Associated Papers
Genomic Profiling in Glioma Patients to Explore Clinically Relevant Markers.
Varachev V et al.
International Journal of Molecular Sciences, 2024
Representing mutations for predicting cancer drug response.
Wall P et al.
Bioinformatics (oxford, England), 2024
Comprehensive genomic profiling and therapeutic implications for Taiwanese patients with treatment-naïve breast cancer.
Chen SH et al.
Cancer Medicine, 2024
Genomic profiling and clinical utility of circulating tumor DNA in metastatic prostate cancer: SCRUM-Japan MONSTAR SCREEN project.
Shiota M et al.
Bjc Reports, 2024
Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit.
Walsh RJ et al.
Frontiers in Oncology, 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
Clinically actionable cancer somatic variants (CACSV): a tumor interpreted dataset for analytical workflows.
Sobahy TM et al.
Bmc Medical Genomics, 2022
RNA-SSNV: A Reliable Somatic Single Nucleotide Variant Identification Framework for Bulk RNA-Seq Data.
Long Q et al.
Frontiers in Genetics, 2022
A scalable Drosophila assay for clinical interpretation of human PTEN variants in suppression of PI3K/AKT induced cellular proliferation.
Ganguly P et al.
Plos Genetics, 2021
The PI3K/mTOR Pathway Is Targeted by Rare Germline Variants in Patients with Both Melanoma and Renal Cell Carcinoma.
Hubert JN et al.
Cancers, 2021
Plasma ctDNA is a tumor tissue surrogate and enables clinical-genomic stratification of metastatic bladder cancer.
Vandekerkhove G et al.
Nature Communications, 2021
CTNNB1 p.L31P mutation in an ovarian endometrioid carcinoma with synchronous uterine endometrioid carcinoma.
Pecorella I et al.
Pathology, Research and Practice, 2020
Utility of a custom designed next generation DNA sequencing gene panel to molecularly classify endometrial cancers according to The Cancer Genome Atlas subgroups.
Miller EM et al.
Bmc Medical Genomics, 2020
Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.
Mateo L et al.
Genome Medicine, 2020
Infantile macrocephaly and multiple subcutaneous lipomas diagnosed with PTEN hamartoma tumor syndrome: A case report.
Yotsumoto Y et al.
Molecular and Clinical Oncology, 2020
Dissection of major cancer gene variants in subsets of circulating tumor cells in advanced breast cancer.
D'Oronzo S et al.
Scientific Reports, 2019
A novel missense PTEN mutation identified in a patient with macrocephaly and developmental delay.
Ueno Y et al.
Human Genome Variation, 2019
Molecular profiling of advanced solid tumors and patient outcomes with genotype-matched clinical trials: the Princess Margaret IMPACT/COMPACT trial.
Stockley TL et al.
Genome Medicine, 2016
Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Spinelli L et al.
Journal of Medical Genetics, 2015
Molecular profiling of endometrial carcinoma precursor, primary and metastatic lesions suggests different targets for treatment in obese compared to non-obese patients.
Berg A et al.
Oncotarget, 2015
Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations.
Vanderver A et al.
American Journal of Medical Genetics. Part A, 2014
PTEN hamartoma tumor syndromes in childhood: description of two cases and a proposal for follow-up protocol.
Piccione M et al.
American Journal of Medical Genetics. Part A, 2013
Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features.
Pilarski R et al.
Journal of Medical Genetics, 2011
Thyroid pathology in PTEN-hamartoma tumor syndrome: characteristic findings of a distinct entity.
Laury AR et al.
Thyroid : Official Journal of the American Thyroid Association, 2011
Mucocutaneous papillomatous papules in Cowden's syndrome.
Jornayvaz FR et al.
Clinical and Experimental Dermatology, 2008
Novel PTEN mutations in patients with Cowden disease: absence of clear genotype-phenotype correlations.
Nelen MR et al.
European Journal of Human Genetics : Ejhg, 1999
Landscape of driver gene events, biomarkers, and druggable targets identified by whole-genome sequencing of glioblastomas.
van de Geer WS et al.
Neuro-oncology Advances, 0