Associated Papers
Synonymous and non-synonymous variants at splice junctions can disrupt splicing and are frequently linked to disease associated loss of function genes.
Srinivasan S et al.
Bmc Genomics, 2025
A prospective, multicenter, comprehensive genomic profile signature study in patients with EGFR-mutant advanced non-small cell lung cancer at the first-line treatment failure of osimertinib.
Shi Y et al.
Signal Transduction and Targeted Therapy, 2025
Comprehensive Genomic Profiling of Small-Cell Lung Cancer Reveals Frequent Potentially Targetable Alterations.
Schmalz D et al.
International Journal of Molecular Sciences, 2025
PIK3CB Inhibitor GSK2636771 in Cancers With PTEN Mutation/Deletion or Loss of PTEN Protein Expression: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocols N and P.
Janku F et al.
Jco Precision Oncology, 2025
SPiP: Splicing Prediction Pipeline, a machine learning tool for massive detection of exonic and intronic variant effects on mRNA splicing.
Leman R et al.
Human Mutation, 2022
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
Tracking the evolution of untreated high-intermediate/high-risk diffuse large B-cell lymphoma by circulating tumour DNA.
Zhang S et al.
British Journal of Haematology, 2022
Phase II Study of Taselisib in PIK3CA-Mutated Solid Tumors Other Than Breast and Squamous Lung Cancer: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol I.
Krop IE et al.
Jco Precision Oncology, 2022
Analysis of trio test in neurodevelopmental disorders.
Kim SH et al.
Frontiers in Pediatrics, 2022
Comparison of in silico strategies to prioritize rare genomic variants impacting RNA splicing for the diagnosis of genomic disorders.
Rowlands C et al.
Scientific Reports, 2021
Distinguishing between PTEN clinical phenotypes through mutation analysis.
Portelli S et al.
Computational and Structural Biotechnology Journal, 2021
Clinical advantage of targeted sequencing for unbiased tumor mutational burden estimation in samples with low tumor purity.
Hong TH et al.
Journal for Immunotherapy of Cancer, 2020
Genomic Database Analysis of Uterine Leiomyosarcoma Mutational Profile.
Astolfi A et al.
Cancers, 2020
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance.
Wai HA et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
Analyzing aggregation propensities of clinically relevant PTEN mutants: a new culprit in pathogenesis of cancer and other PTENopathies.
Palumbo E et al.
Journal of Biomolecular Structure & Dynamics, 2020
PTEN in Hereditary and Sporadic Cancer.
Ngeow J et al.
Cold Spring Harbor Perspectives in Medicine, 2020
PTEN-opathies: from biological insights to evidence-based precision medicine.
Yehia L et al.
The Journal of Clinical Investigation, 2019
Multiplex assessment of protein variant abundance by massively parallel sequencing.
Matreyek KA et al.
Nature Genetics, 2018
Analytic validation and real-time clinical application of an amplicon-based targeted gene panel for advanced cancer.
Wing MR et al.
Oncotarget, 2017
High prevalence of TP53 mutations is associated with poor survival and an EMT signature in gliosarcoma patients.
Cho SY et al.
Experimental & Molecular Medicine, 2017
Cowden syndrome-related mutations in PTEN associate with enhanced proteasome activity.
He X et al.
Cancer Research, 2013
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
A comprehensive functional analysis of PTEN mutations: implications in tumor- and autism-related syndromes.
Rodríguez-Escudero I et al.
Human Molecular Genetics, 2011
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011
Naturally occurring germline and tumor-associated mutations within the ATP-binding motifs of PTEN lead to oxidative damage of DNA associated with decreased nuclear p53.
He X et al.
Human Molecular Genetics, 2011
Germline and somatic cancer-associated mutations in the ATP-binding motifs of PTEN influence its subcellular localization and tumor suppressive function.
Lobo GP et al.
Human Molecular Genetics, 2009
PTEN mutations are common in sporadic microsatellite stable colorectal cancer.
Nassif NT et al.
Oncogene, 2004
Molecular Neuropathology in Practice: Clinical Profiling and Integrative Analysis of Molecular Alterations in Glioblastoma.
Nasrallah MP et al.
Academic Pathology, 0