Associated Papers
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Elife, 2025
Functional characterization of all CDKN2A missense variants and comparison to in silico models of pathogenicity.
Kimura H et al.
Biorxiv : the Preprint Server for Biology, 2025
Targeted therapy guided by circulating tumor DNA analysis in advanced gastrointestinal tumors.
Nakamura Y et al.
Nature Medicine, 2025
Malignant melanoma in a 12-year-old boy 17 months after completing hepatoblastoma treatment.
Kanezawa K et al.
Cancer Reports (hoboken, N.j.), 2024
Clinical utility of Todai OncoPanel in the setting of approved comprehensive cancer genomic profiling tests in Japan.
Kage H et al.
Cancer Science, 2023
CDK4 phosphorylation status and rational use for combining CDK4/6 and BRAF/MEK inhibition in advanced thyroid carcinomas.
Pita JM et al.
Frontiers in Endocrinology, 2023
Characteristics of BRCA2 Mutated Prostate Cancer at Presentation.
Han H et al.
International Journal of Molecular Sciences, 2022
Early dynamics of circulating tumor DNA predict clinical response to immune checkpoint inhibitors in metastatic renal cell carcinoma.
Koh Y et al.
International Journal of Urology : Official Journal of the Japanese Urological Association, 2022
Functional CDKN2A assay identifies frequent deleterious alleles misclassified as variants of uncertain significance.
Kimura H et al.
Elife, 2022
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Aoyagi Y et al.
Plos One, 2022
The LOVD3 platform: efficient genome-wide sharing of genetic variants.
Fokkema IFAC et al.
European Journal of Human Genetics : Ejhg, 2021
Genetic and transcriptomic analyses in a rare case of human papillomavirus-related oropharyngeal squamous-cell carcinoma combined with small-cell carcinoma.
Sato K et al.
Cold Spring Harbor Molecular Case Studies, 2021
Mutation Profile of Aggressive Pheochromocytoma and Paraganglioma with Comparison of TCGA Data.
Choi YM et al.
Cancers, 2021
Mutation profile and immunoscore signature in thymic carcinomas: An exploratory study and review of the literature.
Asselta R et al.
Thoracic Cancer, 2021
RNA sequencing as an alternative tool for detecting measurable residual disease in core-binding factor acute myeloid leukemia.
Kim T et al.
Scientific Reports, 2020
Fractionated small cell-free DNA increases possibility to detect cancer-related gene mutations in advanced colorectal cancer.
Ishida Y et al.
Jgh Open : an Open Access Journal of Gastroenterology and Hepatology, 2020
Identification of Circulating Genomic and Metabolic Biomarkers in Intrahepatic Cholangiocarcinoma.
Winter H et al.
Cancers, 2019
High prevalence of the MLH1 V384D germline mutation in patients with HER2-positive luminal B breast cancer.
Lee SE et al.
Scientific Reports, 2019
Targeted mutation detection in breast cancer using MammaSeq™.
Smith NG et al.
Breast Cancer Research : Bcr, 2019
Molecular Screening of Small Biopsy Samples Using Next-Generation Sequencing in Korean Patients with Advanced Non-small Cell Lung Cancer: Korean Lung Cancer Consortium (KLCC-13-01).
Ku BM et al.
Journal of Pathology and Translational Medicine, 2018
Genomic Profiling on an Unselected Solid Tumor Population Reveals a Highly Mutated Wnt/β-Catenin Pathway Associated with Oncogenic EGFR Mutations.
Jiang J et al.
Journal of Personalized Medicine, 2018
Tumorigenicity-associated characteristics of human iPS cell lines.
Yasuda S et al.
Plos One, 2018
NGS based identification of mutational hotspots for targeted therapy in anaplastic thyroid carcinoma.
Tiedje V et al.
Oncotarget, 2017
Cancer gene panel analysis of cultured circulating tumor cells and primary tumor tissue from patients with breast cancer.
Hwang E et al.
Oncology Letters, 2017
Germline Variants of Prostate Cancer in Japanese Families.
Hayano T et al.
Plos One, 2016
HER2 as a novel therapeutic target for cervical cancer.
Oh DY et al.
Oncotarget, 2015
Identification of Driving ALK Fusion Genes and Genomic Landscape of Medullary Thyroid Cancer.
Ji JH et al.
Plos Genetics, 2015
Analytical and Clinical Validation of a Digital Sequencing Panel for Quantitative, Highly Accurate Evaluation of Cell-Free Circulating Tumor DNA.
Lanman RB et al.
Plos One, 2015
Assessment of computational methods for predicting the effects of missense mutations in human cancers.
Gnad F et al.
Bmc Genomics, 2013
Predicting the functional impact of protein mutations: application to cancer genomics.
Reva B et al.
Nucleic Acids Research, 2011
Classifying variants of CDKN2A using computational and laboratory studies.
Miller PJ et al.
Human Mutation, 2011
The structural impact of cancer-associated missense mutations in oncogenes and tumor suppressors.
Stehr H et al.
Molecular Cancer, 2011
Recurrent patterns of dual RB and p53 pathway inactivation in melanoma.
Yang G et al.
The Journal of Investigative Dermatology, 2005