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Jul 5, 2024, 14:17

Whijae Roh: The history of chromosomal instability in genome doubled tumors

Whijae Roh, Senior Computational Biologist at Pfizer, shared a post by Elizabeth McKenna, on X:

“The history of chromosomal instability in genome doubled tumors

‘Here, we describe GRITIC, a generic method for timing genomic gains leading to complex copy number states, using single-sample bulk whole-genome sequencing data. By applying GRITIC to 6,091 tumors, we found that non-parsimonious evolution is frequent in the formation of complex copy number states in genome-doubled tumors.

We measured chromosomal instability before and after genome duplication in human tumors and found that late genome doubling was followed by an increase in the rate of copy number gain.

Copy number gains often accumulate as punctuated bursts, commonly after genome doubling. In summary, GRITIC is a novel copy number gain timing framework that permits the analysis of copy number evolution in chromosomally unstable tumors.'”

Quoting Elizabeth McKenna‘s post:

“Now online in Cancer Discovery: The History of Chromosomal Instability in Genome Doubled Tumors – by Toby Baker, Maxime Tarabichi, Peter Van Loo and colleagues.”

Elizabeth McKenna

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Source: Whijae Roh/X and Elizabeth McKenna/X

Elizabeth McKenna is the Executive Director of Cancer Discovery at the American Association for Cancer Research. Elizabeth earned her PhD from Harvard University and trained with Dr. Charles Roberts at the Dana-Farber Cancer Institute. Her research was among the first to show that pediatric tumors characterized by mutations in chromatin remodelers are genomically stable and instead driven by epigenetic deregulation of key target genes. She joined Cancer Discovery shortly after its launch as its founding Science Writer and became an editor in 2014, rising through the editorial ranks to become the journal’s Executive Editor in 2019. She is a member of the 40 Under 40 in Cancer Class of 2021.