Associated Papers
A multiplex, prime editing framework for identifying drug resistance variants at scale.
Abadie FMC et al.
Cell Genomics, 2026
Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations.
Tagore S et al.
Nature Genetics, 2026
Case Report: Mixed ductal-lobular carcinoma consisting of invasive lobular carcinoma with a glycogen-rich clear cell pattern and elevated tumor mutation burden.
Kawachi K et al.
Frontiers in Oncology, 2026
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 2025
Enabling whole genome sequencing analysis from FFPE specimens in clinical oncology.
Domenico D et al.
Nature Communications, 2025
Resistance Mutation Profiles Associated with Current Treatments for Epidermal Growth Factor Receptor-Mutated Non-Small-Cell Lung Cancer in the United States: A Systematic Literature Review.
Vadagam P et al.
Current Oncology (toronto, Ont.), 2025
Genomic Profiling of Cardiac Angiosarcoma Reveals Novel Targetable KDR Variants, Recurrent MED12 Mutations, and a High Burden of Germline POT1 Alterations.
Odintsov I et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025
Early-onset fetal overgrowth: Prenatal phenotype of PIK3CA-related condition caused by a de novo constitutional variant.
Xie M et al.
Taiwanese Journal of Obstetrics & Gynecology, 2025
Large-scale analysis of whole genome sequencing data from formalin-fixed paraffin-embedded cancer specimens demonstrates preservation of clinical utility.
Basyuni S et al.
Nature Communications, 2024
Functional characterization of PI3K C2 domain mutations detected in breast cancer circulating tumor cells and metastatic cells.
Smit DJ et al.
Cellular Signalling, 2024
Beyond tobacco: genomic disparities in lung cancer between smokers and never-smokers.
Garrido J et al.
Bmc Cancer, 2024
Susceptibility gene mutations in germline and tumors of patients with HER2-negative advanced breast cancer.
Fasching PA et al.
Npj Breast Cancer, 2024
Delineation of the phenotypes and genotypes of PIK3CA-related overgrowth spectrum in East asians.
Chen H et al.
Molecular Genetics and Genomics : Mgg, 2024
Identifying prognostic biomarkers for palbociclib add-on therapy in fulvestrant-resistant breast cancer using cell-free DNA sequencing.
Takeshita T et al.
Esmo Open, 2024
Fetal Type Morphologies Suggest the Presence of DICER1 Hotspot Mutations in Non-small Cell Lung Cancer.
Chong AL et al.
The American Journal of Surgical Pathology, 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
Identification of an optimal mutant allele frequency to detect activating KRAS, NRAS, and BRAF mutations in a commercial cell-free DNA next-generation sequencing assay in colorectal and pancreatic adenocarcinomas.
Caughey BA et al.
Journal of Gastrointestinal Oncology, 2023
ER+, HER2- advanced breast cancer treated with taselisib and fulvestrant: genomic landscape and associated clinical outcomes.
Chen JW et al.
Molecular Oncology, 2023
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
Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations.
Chen H et al.
Orphanet Journal of Rare Diseases, 2023
Protein Tyrosine Phosphatase Non-Receptor 11 (PTPN11/Shp2) as a Driver Oncogene and a Novel Therapeutic Target in Non-Small Cell Lung Cancer (NSCLC).
Richards CE et al.
International Journal of Molecular Sciences, 2023
The Resistance to EGFR-TKIs in Non-Small Cell Lung Cancer: From Molecular Mechanisms to Clinical Application of New Therapeutic Strategies.
Laface C et al.
Pharmaceutics, 2023
A Gene Panel Associated With Abemaciclib Utility in ESR1-Mutated Breast Cancer After Prior Cyclin-Dependent Kinase 4/6-Inhibitor Progression.
Brett JO et al.
Jco Precision Oncology, 2023
Multiple PIK3CA mutation clonality correlates with outcomes in taselisib + fulvestrant-treated ER+/HER2-, PIK3CA-mutated breast cancers.
Hutchinson KE et al.
Genome Medicine, 2023
Genetic landscape and personalized tracking of tumor mutations in Vietnamese women with breast cancer.
Nguyen Hoang VA et al.
Molecular Oncology, 2023
Paired Comparison of Routine Molecular Screening of Patient Samples with Advanced Non-Small Cell Lung Cancer in Circulating Cell-Free DNA Using Three Targeted Assays.
Barthelemy D et al.
Cancers, 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
Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.
Álvarez-Prado ÁF et al.
Cell Reports. Medicine, 2023
Profiling PIK3CA variants in disorders of somatic mosaicism.
Mojarad BA et al.
Genetics in Medicine Open, 2023
Development of a Novel NGS Methodology for Ultrasensitive Circulating Tumor DNA Detection as a Tool for Early-Stage Breast Cancer Diagnosis.
Jiménez-Rodríguez B et al.
International Journal of Molecular Sciences, 2022
PIK3CA gain-of-function mutation in adipose tissue induces metabolic reprogramming with Warburg-like effect and severe endocrine disruption.
Ladraa S et al.
Science Advances, 2022
Tissue and liquid biopsy profiling reveal convergent tumor evolution and therapy evasion in breast cancer.
Sivakumar S et al.
Nature Communications, 2022
Integrative genomic and transcriptomic analyses illuminate the ontology of HER2-low breast carcinomas.
Berrino E et al.
Genome Medicine, 2022
Multiparametric Classification of Non-Muscle Invasive Papillary Urothelial Neoplasms: Combining Morphological, Phenotypical, and Molecular Features for Improved Risk Stratification.
Montes-Mojarro IA et al.
International Journal of Molecular Sciences, 2022
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
The Role of TP53 Mutations in EGFR-Mutated Non-Small-Cell Lung Cancer: Clinical Significance and Implications for Therapy.
Canale M et al.
Cancers, 2022
Next-Generation Sequencing-Directed Therapy in Patients with Metastatic Breast Cancer in Routine Clinical Practice.
Bruzas S et al.
Cancers, 2021
Validation of a liquid biopsy assay with molecular and clinical profiling of circulating tumor DNA.
Finkle JD et al.
Npj Precision Oncology, 2021
Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial.
Bertucci F et al.
Genome Medicine, 2021
Genomic profile of advanced breast cancer in circulating tumour DNA.
Kingston B et al.
Nature Communications, 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
Assessment of Clinical Benefit of Integrative Genomic Profiling in Advanced Solid Tumors.
Cobain EF et al.
Jama Oncology, 2021
A genetically defined signature of responsiveness to erlotinib in early-stage pancreatic cancer patients: Results from the CONKO-005 trial.
Hoyer K et al.
Ebiomedicine, 2021
NODAL/TGFβ signalling mediates the self-sustained stemness induced by PIK3CAH1047R homozygosity in pluripotent stem cells.
Madsen RR et al.
Disease Models & Mechanisms, 2021
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021