Associated Papers
Reanalysis of Exome Sequencing Data in the Indian Undiagnosed Diseases Program: Improving Diagnostic Yield and Ending Diagnostic Odyssey.
Garg N et al.
Clinical Genetics, 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
Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.
Küçükosmanoglu A et al.
Molecular Oncology, 2024
Standing in the canine precision medicine knowledge gap: Improving annotation of canine cancer genomic biomarkers through systematic comparative analysis of human cancer mutations in COSMIC.
Sakthikumar S et al.
Veterinary and Comparative Oncology, 2023
Systematic Pan-cancer Functional Inference and Validation of Hyper, Hypo and Neomorphic Mutations.
Tagore S et al.
Biorxiv : the Preprint Server for Biology, 2023
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants.
Mussa A et al.
Journal of Medical Genetics, 2023
Profiling PIK3CA variants in disorders of somatic mosaicism.
Mojarad BA et al.
Genetics in Medicine Open, 2023
Somatic mutation distribution across tumour cohorts provides a signal for positive selection in cancer.
Boström M et al.
Nature Communications, 2022
Molecular Basis and Rationale for the Use of Targeted Agents and Immunotherapy in Sinonasal Cancers.
Esposito A et al.
Journal of Clinical Medicine, 2022
Genomic landscape of advanced endometrial cancer analyzed by targeted next-generation sequencing and the cancer genome atlas (TCGA) dataset.
Hong JH et al.
Journal of Gynecologic Oncology, 2022
Segmental undergrowth is associated with pathogenic variants in vascular malformation genes: A retrospective case-series study.
Martinez-Glez V et al.
Clinical Genetics, 2022
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
Therapeutic implications of activating noncanonical PIK3CA mutations in head and neck squamous cell carcinoma.
Jin N et al.
The Journal of Clinical Investigation, 2021
Aberrant Signaling Pathways in Sinonasal Intestinal-Type Adenocarcinoma.
Riobello C et al.
Cancers, 2021
Next-generation sequencing for identification of actionable gene mutations in intestinal-type sinonasal adenocarcinoma.
Sánchez-Fernández P et al.
Scientific Reports, 2021
Diversity spectrum analysis identifies mutation-specific effects of cancer driver genes.
Dong X et al.
Communications Biology, 2020
The Immunogenic Potential of Recurrent Cancer Drug Resistance Mutations: An In Silico Study.
Punta M et al.
Frontiers in Immunology, 2020
Sequencing and curation strategies for identifying candidate glioblastoma treatments.
Frank MO et al.
Bmc Medical Genomics, 2019
Comparison of TCGA and GENIE genomic datasets for the detection of clinically actionable alterations in breast cancer.
Kaur P et al.
Scientific Reports, 2019
Class I Phosphoinositide 3-Kinase PIK3CA/p110α and PIK3CB/p110β Isoforms in Endometrial Cancer.
Mazloumi Gavgani F et al.
International Journal of Molecular Sciences, 2018
Characterization of PIK3CA and PIK3R1 somatic mutations in Chinese breast cancer patients.
Chen L et al.
Nature Communications, 2018
Nephroblastomatosis or Wilms tumor in a fourth patient with a somatic PIK3CA mutation.
Gripp KW et al.
American Journal of Medical Genetics. Part A, 2016
Functional characterization of somatic mutations in cancer using network-based inference of protein activity.
Alvarez MJ et al.
Nature Genetics, 2016
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G et al.
Jci Insight, 2016
Improved survival associated with somatic PIK3CA mutations in copy-number low endometrioid endometrial adenocarcinoma.
Lin DI
Oncology Letters, 2015
Mutational landscape and significance across 12 major cancer types.
Kandoth C et al.
Nature, 2013
Targeted sequencing of cancer-related genes in colorectal cancer using next-generation sequencing.
Han SW et al.
Plos One, 2013