Cargando…

Concurrent Germline and Somatic Mutations in FLCN and Preliminary Exploration of Its Function: A Case Report

Birt–Hogg–Dube syndrome is an autosomal dominant condition that arises from germline folliculin (FLCN) mutations. It is characterized by skin fibrofolliculomas, lung cysts, pneumothorax, and renal cancer. Here, we present the case of a 36-year-old woman with asymptomatic, multiple renal tumors and a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Wang, Tao, Yang, Yang, Feng, Huayi, Cui, Bo, Lv, Zheng, Zhao, Wenlei, Zhang, Xiangyi, Ma, Xin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Frontiers Media S.A. 2022
Materias:	Oncology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9162506/ https://www.ncbi.nlm.nih.gov/pubmed/35664771 http://dx.doi.org/10.3389/fonc.2022.877470

Ejemplares similares

SAT179 Germline And Somatic Inactivating FLCN Variants In Parathyroid Cancer and Atypical Parathyroid Tumors
por: Jha, Smita, et al.
Publicado: (2023)

Novel germline mutations in FLCN gene identified in two Chinese patients with Birt–Hogg–Dubé syndrome
por: Li, Teng, et al.
Publicado: (2017)

Survival of Patients With UrAC and Primary BAC and Urothelial Carcinoma With Glandular Differentiation
por: Wang, Tao, et al.
Publicado: (2022)

Case Report of Birt–Hogg–Dubé Syndrome: Germline Mutations of FLCN Detected in Patients With Renal Cancer and Thyroid Cancer
por: Dong, Li, et al.
Publicado: (2016)

Germline and somatic drivers in inherited hematologic malignancies
por: Zoller, Julian, et al.
Publicado: (2023)

Somatic and germline aberrations in homologous recombination repair genes in Chinese prostate cancer patients
por: Liu, Yixiao, et al.
Publicado: (2023)

Germline and Somatic BRCA1/2 Mutations in 172 Chinese Women With Epithelial Ovarian Cancer
por: You, Yan, et al.
Publicado: (2020)

Characterization of somatic mutations of colorectal tumor in a patient with concurrent APC and MLH1 germline mutations
por: Cheng, Yunsheng, et al.
Publicado: (2023)

Case Report: A Pancreatic Ductal Adenocarcinoma Patient With Concurrent Targetable Somatic Novel KANK1-ALK, UPP2-NTRK3 Fusion, and Pathogenetic Germline BRCA Mutation
por: Meng, Fan, et al.
Publicado: (2021)

An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes
por: Schwartz, Alison, et al.
Publicado: (2022)

A Novel Germline SDHA Gene Mutation and Co-Occurring Somatic KIT Activating Mutation in a Patient With Pediatric Central Nervous System Germ Cell Tumor: Case Report
por: Yue, Xizan, et al.
Publicado: (2022)

Comprehensive germline and somatic genomic profiles of Chinese patients with biliary tract cancer
por: Yu, Haipeng, et al.
Publicado: (2022)

Case report: Germline RECQL mutation potentially involved in hereditary predisposition to acute leukemia
por: Yuan, Wei, et al.
Publicado: (2023)

NFB-06. TREATMENT CHALLENGES IN PEDIATRIC GLIOBLASTOMA MULTIFORME WITH CONCURRENT SOMATIC AND GERMLINE NF1 MUTATIONS WITH GERMLINE MISMATCH REPAIR MUTATIONS: TWO UNIQUE CASES
por: Baig, Muhammed, et al.
Publicado: (2020)

Germline and somatic variants in ovarian carcinoma: A next-generation sequencing (NGS) analysis
por: Andrikopoulou, Angeliki, et al.
Publicado: (2022)

Prevalence of germline mutations in cancer susceptibility genes in Chinese patients with renal cell carcinoma
por: Feng, Huayi, et al.
Publicado: (2023)

Combined germline pathogenic variants in FLCN and TP53 are associated with early onset renal cell carcinoma and brain tumors
por: van de Beek, Irma, et al.
Publicado: (2022)

Birt-Hogg-Dubé syndrome in two Chinese families with mutations in the FLCN gene
por: Hou, Xiaocan, et al.
Publicado: (2018)

A novel FLCN mutation in family members diagnosed with primary spontaneous pneumothorax
por: Genc Yavuz, Burcu, et al.
Publicado: (2019)

Joint genotype inference with germline and somatic mutations
por: Bareke, Eric, et al.
Publicado: (2013)

Analysis of BRCA Germline Mutations in Chinese Prostate Cancer Patients
por: Chen, Wei, et al.
Publicado: (2022)

Case Report: Lung adenocarcinoma associated with germline ERCC2 frameshift mutation
por: Liu, Lili, et al.
Publicado: (2023)

Profiling Oncogenic Germline Mutations in Unselected Chinese Lung Cancer Patients
por: Yang, Jie, et al.
Publicado: (2021)

Germline Mutation Landscape and Associated Clinical Characteristics in Chinese Patients With Renal Cell Carcinoma
por: Kong, Wen, et al.
Publicado: (2021)

Are lung cysts in renal cell cancer (RCC) patients an indication for FLCN mutation analysis?
por: Johannesma, Paul C., et al.
Publicado: (2015)

Evidence of somatic hypermutation in the antigen binding sites of patients with CLL harboring IGHV genes with 100% germline identity
por: Sofou, Electra, et al.
Publicado: (2022)

Germline Mutations in Patients With Early-Onset Prostate Cancer
por: Tang, Tang, et al.
Publicado: (2022)

Germline and somatic mtDNA mutations in mouse aging
por: Ma, Hong, et al.
Publicado: (2018)

RASopathies: From germline mutations to somatic and multigenic diseases
por: Riller, Quentin, et al.
Publicado: (2021)

Germline and Somatic mutations in postmenopausal breast cancer patients
por: Nagy, Tauana Rodrigues, et al.
Publicado: (2021)

Association of Body Mass Index With Somatic Mutations in Breast Cancer
por: Chen, Bo, et al.
Publicado: (2021)

Blood and lymphatic systems are segregated by the FLCN tumor suppressor
por: Tai-Nagara, Ikue, et al.
Publicado: (2020)

The frequency of somatic mutations in cancer predicts the phenotypic relevance of germline mutations
por: Draetta, Edoardo Luigi, et al.
Publicado: (2023)

Germline Mutational Landscape in Chinese Patients With Advanced Breast Cancer
por: Zhang, Jiayang, et al.
Publicado: (2022)

Overview on population screening for carriers with germline BRCA mutation in China
por: Lei, Huijun, et al.
Publicado: (2022)

Identification of Germline Mutations in Upper Tract Urothelial Carcinoma With Suspected Lynch Syndrome
por: Guan, Bao, et al.
Publicado: (2022)

FLCN Maintains the Leucine Level in Lysosome to Stimulate mTORC1
por: Wu, Xiaochun, et al.
Publicado: (2016)

Characterization of a splice-site mutation in the tumor suppressor gene FLCN associated with renal cancer
por: Bartram, Malte P., et al.
Publicado: (2017)

Genetic insight into Birt–Hogg–Dubé syndrome in Indian patients reveals novel mutations at FLCN
por: Ray, Anindita, et al.
Publicado: (2022)

Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer
por: Tesch, Megan E., et al.
Publicado: (2020)

Cannot write session to /tmp/vufind_sessions/sess_0ibps2in12perfjlk3abhpbreh