Associated Papers
Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.
O'Sullivan S et al.
American Journal of Medical Genetics. Part A, 2025
Molecular substratification of endometrial carcinomas with no special molecular profile (NSMP) by using a limited NGS custom panel may facilitate effective patient selection for the PIK3CA-targeted therapy.
Ondič O et al.
Virchows Archiv : an International Journal of Pathology, 2025
Longitudinal multimodal profiling of IDH-wildtype glioblastoma reveals the molecular evolution and cellular phenotypes underlying prognostically different treatment responses.
Lucas CG et al.
Neuro-oncology, 2025
Hallmarks of a genomically distinct subclass of head and neck cancer.
Muijlwijk T et al.
Nature Communications, 2024
Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.
Küçükosmanoglu A et al.
Molecular Oncology, 2024
Organismal metabolism regulates the expansion of oncogenic PIK3CA mutant clones in normal esophagus.
Herms A et al.
Nature Genetics, 2024
Evolving driver mutations in adult-onset SHH-medulloblastoma originated from radiological cerebellar abnormality.
Shibahara I et al.
Journal of Neuropathology and Experimental Neurology, 2024
Beyond tobacco: genomic disparities in lung cancer between smokers and never-smokers.
Garrido J et al.
Bmc Cancer, 2024
Copy number signatures and CCNE1 amplification reveal the involvement of replication stress in high-grade endometrial tumors oncogenesis.
Marlin R et al.
Cellular Oncology (dordrecht, Netherlands), 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
Molecular characterization of 13 patients with PIK3CA-related overgrowth spectrum using a targeted deep sequencing approach.
de Kock L et al.
American Journal of Medical Genetics. Part A, 2024
A Phase II trial of alternating osimertinib and gefitinib therapy in advanced EGFR-T790M positive non-small cell lung cancer: OSCILLATE.
Tan L et al.
Nature Communications, 2024
Genomic profiling of ovarian clear cell carcinoma in Chinese patients reveals potential prognostic biomarkers for survival.
Ye S et al.
Annals of Medicine, 2023
Epidemiology of the disorders of the Pik3ca-related overgrowth spectrum (Pros).
Reynolds G et al.
European Journal of Human Genetics : Ejhg, 2023
Whole exome sequencing identifies novel variants of PIK3CA and validation of hotspot mutation by droplet digital PCR in breast cancer among Indian population.
Kumar R et al.
Cancer Cell International, 2023
Targeted next-generation sequencing for detection of PIK3CA mutations in archival tissues from patients with Klippel-Trenaunay syndrome in an Asian population : List the full names and institutional addresses for all authors.
Sasaki Y et al.
Orphanet Journal of Rare Diseases, 2023
Somatic variants of MAP3K3 are sufficient to cause cerebral and spinal cord cavernous malformations.
Ren J et al.
Brain : a Journal of Neurology, 2023
Somatic mutation spectrum of a Chinese cohort of pediatrics with vascular malformations.
Zhang B et al.
Orphanet Journal of Rare Diseases, 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
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
Prospective genomically guided identification of "early/evolving" and "undersampled" IDH-wildtype glioblastoma leads to improved clinical outcomes.
Zhang Y et al.
Neuro-oncology, 2022
Clinical and Molecular Spectrum of Sporadic Vascular Malformations: A Single-Center Study.
Diociaiuti A et al.
Biomedicines, 2022
Genetic care in geographically isolated small island communities: 8 years of experience in the Dutch Caribbean.
Verberne EA et al.
American Journal of Medical Genetics. Part A, 2022
Association between TP53 mutation and high 21-gene recurrence score in estrogen receptor-positive/HER2-negative breast cancer.
Ji JH et al.
Npj Breast Cancer, 2022
Hypoglycemia due to PI3K/AKT/mTOR signaling pathway defects: two novel cases and review of the literature.
Maines E et al.
Hormones (athens, Greece), 2021
Safety and efficacy of low-dose PI3K inhibitor taselisib in adult patients with CLOVES and Klippel-Trenaunay syndrome (KTS): the TOTEM trial, a phase 1/2 multicenter, open-label, single-arm study.
Luu M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Discrimination Between Primary Lung Cancer and Lung Metastases by Genomic Profiling.
Higuchi R et al.
Jto Clinical and Research Reports, 2021
Aberrant muscular hyperplasia of the hand and PIK3CA related overgrowth spectrum disorders. A case series study.
Delgado-Miguel C et al.
Cirugia Pediatrica : Organo Oficial De La Sociedad Espanola De Cirugia Pediatrica, 2021
Comprehensive genomic profiling of histologic subtypes of urethral carcinomas.
Jacob J et al.
Urologic Oncology, 2021
Spatially interacting phosphorylation sites and mutations in cancer.
Huang KL et al.
Nature Communications, 2021
Frequent post-operative monitoring of colorectal cancer using individualised ctDNA validated by multiregional molecular profiling.
Yaegashi M et al.
British Journal of Cancer, 2021
Clinical implications of plasma circulating tumor DNA in gynecologic cancer patients.
Charo LM et al.
Molecular Oncology, 2021
A flexible computational pipeline for research analyses of unsolved clinical exome cases.
Lassmann T et al.
Npj Genomic Medicine, 2020
Megalencephaly-Capillary Malformation-Polymicrogyria with Cerebral Venous Thrombosis.
Fortin O et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2020
Somatic Variant Analysis Identifies Targets for Tailored Therapies in Patients with Vascular Malformations.
Paolacci S et al.
Journal of Clinical Medicine, 2020
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA mutations.
Park HJ et al.
Orphanet Journal of Rare Diseases, 2020
Genomic Profiling of Circulating Tumor DNA Predicts Outcome and Demonstrates Tumor Evolution in ALK-Positive Non-Small Cell Lung Cancer Patients.
Madsen AT et al.
Cancers, 2020
Use of Gefitinib in EGFR-Amplified Refractory Solid Tumors: An Open-Label, Single-Arm, Single-Center Prospective Pilot Study.
Byeon S et al.
Targeted Oncology, 2020
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA.
Davis S et al.
American Journal of Medical Genetics. Part A, 2020
Prevalence and characteristics of PIK3CA mutation in mismatch repair-deficient colorectal cancer.
Li W et al.
Journal of Cancer, 2020
Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Lalonde E et al.
Molecular Genetics & Genomic Medicine, 2019
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019