Associated Papers
Determining the optimal approach to identify osimertinib resistance; the first line osimertinib cohort of the OSIRIS study.
van der Wel JWT et al.
Lung Cancer (amsterdam, Netherlands), 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Prognostic significance of circulating tumor DNA alterations in advanced renal cell carcinoma from SCRUM-Japan MONSTAR-SCREEN: a nationwide genomic profiling project.
Kato T et al.
British Journal of Cancer, 2025
Somatic PIK3R1 mutations in the iSH2 domain are accessible to PI3Kα inhibition.
Morin G et al.
Embo Molecular Medicine, 2025
Comprehensive mapping elucidates high risk genotypes in primary metastatic breast cancer.
Berg T et al.
Neoplasia (new York, N.y.), 2025
DNA damage response and repair gene mutations predict clinical outcomes in biliary tract cancer.
Tan S et al.
Cancer, 2025
Unveiling immunogenic characteristics and neoantigens in endometrial cancer with POLE hotspot mutations for improved immunotherapy.
Huang J et al.
Frontiers in Immunology, 2025
Assessing Protein Surface-Based Scoring for Interpreting Genomic Variants.
Dsouza NR et al.
International Journal of Molecular Sciences, 2024
Clinical phenotype of the PIK3R1-related vascular overgrowth syndrome.
Kuentz P et al.
The British Journal of Dermatology, 2024
Ichthyosis uteri complicated by endometrial adenocarcinoma with transitional cell differentiation: A case report.
Ding L et al.
Medicine, 2024
Structural and Dynamic Analyses of Pathogenic Variants in PIK3R1 Reveal a Shared Mechanism Associated among Cancer, Undergrowth, and Overgrowth Syndromes.
Dsouza NR et al.
Life (basel, Switzerland), 2024
A Case of Lynch Syndrome-Associated Colorectal Adenocarcinoma in a 19-Year-Old Female Patient.
Iqbal A et al.
Cureus, 2023
Concordance between cancer gene alterations in tumor and circulating tumor DNA correlates with poor survival in a real-world precision-medicine population.
Rosenberg S et al.
Molecular Oncology, 2023
The landscape of tumor cell states and spatial organization in H3-K27M mutant diffuse midline glioma across age and location.
Liu I et al.
Nature Genetics, 2022
Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.
Zhang Y et al.
Neuro-oncology, 2022
Early diagnosis enabling precision medicine treatment in a young boy with PIK3R1-related overgrowth.
Schönewolf-Greulich B et al.
European Journal of Medical Genetics, 2022
Duplex Sequencing Uncovers Recurrent Low-frequency Cancer-associated Mutations in Infant and Childhood KMT2A-rearranged Acute Leukemia.
Pilheden M et al.
Hemasphere, 2022
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E et al.
Biomolecules, 2022
Circulating tumor DNA sequencing provides comprehensive mutation profiling for pediatric central nervous system tumors.
Bonner ER et al.
Npj Precision Oncology, 2022
The Impact of PIK3R1 Mutations and Insulin-PI3K-Glycolytic Pathway Regulation in Prostate Cancer.
Chakraborty G et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2022
Whole-Exome Sequencing Reveals Clinical Potential of Circulating Tumor DNA from Peritoneal Fluid and Plasma in Endometrial Cancer.
Ju HY et al.
Cancers, 2022
The clinical significance of adenomatous polyposis coli (APC) and catenin Beta 1 (CTNNB1) genetic aberrations in patients with melanoma.
Karachaliou GS et al.
Bmc Cancer, 2022
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain.
Leung SOA et al.
The Oncologist, 2021
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth.
Cottrell CE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021