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Chromothripsis in cancer.
Nat Rev Cancer
November 2024
Group Genome Instability in Tumors, German Cancer Research Center, Heidelberg, Germany.
Chromothripsis is a mutational phenomenon in which a single catastrophic event generates extensive rearrangements of one or a few chromosomes. This extreme form of genome instability has been detected in 30-50% of cancers. Studies conducted in the past few years have uncovered insights into how chromothripsis arises and deciphered some of the cellular and molecular consequences of chromosome shattering.
View Article and Find Full Text PDFChromothripsis-Mediated Small Cell Lung Carcinoma.
Cancer Discov
January 2025
Department of Medicine, Memorial Sloan Kettering Cancer Center, New York, New York.
Small cell lung carcinoma (SCLC) is a highly aggressive malignancy that is typically associated with tobacco exposure and inactivation of RB1 and TP53 genes. Here, we performed detailed clinicopathologic, genomic, and transcriptomic profiling of an atypical subset of SCLC that lacked RB1 and TP53 co-inactivation and arose in never/light smokers. We found that most cases were associated with chromothripsis-massive, localized chromosome shattering-recurrently involving chromosome 11 or 12 and resulting in extrachromosomal amplification of CCND1 or co-amplification of CCND2/CDK4/MDM2, respectively.
View Article and Find Full Text PDFArticle Synopsis
- Multiple myeloma (MM) is a complex blood cancer characterized by the expansion of abnormal plasma cells in the bone marrow, resulting in symptoms like bone damage, low blood cell counts, and kidney issues.
- Despite improved treatments, the disease often relapses, and its development is linked to genomic instability, particularly a phenomenon called chromothripsis, which causes major chromosome shattering and rearrangement.
- This review aims to summarize key chromosomal abnormalities in MM, with an emphasis on how chromothripsis contributes to the disease's complexity and opens up potential avenues for better diagnostics and understanding of its underlying mechanisms.
The Fanconi anemia pathway induces chromothripsis and ecDNA-driven cancer drug resistance.
Cell
October 2024
Department of Pathology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Department of Cell Biology, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA; Harold C. Simmons Comprehensive Cancer Center, University of Texas Southwestern Medical Center, Dallas, TX 75390, USA. Electronic address:
Chromothripsis describes the catastrophic shattering of mis-segregated chromosomes trapped within micronuclei. Although micronuclei accumulate DNA double-strand breaks and replication defects throughout interphase, how chromosomes undergo shattering remains unresolved. Using CRISPR-Cas9 screens, we identify a non-canonical role of the Fanconi anemia (FA) pathway as a driver of chromothripsis.
View Article and Find Full Text PDFConstitutional Chromothripsis on Chromosome 2: A Rare Case with Severe Presentation.
Case Rep Genet
January 2024
Genetics and Metabolism Program, Shared Health, Winnipeg, MB, Canada.
Chromothripsis is characterized by shattering and subsequent reassembly of chromosomes by DNA repair processes, which can give rise to a variety of congenital abnormalities and cancer. Constitutional chromothripsis is a rare occurrence, reported in children presenting with a wide range of birth defects. We present a case of a female child born with multiple major congenital abnormalities including severe microcephaly, ocular dysgenesis, heart defect, and imperforate anus.
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