Associated Papers
FLCN-mutated eosinophilic renal tumors: clinicopathologic and molecular analysis of five cases highlighting morphologic heterogeneity.
Zhao M et al.
Virchows Archiv : an International Journal of Pathology, 2026
Risk of malignant melanoma and colorectal cancer in Birt-Hogg-Dubé syndrome - a matched cohort study.
Skarin Nordenvall A et al.
British Journal of Cancer, 2026
Clinical and genetic features of multiple primary tumours cohorts with a renal cell carcinoma: Implications for molecular genetic investigations.
Zhang H et al.
International Journal of Cancer, 2025
Pathogenic Germline Variant Prevalence and Genetic Testing Outcomes in Patients With Urothelial Carcinoma.
Oh E et al.
Clinical Genitourinary Cancer, 2025
GPNMB Expression Identifies FLCN -Associated Eosinophilic Renal Tumors With Heterogeneous Clinicopathologic Spectrum and Gene Expression Profiles.
Xia QY et al.
The American Journal of Surgical Pathology, 2025
Distinct genomic subgroups and mutational patterns in undifferentiated/dedifferentiated endometrial carcinoma.
Huang CY et al.
Bmc Cancer, 2025
Germline Mutations in Renal Neoplasms and Their Clinicopathological Correlations.
Chen M et al.
International Journal of Surgical Pathology, 2025
Germline Cancer Susceptibility Variants in Patients With Uveal Melanoma.
Repo PE et al.
Pigment Cell & Melanoma Research, 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
Recurrent Spontaneous Pneumothorax as a Manifestation of the Birt-Hogg-Dubé Syndrome: A Case Report.
Fatah FH et al.
Cureus, 2025
Unveiling the Genetic Puzzle: Asymmetric Hypertrophy in a Heart Transplant Recipient Linked to Birt-Hogg-Dubé Syndrome.
Furquim SR et al.
Arquivos Brasileiros De Cardiologia, 2025
Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.
Yuen J et al.
European Journal of Human Genetics : Ejhg, 2025
Prevalence of Individuals With Multiple Diagnosed Genetic Diseases in the Undiagnosed Diseases Network.
Gimeno AF et al.
American Journal of Medical Genetics. Part A, 2025
Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.
Park C et al.
Esmo Open, 2025
Integrating next-generation sequencing and artificial intelligence for the identification and validation of pathogenic variants in colorectal cancer.
Rodriguez-Salamanca J et al.
Frontiers in Oncology, 2025
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.
Wang S et al.
Journal of Cellular and Molecular Medicine, 2024
Genomic characterization and immunotherapy for microsatellite instability-high in cholangiocarcinoma.
Yang X et al.
Bmc Medicine, 2024
Oncogenic activation revealed by FGFR2 genetic alterations in intrahepatic cholangiocarcinomas.
Pu X et al.
Cell & Bioscience, 2023
Adrenal Cortical Carcinoma and Additional Rare Pathologic Findings in Multi-Organs in a Birt-Hogg-Dubé Syndrome Patient: With an Emphasis on the Molecular Characteristics of Adrenal Cortical Carcinoma.
Kim D et al.
International Journal of Surgical Pathology, 2023
Outstanding Characteristics of Birt-Hogg-Dube Syndrome in Korea.
Park HJ et al.
Diagnostics (basel, Switzerland), 2023
Mutational profiling of Chinese patients with thyroid cancer.
Du Y et al.
Frontiers in Endocrinology, 2023
Clinical and genetic characteristics in lymphoma patients with a second solid malignancy.
Zhou D et al.
Frontiers in Oncology, 2023
Molecular landscape and therapeutic alterations in Asian soft-tissue sarcoma patients.
Gan M et al.
Cancer Medicine, 2022
Phenotypic plasticity and genetic control in colorectal cancer evolution.
Househam J et al.
Nature, 2022
Percutaneous Thermal Ablation for Renal Tumors in Patients with Birt-Hogg-Dubé Syndrome.
Bodard S et al.
Cancers, 2022
Severe Cholestatic Jaundice (Stauffer Syndrome) as a Rare Paraneoplastic Manifestation in Adrenocortical Carcinoma.
Murvelashvili N et al.
Journal of the Endocrine Society, 2022
Genetic insight into Birt-Hogg-Dubé syndrome in Indian patients reveals novel mutations at FLCN.
Ray A et al.
Orphanet Journal of Rare Diseases, 2022
Clinical and genomic features of Chinese lung cancer patients with germline mutations.
Peng W et al.
Nature Communications, 2022
The genetic landscape of pancreatic head ductal adenocarcinoma in China and prognosis stratification.
Yang Y et al.
Bmc Cancer, 2022
Birt-Hogg-Dubé Syndrome: Diagnostic Journey of Three Cases from Skin to Gene.
Hasal E et al.
Annals of Dermatology, 2022
Birt-Hogg-Dubé syndrome: case report and brief review of the literature.
Lakhani DA et al.
Radiology Case Reports, 2022
A retrospective two centre study of Birt-Hogg-Dubé syndrome reveals a pathogenic founder mutation in FLCN in the Swedish population.
Lagerstedt-Robinson K et al.
Plos One, 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
Comprehensive genomic profiling of colorectal cancer patients reveals differences in mutational landscapes among clinical and pathological subgroups.
Li P et al.
Frontiers in Oncology, 2022
An EGFR L858R mutation identified in 1862 Chinese NSCLC patients can be a promising neoantigen vaccine therapeutic strategy.
Lin J et al.
Frontiers in Immunology, 2022
Next-Generation Sequencing in the Diagnosis of Metastatic Lesions: Reclassification of a Glioblastoma as an Endometrial Cancer Metastasis to the Brain.
Leung SOA et al.
The Oncologist, 2021
A Case of Microsatellite Instability-High Colon Cancer in a Young Woman With Familial Adenomatous Polyposis.
Blum SM et al.
Journal of the National Comprehensive Cancer Network : Jnccn, 2021
A rare occurrence of a hereditary Birt-Hogg-Dubé syndrome: A case report.
Lu YR et al.
World Journal of Clinical Cases, 2021
Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.
Moukarzel LA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
Distinct genomic profile in h. pylori-associated gastric cancer.
Zhang X et al.
Cancer Medicine, 2021
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
Folliculin variants linked to Birt-Hogg-Dubé syndrome are targeted for proteasomal degradation.
Clausen L et al.
Plos Genetics, 2020
Mutational landscape and genetic signatures of cell-free DNA in tumour-induced osteomalacia.
Wu N et al.
Journal of Cellular and Molecular Medicine, 2020
Genotypic characteristics of Chinese patients with BHD syndrome and functional analysis of FLCN variants.
Liu K et al.
Orphanet Journal of Rare Diseases, 2019
Facial papules and lung cysts: a case of Birt-Hogg-Dubé syndrome.
Griffiths P et al.
Bmj Case Reports, 2019
Clinical utility of custom-designed NGS panel testing in pediatric tumors.
Surrey LF et al.
Genome Medicine, 2019
Loss-of-function mutations in ATP6AP1 and ATP6AP2 in granular cell tumors.
Pareja F et al.
Nature Communications, 2018