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名詞

chromothripsis (uncountable)

1. (genetics, pathology) A multiple of chromosomal rearrangements that is associated with some cancers.
   • 2012, Lauren Pecorino, Molecular Biology of Cancer: Mechanisms, Targets, and Therapeutics‎^[1], page 24:

     But for 2—3% of cancers, particularly bone cancer (up to 25%), recent evidence suggests that a single event of chromothripsis involving one or a few chromosomes leads to multiple gene rearrangements (in some cases tens to hundreds) that can disrupt tumor suppressor genes and/or produce oncogenic fusion genes.

   • 2014, Asfar Azmi, Molecular Diagnostics and Treatment of Pancreatic Cancer‎^[2], page 113:

     Another new phenomenon described by Stephens et al.[86] is called “chromothripsis”. Chromothripsis describes a massive genomic rearrangement in one or more chromosomes in a single catastrophic event during the cells' history,

   • 2015, Anders M. Lindroth, Yoon Jung Park, Christoph Plass, Epigenetic Reprogramming in Cancer, Alexander Meissner, Jörn Walter (editors), Epigenetic Mechanisms in Cellular Reprogramming, Springer, page 206,

     Some of the characteristics of chromothripsis are oscillating copy number changes, clustering of breakpoints, localized rearrangements involving one or a part of a chromosome, and complex rearrangements.

関連する語

• chromothriptic