Cargando…

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome

PURPOSE: Whereas most human genes encode multiple mRNA isoforms with distinct function, clinical workflows for assessing this heterogeneity are not readily available. This is a substantial shortcoming, considering that up to 25% of disease-causing gene variants are suspected of disrupting mRNA splic...

Descripción completa

Detalles Bibliográficos
Autores principales:	Schwenk, Vincent, Leal Silva, Rafaela Magalhaes, Scharf, Florentine, Knaust, Katharina, Wendlandt, Martin, Häusser, Tanja, Pickl, Julia M A, Steinke-Lange, Verena, Laner, Andreas, Morak, Monika, Holinski-Feder, Elke, Wolf, Dieter A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2023
Materias:	Cancer Genetics
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10423559/ https://www.ncbi.nlm.nih.gov/pubmed/36593122 http://dx.doi.org/10.1136/jmg-2022-108931

Ejemplares similares

Disease-causing gene-flanking genomic rearrangements in HNPCC patients
por: Morak, Monika, et al.
Publicado: (2011)

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer
por: Scharf, Florentine, et al.
Publicado: (2022)

Lynch syndrome (HNPCC)
por: Kładny, Józef, et al.
Publicado: (2008)

Highly sensitive liquid biopsy Duplex sequencing complements tissue biopsy to enhance detection of clinically relevant genetic variants
por: Hallermayr, Ariane, et al.
Publicado: (2022)

Lynch Syndrome (HNPCC) and Microsatellite Instability
por: Umar, Asad
Publicado: (2004)

HNPCC (Lynch Syndrome): Differential Diagnosis, Molecular Genetics and Management - a Review
por: Lynch, Henry T, et al.
Publicado: (2003)

Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study
por: Bucksch, Karolin, et al.
Publicado: (2020)

Critical assessment of secondary findings in genes linked to primary arrhythmia syndromes
por: Diebold, Isabel, et al.
Publicado: (2020)

Somatic copy number alteration and fragmentation analysis in circulating tumor DNA for cancer screening and treatment monitoring in colorectal cancer patients
por: Hallermayr, Ariane, et al.
Publicado: (2022)

Revised guidelines for the clinical management of Lynch syndrome (HNPCC): recommendations by a group of European experts
por: Vasen, Hans F A, et al.
Publicado: (2013)

Clinical Validity of Circulating Tumor DNA as Prognostic and Predictive Marker for Personalized Colorectal Cancer Patient Management
por: Hallermayr, Ariane, et al.
Publicado: (2022)

HPO-driven virtual gene panel: a new efficient approach in molecular autopsy of sudden unexplained death
por: Schön, Ulrike, et al.
Publicado: (2021)

Lynch syndrome or hereditary non polyposis colorectal cancer (HNPCC) in a moroccan family: Case report
por: Outtaleb, F.Z., et al.
Publicado: (2021)

Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database
por: Peltomäki, Päivi, et al.
Publicado: (2004)

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group
por: Morak, Monika, et al.
Publicado: (2022)

Diagnostic yield and clinical relevance of expanded germline genetic testing for nearly 7000 suspected HBOC patients
por: Henkel, Jan, et al.
Publicado: (2023)

Overview of the Clinical Features of Li-Fraumeni Syndrome and the Current European ERN GENTURIS Guideline
por: Kratz, Christian Peter, et al.
Publicado: (2021)

Mitochondrial and nuclear disease panel (Mito‐aND‐Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost‐effective and sensitive NGS‐based method
por: Abicht, Angela, et al.
Publicado: (2018)

HNPCC: Six new pathogenic mutations
por: Kunstmann, Erdmute, et al.
Publicado: (2004)

Nuclear Pedigree Criteria of Suspected HNPCC
por: Kładny, Józef, et al.
Publicado: (2003)

Impact of cfDNA Reference Materials on Clinical Performance of Liquid Biopsy NGS Assays
por: Hallermayr, Ariane, et al.
Publicado: (2023)

Continuing difficulties in interpreting CNV data: lessons from a genome-wide CNV association study of Australian HNPCC/lynch syndrome patients
por: Talseth-Palmer, Bente A, et al.
Publicado: (2013)

Deletion Mutations in an Australian Series of HNPCC Patients
por: McPhillips, Mary, et al.
Publicado: (2005)

Ultradeep analysis of tumor heterogeneity in regions of somatic hypermutation
por: Spence, Janice M, et al.
Publicado: (2015)

Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report
por: Dominguez-Valentin, Mev, et al.
Publicado: (2019)

Identification of HNPCC by Molecular Analysis of Colorectal and Endometrial Tumors
por: Vasen, H. F. A., et al.
Publicado: (2004)

Management of ovarian and endometrial cancers in women belonging to HNPCC carrier families: review of the literature and results of cancer risk assessment in Polish HNPCC families
por: Dębniak, Tadeusz, et al.
Publicado: (2015)

Cancer incidence and survival in Lynch syndrome patients receiving colonoscopic and gynaecological surveillance: first report from the prospective Lynch syndrome database
por: Møller, Pål, et al.
Publicado: (2017)

Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database
por: Dominguez-Valentin, Mev, et al.
Publicado: (2020)

Gene expression signatures for colorectal cancer microsatellite status and HNPCC
por: Kruhøffer, M, et al.
Publicado: (2005)

Retrospective analysis of patients with hereditary nonpolyposis colorectal cancer (HNPCC)
por: Zbigniew, Banaszkiewicz, et al.
Publicado: (2015)

MSI-Testing in Hereditary Non-Polyposis Colorectal Carcinoma (HNPCC)
por: Müller, Annegret, et al.
Publicado: (2004)

Lack of association between screening interval and cancer stage in Lynch syndrome may be accounted for by over-diagnosis; a prospective Lynch syndrome database report
por: Seppälä, Toni T., et al.
Publicado: (2019)

Extending the critical regions for mutations in the non‐coding gene RNU4ATAC in another patient with Roifman Syndrome
por: Hallermayr, Ariane, et al.
Publicado: (2018)

Ultradeep Pyrosequencing of Hepatitis C Virus Hypervariable Region 1 in Quasispecies Analysis
por: Caraballo Cortés, Kamila, et al.
Publicado: (2013)

Research and Application of Segmented Acid Fracturing by Temporary Plugging in Ultradeep Carbonate Reservoirs
por: Wang, Yang, et al.
Publicado: (2021)

Investigation on the role of nsSNPs in HNPCC genes – a bioinformatics approach
por: Doss, C George Priya, et al.
Publicado: (2009)

Clinicopathological and genetic features of Chinese hereditary nonpolyposis colorectal cancer (HNPCC)
por: Liu, Fangqi, et al.
Publicado: (2014)

Ultradeep Sequencing of a Human Ultraconserved Region Reveals Somatic and Constitutional Genomic Instability
por: De Grassi, Anna, et al.
Publicado: (2010)

Cross-platform ultradeep transcriptomic profiling of human reference RNA samples by RNA-Seq
por: Xu, Joshua, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_s0tsr4141u5p8qmv6obr23vmk4