Cargando…

Constitutional chromothripsis of the APC locus as a cause of genetic predisposition to colon cancer

PURPOSE: Approximately 20% of patients with clinical familial adenomatous polyposis (FAP) remain unsolved after molecular genetic analysis of the APC and other polyposis genes, suggesting additional pathomechanisms. METHODS: We applied multidimensional genomic analysis employing chromosomal microarr...

Descripción completa

Detalles Bibliográficos
Autores principales:	Scharf, Florentine, Leal Silva, Rafaela Magalhaes, Morak, Monika, Hastie, Alex, Pickl, Julia M A, Sendelbach, Kai, Gebhard, Christian, Locher, Melanie, Laner, Andreas, Steinke-Lange, Verena, Koehler, Udo, Holinski-Feder, Elke, Wolf, Dieter A
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2022
Materias:	Chromosomal Rearrangements
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9554066/ https://www.ncbi.nlm.nih.gov/pubmed/34911816 http://dx.doi.org/10.1136/jmedgenet-2021-108147

Ejemplares similares

A novel immunodeficiency syndrome associated with partial trisomy 19p13
por: Seidel, Markus G, et al.
Publicado: (2014)

Clinical significance of copy number variations in the 11p15.5 imprinting control regions: new cases and review of the literature
por: Begemann, Matthias, et al.
Publicado: (2012)

Next generation sequencing of chromosomal rearrangements in patients with split-hand/split-foot malformation provides evidence for DYNC1I1 exonic enhancers of DLX5/6 expression in humans
por: Lango Allen, Hana, et al.
Publicado: (2014)

Breakpoint mapping by whole genome sequencing identifies PTH2R gene disruption in a patient with midline craniosynostosis and a de novo balanced chromosomal rearrangement
por: Kim, Juwon, et al.
Publicado: (2015)

Long-read sequencing and haplotype linkage analysis enabled preimplantation genetic testing for patients carrying pathogenic inversions
por: Zhang, Shuo, et al.
Publicado: (2019)

Disruption of the topologically associated domain at Xp21.2 is related to 46, XY gonadal dysgenesis
por: Meinel, Jakob A, et al.
Publicado: (2023)

Transcript capture and ultradeep long-read RNA sequencing (CAPLRseq) to diagnose HNPCC/Lynch syndrome
por: Schwenk, Vincent, et al.
Publicado: (2023)

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

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

Copy number variations and constitutional chromothripsis (Review)
por: Brás, Aldina, et al.
Publicado: (2020)

ETV6 mutations define a new cancer predisposition syndrome
por: Kirkpatrick, Gregory, et al.
Publicado: (2015)

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

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)

Insertional translocation involving an additional nonchromothriptic chromosome in constitutional chromothripsis: Rule or exception?
por: Kurtas, Nehir Edibe, et al.
Publicado: (2018)

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)

Constitutive auxin response in Physcomitrella reveals complex interactions between Aux/IAA and ARF proteins
por: Lavy, Meirav, et al.
Publicado: (2016)

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)

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

Constitutional chromothripsis involving the critical region of 9q21.13 microdeletion syndrome
por: Genesio, Rita, et al.
Publicado: (2015)

The elusive evidence for chromothripsis
por: Kinsella, Marcus, et al.
Publicado: (2014)

Codon choice directs constitutive mRNA levels in trypanosomes
por: de Freitas Nascimento, Janaina, et al.
Publicado: (2018)

Heterozygous APC germline mutations impart predisposition to colorectal cancer
por: Preisler, Livia, et al.
Publicado: (2021)

Chromothripsis and DNA Repair Disorders
por: Nazaryan-Petersen, Lusine, et al.
Publicado: (2020)

Chromothripsis—Explosion in Genetic Science
por: Shorokhova, Mariia, et al.
Publicado: (2021)

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

CHROMOTHRIPSIS FROM DNA DAMAGE IN MICRONUCLEI
por: Zhang, Cheng-Zhong, et al.
Publicado: (2015)

Chromothripsis in Treatment Resistance in Multiple Myeloma
por: Lee, Kyoung Joo, et al.
Publicado: (2017)

Chromosomal rearrangements in uveal melanoma: Chromothripsis
por: van Poppelen, Natasha M., et al.
Publicado: (2018)

On the Complexity of Mechanisms and Consequences of Chromothripsis: An Update
por: Koltsova, Alla S., et al.
Publicado: (2019)

Insight into the Molecular Basis Underlying Chromothripsis
por: Ostapińska, Katarzyna, et al.
Publicado: (2022)

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)

Phosphorylation of TET Proteins Is Regulated via O-GlcNAcylation by the O-Linked N-Acetylglucosamine Transferase (OGT)
por: Bauer, Christina, et al.
Publicado: (2015)

Wnt genes in colonic polyposis predisposition
por: Quintana, Isabel, et al.
Publicado: (2022)

ShatterProof: operational detection and quantification of chromothripsis
por: Govind, Shaylan K, et al.
Publicado: (2014)

The landscape of chromothripsis across adult cancer types
por: Voronina, Natalia, et al.
Publicado: (2020)

Chromothripsis drives the evolution of gene amplification in cancer
por: Shoshani, Ofer, et al.
Publicado: (2020)

Structural and Evolutionary Basis for the Dual Substrate Selectivity of Human KDM4 Histone Demethylase Family
por: Hillringhaus, Lars, et al.
Publicado: (2011)

RB1 gene inactivation by chromothripsis in human retinoblastoma
por: McEvoy, Justina, et al.
Publicado: (2014)

Chromosome-breakage genomic instability and chromothripsis in breast cancer
por: Przybytkowski, Ewa, et al.
Publicado: (2014)

Cannot write session to /tmp/vufind_sessions/sess_lh9kukhlkqon0o4rpa047h14vd