Associated Papers
DNA polymerase epsilon-mutant colorectal cancers: Insights into non-exonuclease domain mutation variants, microsatellite instability status, and co-mutation profiles.
Taskiran I et al.
World Journal of Gastroenterology, 2025
Atypical Manifestations of Cowden Syndrome in Pediatric Patients.
Zelenova E et al.
Diagnostics (basel, Switzerland), 2025
Complete genomic profiles of 1496 Taiwanese reveal curated medical insights.
Hsu JS et al.
Journal of Advanced Research, 2024
Evaluation of whole genome sequencing utility in identifying driver alterations in cancer genome.
Nagashima T et al.
Scientific Reports, 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
vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Munté E et al.
Bioinformatics (oxford, England), 2023
Whole-exome sequencing analysis identifies distinct mutational profile and novel prognostic biomarkers in primary gastrointestinal diffuse large B-cell lymphoma.
Li SS et al.
Experimental Hematology & Oncology, 2022
PD-L1 targeting and subclonal immune escape mediated by PD-L1 mutations in metastatic colorectal cancer.
Stein A et al.
Journal for Immunotherapy of Cancer, 2021
First case report of a NUP98-PMX1 rearrangement in de novo acute myeloid leukemia and literature review.
Fu W et al.
Bmc Medical Genomics, 2021
Tumor Signature Analysis Implicates Hereditary Cancer Genes in Endometrial Cancer Development.
Kondrashova O et al.
Cancers, 2021
Clinical impact of subclonal EGFR T790M mutations in advanced-stage EGFR-mutant non-small-cell lung cancers.
Vaclova T et al.
Nature Communications, 2021
Archival bone marrow smears are useful in targeted next-generation sequencing for diagnosing myeloid neoplasms.
Sadato D et al.
Plos One, 2021
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Somatic gene mutation signatures predict cancer type and prognosis in multiple cancers with pan-cancer 1000 gene panel.
Wang HL et al.
Cancer Letters, 2020
Monitoring treatment efficacy and resistance in breast cancer patients via circulating tumor DNA genomic profiling.
Chen Z et al.
Molecular Genetics & Genomic Medicine, 2020
Resectable lung lesions malignancy assessment and cancer detection by ultra-deep sequencing of targeted gene mutations in plasma cell-free DNA.
Peng M et al.
Journal of Medical Genetics, 2019
Combining ERBB family and MET inhibitors is an effective therapeutic strategy in cutaneous malignant melanoma independent of BRAF/NRAS mutation status.
Das I et al.
Cell Death & Disease, 2019
A research-based gene panel to investigate breast, ovarian and prostate cancer genetic risk.
Bishop MR et al.
Plos One, 2019
Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Mester JL et al.
Human Mutation, 2018
Characterization of cryptic splicing in germline PTEN intronic variants in Cowden syndrome.
Chen HJ et al.
Human Mutation, 2017
EGFR pathway subgroups in Chilean colorectal cancer patients, detected by mutational and expression profiles, associated to different clinicopathological features.
Alvarez K et al.
Tumour Biology : the Journal of the International Society for Oncodevelopmental Biology and Medicine, 2017
Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
LaDuca H et al.
Plos One, 2017