi.nlm.nih.gov
… the strongest relation to clinical outcome. Their assessment … affected exons 14, 15, 16 and
18 in SF3B1 and exon 34 in … not add significant prognostic value either in the 11q deleted …

[PDF][PDF] Poziotinib for EGFR exon 20-mutant NSCLC: Clinical efficacy, resistance mechanisms, and impact of insertion location on drug sensitivity

YY Elamin, JP Robichaux, BW Carter, M Altan, H Tran… - Cancer Cell, 2022 - cell.com
… Last, 94% of patients (n = 47) had an EGFR exon 20 insertion mutation, and three patients
had either individual or compound point mutations in exon 20. A list of patients’ mutations is …

[HTML][HTML] High dose osimertinib in patients with advanced stage EGFR exon 20 mutation-positive NSCLC: Results from the phase 2 multicenter POSITION20 trial

F Zwierenga, B van Veggel, LEL Hendriks… - Lung Cancer, 2022 - Elsevier
… patient to target the EGFRex20 + tumor effectively, and achieve clinical benefit. Osimertinib
cannot be routinely recommended at either 80 or 160 mg daily for patients with EGFRex20 + …

Correlation of KRAS G12C mutation and high PD-L1 expression with clinical outcome in NSCLC patients treated with anti-PD1 immunotherapy

M Cefalì, S Epistolio, G Ramelli, D Mangan… - Journal of Clinical …, 2022 - mdpi.com
… This could either be a consequence of a … outcomes of PD-L1 blockade were worse in NSCLC
patients harboring mutations in exon 19 of EGFR, but not with the L858R variant in exon 21…

Clinical outcome of leiomyosarcomas with somatic alteration in homologous recombination pathway genes

E Rosenbaum, P Jonsson, K Seier, LX Qin… - JCO precision …, 2020 - ascopubs.org
… have poor clinical outcomes, particularly those with non-BRCA gene alterations. HRD
score calculated from a targeted exome panel did not discern disparate clinical outcomes. …

[HTML][HTML] Tepotinib in Non–Small-Cell Lung Cancer with MET Exon 14 Skipping Mutations

PK Paik, E Felip, R Veillon, H Sakai… - … England Journal of …, 2020 - Mass Medical Soc
… of exon 14 in MET can result from point mutations, insertions or deletions, or large-scale
whole-exon … splicing sites at the acceptor or donor site flanking MET exon 14. As a result of MET …

Effect of different corticosteroid dosing regimens on clinical outcomes in boys with Duchenne muscular dystrophy: a randomized clinical trial

M Guglieri, K Bushby, MP McDermott, KA Hart, R Tawil… - Jama, 2022 - jamanetwork.com
… 3 components of the primary outcome were combined using … on the multivariate outcome
being rejected for either large … years for DMD, 13 including exon skipping and read-through …

[HTML][HTML] Alternative RNA splicing defects in pediatric cancers: new insights in tumorigenesis and potential therapeutic vulnerabilities

AS Venkataramany, KM Schieffer, K Lee, CE Cottrell… - Annals of …, 2022 - Elsevier
… Published dysregulated splicing events can be categorized as exon inclusion, exon exclusion,
splicing factor up-regulation, or splice site alterations. We observe these phenomena in …

Clinical Characteristics of POC1B-Associated Retinopathy and Assignment of Pathogenicity to Novel Deep Intronic and Non-Canonical Splice Site Variants

N Weisschuh, P Mazzola, M Bertrand… - International Journal of …, 2021 - mdpi.com
… 327T>A allele with a pseudoexon of 28 bp spliced between exon 9 and exon 10 and
transcripts expressed by the c.810+1G>T allele lacking either exon 7 or both exon 6 and 7. In …