Associated Papers
Alpelisib, a PI3Kα inhibitor, effectively treats vascular anomalies with diverse genotypes and phenotypes.
Pithadia DJ et al.
Blood Vessels, Thrombosis & Hemostasis, 2026
Blood-Based Genomic Alteration Signature for Predicting Progression-Free Survival in De Novo Metastatic Hormone-Sensitive Prostate Cancer: A Real-World Study.
Wang R et al.
Cancer Research Communications, 2025
Developmental and behavioral phenotypes of pediatric patients with PTEN hamartoma tumor syndrome.
MacFarland SP et al.
American Journal of Medical Genetics. Part A, 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
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk.
Chen JL et al.
Annual Review of Genomics and Human Genetics, 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
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
Chromosome 2q gain and epigenetic silencing of GATA3 in microglandular adenosis of the breast.
Radner M et al.
The Journal of Pathology. Clinical Research, 2021
Targeted next-generation sequencing of endometrial cancer and matched circulating tumor DNA: identification of plasma-based, tumor-associated mutations in early stage patients.
Bolivar AM et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019
Functional characterization of somatic mutations in cancer using network-based inference of protein activity.
Alvarez MJ et al.
Nature Genetics, 2016
Loss of heterozygosity: what is it good for?
Ryland GL et al.
Bmc Medical Genomics, 2015
Mutational landscape and significance across 12 major cancer types.
Kandoth C et al.
Nature, 2013
DNA polymerase ε and δ exonuclease domain mutations in endometrial cancer.
Church DN et al.
Human Molecular Genetics, 2013
Multiple primary malignancies and subtle mucocutaneous lesions associated with a novel PTEN gene mutation in a patient with Cowden syndrome: case report.
Vasovčák P et al.
Bmc Medical Genetics, 2011