Associated Papers
Molecular Mosaics: Unveiling Heterogeneity in Synchronous Colorectal Cancers.
Lee HG et al.
Cancer Research and Treatment, 2026
Germline Variants in the Immune Response-Related Genes: Possible Modifying Effect on Age-Dependent BRCA1 Penetrance in Breast Cancer Patient.
Kuligina ES et al.
Cancers, 2025
Multicenter In-House Evaluation of an Amplicon-Based Next-Generation Sequencing Panel for Comprehensive Molecular Profiling.
Jantus-Lewintre E et al.
Molecular Diagnosis & Therapy, 2025
A rare subtype of lynch syndrome familial with co-mutation of EpCAM c.344T>C, MSH2 c.2744A>G, PMS2 c.1408C>T and APC c.5465T>A, case report and literature review.
Lu G et al.
Frontiers in Genetics, 2025
Tumor DNA from tumor in situ fluid was used to track evolution of glioma under first-line treatment.
Yu J et al.
Frontiers in Oncology, 2025
Case Report: Recognition and management of SMARCA4-deficient renal cell carcinoma.
Wang W et al.
Frontiers in Oncology, 2025
Successful rapid improvement of acute respiratory distress syndrome induced by EGFR-mutated non-small cell lung cancer with almonertinib: a case report.
Sun C et al.
Bmc Pulmonary Medicine, 2024
PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants.
Sjursen W et al.
Hereditary Cancer in Clinical Practice, 2024
Targeted sequencing for hereditary breast and ovarian cancer in BRCA1/2-negative families reveals complex genetic architecture and phenocopies.
Plowman JN et al.
Hgg Advances, 2024
Protocol optimization of a targeted sequencing panel for genomic profiling of bronchoalveolar lavage fluid in lung cancer.
Sather CL et al.
Cancer Medicine, 2023
Liquid Biopsy of Cerebrospinal Fluid Enables Selective Profiling of Glioma Molecular Subtypes at First Clinical Presentation.
Orzan F et al.
Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2023
The association of blood ctDNA levels to mutations of marker genes in colorectal cancer.
Bai F et al.
Cancer Reports (hoboken, N.j.), 2023
Evaluation of AlphaFold structure-based protein stability prediction on missense variations in cancer.
Keskin Karakoyun H et al.
Frontiers in Genetics, 2023
Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E et al.
Biomolecules, 2022
MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome: A case report and review of literature.
Zhang XW et al.
World Journal of Clinical Cases, 2022
Prevalence and spectrum of DNA mismatch repair gene variation in the general Chinese population.
Zhang L et al.
Journal of Medical Genetics, 2022
Molecular landscape of TP53 mutations in breast cancer and their utility for predicting the response to HER-targeted therapy in HER2 amplification-positive and HER2 mutation-positive amplification-negative patients.
Liu B et al.
Cancer Medicine, 2022
Circulating Tumor DNA Profiling of a Diffuse Large B Cell Lymphoma Patient with Secondary Acute Myeloid Leukemia.
Kerle IA et al.
Cancers, 2022
Multifocal Organoid Capturing of Colon Cancer Reveals Pervasive Intratumoral Heterogenous Drug Responses.
Kim SC et al.
Advanced Science (weinheim, Baden-wurttemberg, Germany), 2022
A comprehensive next generation sequencing tissue assay for Asian-prevalent cancers-Analytical validation and performance evaluation with clinical samples.
Ng CC et al.
Frontiers in Molecular Biosciences, 2022
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Lincoln SE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Comprehensive Genomic and Transcriptomic Analysis of Three Synchronous Primary Tumours and a Recurrence from a Head and Neck Cancer Patient.
Bresadola L et al.
International Journal of Molecular Sciences, 2021
Targeted transcriptome analysis using synthetic long read sequencing uncovers isoform reprograming in the progression of colon cancer.
Liu S et al.
Communications Biology, 2021
Prevalence of germline pathogenic variants in 22 cancer susceptibility genes in Swedish pediatric cancer patients.
von Stedingk K et al.
Scientific Reports, 2021
Development and validation of a multigene variant profiling assay to guide targeted and immuno therapy selection in solid tumors.
Akolkar D et al.
Plos One, 2021
Identifying treatment options for BRAFV600 wild-type metastatic melanoma: A SU2C/MRA genomics-enabled clinical trial.
LoRusso PM et al.
Plos One, 2021
Identification of New Tumor-Related Gene Mutations in Chinese Gastrointestinal Stromal Tumors.
Feng Y et al.
Frontiers in Cell and Developmental Biology, 2021
Identification of novel candidate genes by exome sequencing in Tunisian familial male breast cancer patients.
Ben Kridis-Rejeb W et al.
Molecular Biology Reports, 2020
A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report.
García-Cárdenas JM et al.
Journal of Medical Case Reports, 2020
DNA Mismatch Repair Gene Variants in Sporadic Solid Cancers.
Caja F et al.
International Journal of Molecular Sciences, 2020
Somatic mutations in the DNA repairome in prostate cancers in African Americans and Caucasians.
Yadav S et al.
Oncogene, 2020
A novel virtual barcode strategy for accurate panel-wide variant calling in circulating tumor DNA.
Wu L et al.
Bmc Bioinformatics, 2020
Dissecting Mechanisms of Melanoma Resistance to BRAF and MEK Inhibitors Revealed Genetic and Non-Genetic Patient- and Drug-Specific Alterations and Remarkable Phenotypic Plasticity.
Hartman ML et al.
Cells, 2020
Identification of a novel germline frameshift mutation p.D300fs of PMS1 in a patient with hepatocellular carcinoma: A case report and literature review.
Li X et al.
Medicine, 2020
Development and Validation of a 34-Gene Inherited Cancer Predisposition Panel Using Next-Generation Sequencing.
Rosenthal SH et al.
Biomed Research International, 2020
Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation.
Thompson BA et al.
Frontiers in Genetics, 2020
Molecular landscape and efficacy of HER2-targeted therapy in patients with HER2-mutated metastatic breast cancer.
Yi Z et al.
Npj Breast Cancer, 2020
Olaparib is effective for recurrent urothelial carcinoma with BRCA2 pathogenic germline mutation: first report on olaparib response in recurrent UC.
Yang H et al.
Therapeutic Advances in Medical Oncology, 2020
A tailored molecular profiling programme for children with cancer to identify clinically actionable genetic alterations.
George SL et al.
European Journal of Cancer (oxford, England : 1990), 2019
Development of an MSI-positive colon tumor with aberrant DNA methylation in a PPAP patient.
Yamaguchi K et al.
Journal of Human Genetics, 2019
A case study of a long-term glioblastoma survivor with unmethylated MGMT and hypermutated genotype.
Jue TR et al.
Cold Spring Harbor Molecular Case Studies, 2019
Deleterious Mutations in DNA Repair Gene FANCC Exist in BRCA1/2-Negative Chinese Familial Breast and/or Ovarian Cancer Patients.
Pan ZW et al.
Frontiers in Oncology, 2019
appreci8: a pipeline for precise variant calling integrating 8 tools.
Sandmann S et al.
Bioinformatics (oxford, England), 2018