Dubai, United Arab Emirates \u2014\u00a0Some of the most harmful genetic changes in cancer are also the hardest to see. These structural alterations, deep within a tumor’s DNA, can fuel aggressive growth and evade standard testing, especially when tissue samples are small or degraded. To address this challenge, Mayo Clinic researchers have developed a new tool that illuminates these elusive genomic patterns.<\/p>\n
The tool, called BACDAC, helps researchers identify signs of genomic instability using DNA sequencing that reads the entire genome, even in low-purity or low-coverage samples. It could help clinicians better predict how a tumor will behave and guide more personalized treatment choices.<\/p>\n
At the core of BACDAC’s approach is the concept of ploidy, which refers to the number of complete sets of chromosomes in a cell. While normal human cells have two sets (46 chromosomes total), cancer cells often show large-scale gains or losses, disrupting this balance and enabling unchecked growth.<\/p>\n
In a study published in Genome Biology, the research team used BACDAC to analyze more than 650 tumors across 12 cancer types. The tool helped researchers detect signs of whole-genome doubling, where a tumor duplicates all of its DNA. This type of abnormal ploidy is often linked to aggressive behavior and treatment resistance.<\/p>\n
“This tool lets us see a layer of the genome that’s been invisible until now,” says George Vasmatzis, Ph.D., a lead author of the study and co-director of Mayo Clinic’s Biomarker Discovery Program. “We’ve spent decades studying the biology of genomic instability. This is the first time we’ve been able to translate that knowledge into a tool that works at scale.”<\/p>\n
BACDAC also provides a visual summary of a tumor’s genomic landscape. A custom output called the Constellation Plot offers an intuitive view of whether the tumor’s chromosomes are stable or disrupted. This may help researchers and pathologists interpret results more easily.<\/p>\n
Next, the Mayo Clinic team plans to further validate BACDAC and develop it into a clinically deployable diagnostic tool. It may help inform treatment decisions by providing a clearer view of a tumor\u2019s structural changes.<\/p>\n
The study was supported in part by the Mayo Clinic Center for Individualized Medicine and the Mayo Clinic Center for Digital Health. For a complete list of authors, disclosures and funding,\u00a0review the study.<\/p>\n","protected":false},"excerpt":{"rendered":"Dubai, United Arab Emirates \u2014\u00a0Some of the most harmful genetic changes in cancer are also the hardest to…\n","protected":false},"author":2,"featured_media":229242,"comment_status":"","ping_status":"","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[25],"tags":[49,48,316,392,66],"class_list":{"0":"post-229241","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-genetics","8":"tag-ca","9":"tag-canada","10":"tag-genetics","11":"tag-healthcare","12":"tag-science"},"_links":{"self":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts\/229241","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/comments?post=229241"}],"version-history":[{"count":0,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/posts\/229241\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/media\/229242"}],"wp:attachment":[{"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/media?parent=229241"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/categories?post=229241"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.newsbeep.com\/ca\/wp-json\/wp\/v2\/tags?post=229241"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}