Associated Papers
Pan-cancer inference and validation of hypermorphic, hypomorphic and neomorphic mutations.
Tagore S et al.
Nature Genetics, 2026
Genomic alterations linked to recurrence risk in high-grade serous ovarian cancer revealed by deep targeted sequencing.
Park YH et al.
Scientific Reports, 2025
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
PIK3CA-Related Phenotypes due to Germline and Somatic Mosaic Variants: A two-Case Report.
Acikgoz NB et al.
Molecular Syndromology, 2025
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
Variants of Uncertain Significance in Vascular Anomalies: The Role of Reclassification.
Blatt J et al.
Pediatric Blood & Cancer, 2025
A Next-Generation BRAF Inhibitor Overcomes Resistance to BRAF Inhibition in Patients with BRAF-Mutant Cancers Using Pharmacokinetics-Informed Dose Escalation.
Yaeger R et al.
Cancer Discovery, 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
Prevalence of targetable genomic alterations in young women with advanced breast cancer: a cross-sectional study.
Blansky D et al.
Breast Cancer Research and Treatment, 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
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
Delineation of the phenotypes and genotypes of facial infiltrating lipomatosis associated with PIK3CA mutations.
Chen H et al.
Orphanet Journal of Rare Diseases, 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
Intratumor genetic heterogeneity and clonal evolution to decode endometrial cancer progression.
Mota A et al.
Oncogene, 2022
Predictive Biomarkers for Immune Checkpoint Inhibitors in Metastatic Breast Cancer.
Sivapiragasam A et al.
Cancer Medicine, 2021
Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing.
Shen W et al.
Journal of Medical Genetics, 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
Prevalence and characteristics of PIK3CA mutation in mismatch repair-deficient colorectal cancer.
Li W et al.
Journal of Cancer, 2020
Germline pathogenic variant in PIK3CA leading to symmetrical overgrowth with marked macrocephaly and mild global developmental delay.
Zollino M et al.
Molecular Genetics & Genomic Medicine, 2019
A clinical survey of mosaic single nucleotide variants in disease-causing genes detected by exome sequencing.
Cao Y et al.
Genome Medicine, 2019
Molecular diagnosis of somatic overgrowth conditions: A single-center experience.
Lalonde E et al.
Molecular Genetics & Genomic Medicine, 2019
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
Molecular Diagnosis of Mosaic Overgrowth Syndromes Using a Custom-Designed Next-Generation Sequencing Panel.
Chang F et al.
The Journal of Molecular Diagnostics : Jmd, 2017
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
First-in-human phase I study of copanlisib (BAY 80-6946), an intravenous pan-class I phosphatidylinositol 3-kinase inhibitor, in patients with advanced solid tumors and non-Hodgkin's lymphomas.
Patnaik A et al.
Annals of Oncology : Official Journal of the European Society for Medical Oncology, 2016
PIK3CA-associated developmental disorders exhibit distinct classes of mutations with variable expression and tissue distribution.
Mirzaa G et al.
Jci Insight, 2016
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of "PIK3CA-Related Overgrowth Spectrum".
Di Donato N et al.
Human Mutation, 2016
Performance characteristics of next-generation sequencing in clinical mutation detection of colorectal cancers.
Haley L et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2015
PIK3CA-related overgrowth spectrum (PROS): diagnostic and testing eligibility criteria, differential diagnosis, and evaluation.
Keppler-Noreuil KM et al.
American Journal of Medical Genetics. Part A, 2015
Hemimegalencephaly, a paradigm for somatic postzygotic neurodevelopmental disorders.
Baek ST et al.
Current Opinion in Neurology, 2013
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB et al.
Nature Genetics, 2012