Associated Papers
Characterization of the mutational status of glioblastoma and high-grade astrocytomas in a Latin American cohort.
Fernández-Gajardo R et al.
Scientific Reports, 2025
Corrigendum to "POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases": [Modern Pathology 38 (2025) 100676].
Hammer PM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
POLE-Mutated Uterine Carcinosarcomas: A Clinicopathologic and Molecular Study of 11 Cases.
Hammer PM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2025
Scalable approaches for generating, validating and incorporating data from high-throughput functional assays to improve clinical variant classification.
Padigepati SR et al.
Human Genetics, 2024
Exploring Co-occurring POLE Exonuclease and Non-exonuclease Domain Mutations and Their Impact on Tumor Mutagenicity.
Shah SM et al.
Cancer Research Communications, 2024
Source, co-occurrence, and prognostic value of PTEN mutations or loss in colorectal cancer.
Serebriiskii IG et al.
Npj Genomic Medicine, 2023
Circulating tumor DNA landscape and prognostic impact of acquired resistance to targeted therapies in cancer patients: a national center for precision medicine (PRISM) study.
Bayle A et al.
Molecular Cancer, 2023
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Assessment of aggressive bladder cancer mutations in plasma cell-free DNA.
Carrasco R et al.
Frontiers in Oncology, 2023
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.
Pejaver V et al.
American Journal of Human Genetics, 2022
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 2022
Comprehensive characterization of PTEN mutational profile in a series of 34,129 colorectal cancers.
Serebriiskii IG et al.
Nature Communications, 2022
LYRUS: a machine learning model for predicting the pathogenicity of missense variants.
Lai J et al.
Bioinformatics Advances, 2022
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
A Genome-Wide Profiling of Glioma Patients with an IDH1 Mutation Using the Catalogue of Somatic Mutations in Cancer Database.
Pappula AL et al.
Cancers, 2021
Identification of the Prognostic Signatures of Glioma With Different PTEN Status.
Zhang P et al.
Frontiers in Oncology, 2021
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Miller EM et al.
Bmc Medical Genomics, 2020
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
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
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy DM et al.
Genome Medicine, 2019
Expression of Human PTEN-L in a Yeast Heterologous Model Unveils Specific N-Terminal Motifs Controlling PTEN-L Subcellular Localization and Function.
Fernández-Acero T et al.
Cells, 2019
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Mester JL et al.
Human Mutation, 2018
Targeting HER2 in colorectal cancer: The landscape of amplification and short variant mutations in ERBB2 and ERBB3.
Ross JS et al.
Cancer, 2018
Molecular Heterogeneity of Ewing Sarcoma as Detected by Ion Torrent Sequencing.
Zhang N et al.
Plos One, 2016
The effect of age at exposure on the inactivating mechanisms and relative contributions of key tumor suppressor genes in radiation-induced mouse T-cell lymphomas.
Sunaoshi M et al.
Mutation Research, 2015
A functional dissection of PTEN N-terminus: implications in PTEN subcellular targeting and tumor suppressor activity.
Gil A et al.
Plos One, 2015
Genome-wide single nucleotide polymorphism arrays as a diagnostic tool in patients with synchronous endometrial and ovarian cancer.
Ikeda Y et al.
International Journal of Gynecological Cancer : Official Journal of the International Gynecological Cancer Society, 2012
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.
Papa S et al.
Biochimica Et Biophysica Acta, 2009
Progesterone receptor polymorphisms and risk of breast cancer: results from two Australian breast cancer studies.
Johnatty SE et al.
Breast Cancer Research and Treatment, 2008