Massive genome havoc in breast cancer is revealed
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IMAGE: Long-read sequencing enabled the team to reconstruct in great detail the history of how the HER2 gene gets massively amplified in HER2-positive breast cancer cells, says Dr. Schatz. Top rectangle… view more 

Credit: Schatz Lab, CSHL/JHU

Cold Spring Harbor, NY – In cancer cells, genetic errors wreak havoc. Misspelled genes, as well as structural variations — larger-scale rearrangements of DNA that can encompass large chunks of chromosomes — disturb carefully balanced mechanisms that have evolved to regulate cell growth. Genes that are normally silent are massively activated and mutant proteins are formed. These and other disruptions cause a plethora of problems that cause cells to grow without restraint, cancer’s most infamous hallmark.

This week, scientists at Cold Spring Harbor Laboratory (CSHL) have published in Genome Research one of the most detailed maps ever made of structural variations in a cancer cell’s genome. The map reveals about 20,000 structural variations, few of which have ever been noted due to technological limitations in a long-popular method of genome sequencing.

The team, led by sequencing experts Michael C. Schatz and W. Richard McCombie, read genomes of the cancer cells with so-called long-read sequencing technology. This technology reads much lengthier segments of

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