Associated Papers
Prenatal Diagnosis of Malformations of Cortical Development: A Review of Genetic and Imaging Advances.
Hu J et al.
Biomedicines, 2026
Phylogenetic analysis of paired breast carcinomas identifies genetic events associated with clonal recurrence and invasive progression.
Kader T et al.
The Journal of Pathology, 2026
Concurrent genomic assessment of circulating tumour cells and ctDNA to guide therapy in metastatic breast cancer.
Allsopp RC et al.
Bmc Cancer, 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
Paired tumor-normal sequencing provides insights into the CDKN2A-associated tumor spectrum.
Breen KE et al.
Npj Precision Oncology, 2025
Clinical and genomic features of Lynch syndrome differ by tumor site and disease spectrum.
Li S et al.
Nature Communications, 2025
High Prevalence of Potential Molecular Therapeutic Targets in Poorly Differentiated Thyroid Carcinoma.
Zambelli V et al.
Endocrine Pathology, 2025
Automated and Decentralized Genomic Profiling of Plasma Cell-Free DNA for Identification of Targetable and Resistance Alterations in Advanced Solid Tumors.
Chan HT et al.
Clinical Chemistry, 2025
Circulating tumor DNA profiling for non-invasive genomic analysis in Indian lung cancer patients: A real-world experience.
Jha P et al.
The Journal of Liquid Biopsy, 2025
ESR1 testing on FFPE samples from metastatic lesions in HR + /HER2- breast cancer after progression on CDK4/6 inhibitor therapy.
Venetis K et al.
Breast Cancer Research : Bcr, 2025
Comprehensive Genomic Profiling of Indian Patients With Lung Cancer.
Sharma S et al.
Jco Global Oncology, 2025
Exploring the Genetic and Clinical Landscape of Dedifferentiated Endometrioid Carcinoma.
Haraga H et al.
International Journal of Molecular Sciences, 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
Low lymphozyte pool, colon perforation and hydrocephalus as clinical features in an infant with a postzygotic PIK3CA variant.
Léon-Lara X et al.
Frontiers in Pediatrics, 2025
The theory of massively repeated evolution and full identifications of cancer-driving nucleotides (CDNs).
Zhang L et al.
Elife, 2024
Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.
Varachev V et al.
International Journal of Molecular Sciences, 2024
Oncogenic composite mutations can be predicted by co-mutations and their chromosomal location.
Küçükosmanoglu A et al.
Molecular Oncology, 2024
Integrating Genetic Alterations and Histopathological Features for Enhanced Risk Stratification in Non-Muscle-Invasive Bladder Cancer.
Lillesand M et al.
Diagnostics (basel, Switzerland), 2024
Somatic mutations in 3929 HPV positive cervical cells associated with infection outcome and HPV type.
Pinheiro M et al.
Nature Communications, 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
Distinct Driver Pathway Enrichments and a High Prevalence of TSC2 Mutations in Right Colon Cancer in Chile: A Preliminary Comparative Analysis.
Tapia-Valladares C et al.
International Journal of Molecular Sciences, 2024
Combination of mutations in genes controlling DNA repair and high mutational load plays a prognostic role in pancreatic ductal adenocarcinoma (PDAC): a retrospective real-life study in Sardinian population.
Sini MC et al.
Journal of Translational Medicine, 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
Neurodevelopmental disorders and cancer networks share pathways, but differ in mechanisms, signaling strength, and outcome.
Yavuz BR et al.
Npj Genomic Medicine, 2023
Identification of cancer driver mutations in liquid-based cytology samples for the screening of endometrial diseases.
Matsuura M et al.
Bjc Reports, 2023
Different gene alterations in patients with non-small-cell lung cancer between the eastern and southern China.
Liu C et al.
Heliyon, 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
Pure and mixed clear cell carcinoma of the endometrium: A molecular and immunohistochemical analysis study.
Reijnen C et al.
Cancer Medicine, 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
Clinical and functional characterization of germline PIK3CA variants in patients with PIK3CA-related overgrowth spectrum disorders.
Cooley Coleman JA et al.
Human Molecular Genetics, 2023
Neurodevelopmental disorders and cancer networks share pathways; but differ in mechanisms, signaling strength, and outcome.
Yavuz BR et al.
Biorxiv : the Preprint Server for Biology, 2023
Assessment of the Mutation Profile of Tonsillar Squamous Cell Carcinomas Using Targeted Next-Generation Sequencing.
Park HY et al.
Biomedicines, 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
The landscape of actionable genomic alterations in lung adenocarcinomas in India.
Sharma R et al.
Frontiers in 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
Endometrial polyps are non-neoplastic but harbor epithelial mutations in endometrial cancer drivers at low allelic frequencies.
Sahoo SS et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2022
Actionable Mutation Profile of Sun-Protected Melanomas in South America.
Hsieh R et al.
The American Journal of Dermatopathology, 2022
Targeted Next-Generation Sequencing-Based Multiple Gene Mutation Profiling of Patients with Rectal Adenocarcinoma Receiving or Not Receiving Neoadjuvant Chemoradiotherapy.
Chang YK et al.
International Journal of Molecular Sciences, 2022
Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study.
Elliott AM et al.
Hgg Advances, 2022
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.
Trotman J et al.
British Journal of Cancer, 2022
High prevalence of somatic PIK3CA and TP53 pathogenic variants in the normal mammary gland tissue of sporadic breast cancer patients revealed by duplex sequencing.
Kostecka A et al.
Npj Breast Cancer, 2022
Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool.
Villafranca-Magdalena B et al.
International Journal of Molecular Sciences, 2022
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Investigating the genomic alteration improved the clinical outcome of aged patients with lung carcinoma.
Chen S et al.
Bmc Genomics, 2022