Associated Papers
Novel Insights into the Enigmatic Genetics of Male Breast Cancer in China.
Lang GT et al.
Pathophysiology : the Official Journal of the International Society for Pathophysiology, 2026
Comparative Analysis of a Dual DNA-RNA Panel and a DNA-Only Panel for Sarcoma: Real-World Data From a Nationwide Genomic Database.
Nakata E et al.
Cancer Science, 2026
Molecular analysis of the evolutionary history of endometrial and ovarian carcinoma in Lynch syndrome.
Kauppinen AK et al.
International Journal of Cancer, 2025
Phenotypic expansion of retinal abnormalities in folliculin (FLCN) variant-related pathology (Birt-Hogg-Dubé syndrome).
August AH et al.
Ophthalmic Genetics, 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Genomic profiling in hepatocellular carcinoma: a real-world retrospective analysis.
Salani F et al.
Esmo Open, 2025
Successful Identification and Treatment of Cancer of Unknown Primary Originating From Gastric Cancer Using Comprehensive Genomic Profiling and Immune Checkpoint Inhibitor Therapy: A Case Report.
Sasaki T et al.
Cancer Reports (hoboken, N.j.), 2025
A neomorphic protein interface catalyzes covalent inhibition of RASG12D aspartic acid in tumors.
Weller C et al.
Science (new York, N.y.), 2025
NTRK Fusions in Xanthogranuloma, a Clinicopathologic and Molecular Analysis of 23 Cases.
Umphress B et al.
The American Journal of Surgical Pathology, 2025
Thyroid Carcinoma in Birt-Hogg-Dubé Syndrome: Case Series and Review of Literature.
Vaid S et al.
Thyroid : Official Journal of the American Thyroid Association, 2025
Folliculin (FLCN) in Thyroid Tumors: Incidence, Significance, and Role as a Driver Gene and Secondary Alteration.
Hassan FA et al.
Current Oncology (toronto, Ont.), 2025
Clinical implementation of next-generation sequencing testing and genomically-matched therapy: a real-world data in a tertiary hospital.
Kim JW et al.
Scientific Reports, 2025
PRKC Fusion Melanocytic Tumors, a Subgroup of Melanocytic Tumors More Closely Aligned to Blue Nevi Than to PRKAR1A-inactivated Pigmented Epithelioid Melanocytomas.
Patel P et al.
The American Journal of Surgical Pathology, 2024
Germline functional variants contribute to somatic mutation and outcomes in neuroblastoma.
Seo ES et al.
Nature Communications, 2024
Landscape of potential germline pathogenic variants in select cancer susceptibility genes in patients with adult-type ovarian granulosa cell tumors.
Summey RM 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
Panitumumab Plus Trifluridine-Tipiracil as Anti-Epidermal Growth Factor Receptor Rechallenge Therapy for Refractory RAS Wild-Type Metastatic Colorectal Cancer: A Phase 2 Randomized Clinical Trial.
Napolitano S et al.
Jama Oncology, 2023
FLCN-Driven Functional Adrenal Cortical Carcinoma with High Mitotic Tumor Grade: Extending the Endocrine Manifestations of Birt-Hogg-Dubé Syndrome.
Hofstedter R et al.
Endocrine Pathology, 2023
Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma.
Feng H et al.
Translational Andrology and Urology, 2023
Development and validation of a mutation-based model to predict immunotherapeutic efficacy in NSCLC.
He P et al.
Frontiers in Oncology, 2023
Importance of Early Next-Generation Sequencing in Microsatellite Unstable Colon Cancer With a High Tumor Mutation Burden.
Ashish S et al.
Cureus, 2022
Case Report: A BRCA2 Mutation Identified Through Next-Generation Sequencing in a Birt-Hogg-Dubè Syndrome Family.
Bandini E et al.
Frontiers in Oncology, 2022
Clinical utility of comprehensive genomic profiling in Japan: Result of PROFILE-F study.
Aoyagi Y et al.
Plos One, 2022
Concurrent Germline and Somatic Mutations in FLCN and Preliminary Exploration of Its Function: A Case Report.
Wang T et al.
Frontiers in Oncology, 2022
Mono- and biallelic germline variants of DNA glycosylase genes in colon adenomatous polyposis families from two continents.
Olkinuora AP et al.
Frontiers in Oncology, 2022
Assessment of Risk of Hereditary Predisposition in Patients With Melanoma and/or Mesothelioma and Renal Neoplasia.
Gupta S et al.
Jama Network Open, 2021
VENUS, a Novel Selection Approach to Improve the Accuracy of Neoantigens' Prediction.
Leoni G et al.
Vaccines, 2021
Circulating Cell-Free DNA Combined to Magnetic Resonance Imaging for Early Detection of HCC in Patients with Liver Cirrhosis.
Alunni-Fabbroni M et al.
Cancers, 2021
Precision Oncology in Metastatic Uterine Cancer; Croatian First-Year Experience of the Comprehensive Genomic Profiling in Everyday Clinical Practice.
Čerina D et al.
Pathology Oncology Research : Por, 2021
Genomic landscape of platinum resistant and sensitive testicular cancers.
Loveday C et al.
Nature Communications, 2020
Stage IV Colorectal Cancer Patients with High Risk Mutation Profiles Survived 16 Months Longer with Individualized Therapies.
Hendricks A et al.
Cancers, 2020
Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.
von Loga K et al.
Nature Communications, 2020
Genomic Characterization of Testicular Germ Cell Tumors Relapsing After Chemotherapy.
Necchi A et al.
European Urology Focus, 2020
Characterization of Clinical Cases of Malignant PEComa via Comprehensive Genomic Profiling of DNA and RNA.
Akumalla S et al.
Oncology, 2020
Truncated PPM1D impairs stem cell response to genotoxic stress and promotes growth of APC-deficient tumors in the mouse colon.
Burocziova M et al.
Cell Death & Disease, 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
BRCA2, EGFR, and NTRK mutations in mismatch repair-deficient colorectal cancers with MSH2 or MLH1 mutations.
Deihimi S et al.
Oncotarget, 2017
A knowledge-based framework for the discovery of cancer-predisposing variants using large-scale sequencing breast cancer data.
Melloni GEM et al.
Breast Cancer Research : Bcr, 2017
Comparative sequencing analysis reveals high genomic concordance between matched primary and metastatic colorectal cancer lesions.
Brannon AR et al.
Genome Biology, 2014
Syndrome of Birt-Hogg-Dubé, a histopathological pitfall with similarities to tuberous sclerosis: a report of three cases.
Spring P et al.
The American Journal of Dermatopathology, 2013
Birt-Hogg-Dubé syndrome: clinical and genetic studies of 10 French families.
Kluger N et al.
The British Journal of Dermatology, 2010