New Map of Cancer Cell’s Genome Shows 1000s of Previously Missed Variations

New Map of Cancer Cell’s Genome Shows 1000s of Previously Missed Variations
Improved sequencing methods have allowed researchers to build one of the most detailed maps of structural variations in a breast cancer cell's genome, identifying some 20,000 variations in a cell type linked to an aggressive form of the disease. The information could shed new light on the complex mechanisms involved in the evolution of genomes — an organism’s complete set of DNA, including all of its genes. The findings were reported in "Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line," published in June in Genome Research. Genome instability is one of the hallmarks of cancer. Cancer cells within a tumor undergo a plethora of genetic alterations – from DNA rearrangements that can affect large portions of chromosomes to single mutations in a gene – that disturb the mechanisms controlling cell growth. This accumulation of genome modifications lets cancer cells bypass checkpoint mechanisms and multiply unchecked. The SK-BR-3 cell line is among the most important laboratory models for HER2-positive breast cancer – one of the most aggressive types, caused by mutations in the HER2 (also known as ERBB2) gene – which affects 20 percent of breast cancer patients. These cancer cells undergo major genetic modifications, especially in repetitive regions of their genome. A team of researchers led by sequencing ex
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