{"id":28138,"date":"2022-06-15T15:00:19","date_gmt":"2022-06-15T15:00:19","guid":{"rendered":"https:\/\/news.cancerresearchuk.org\/?p=24351"},"modified":"2024-11-03T15:13:37","modified_gmt":"2024-11-03T15:13:37","slug":"picking-out-the-patterns-how-scientists-are-finding-cancers-signatures-in-tumour-dna","status":"publish","type":"post","link":"https:\/\/ogkologos.com\/en\/picking-out-the-patterns-how-scientists-are-finding-cancers-signatures-in-tumour-dna\/","title":{"rendered":"Picking out the patterns: How scientists are finding cancer\u2019s signatures in tumour DNA"},"content":{"rendered":"<div class=\"image hero-image\"> <img decoding=\"async\" width=\"620\" height=\"348\" src=\"https:\/\/34p2k13bwwzx12bgy13rwq8p-wpengine.netdna-ssl.com\/wp-content\/uploads\/2022\/06\/Chromosomes.jpg\" class=\"attachment-featuredImage size-featuredImage\" alt=\"A 3D illustration of some chromosomes, with one highlighted in yellow\" loading=\"lazy\" srcset=\"https:\/\/34p2k13bwwzx12bgy13rwq8p-wpengine.netdna-ssl.com\/wp-content\/uploads\/2022\/06\/Chromosomes.jpg 620w, https:\/\/34p2k13bwwzx12bgy13rwq8p-wpengine.netdna-ssl.com\/wp-content\/uploads\/2022\/06\/Chromosomes-300x168.jpg 300w, https:\/\/34p2k13bwwzx12bgy13rwq8p-wpengine.netdna-ssl.com\/wp-content\/uploads\/2022\/06\/Chromosomes-220x123.jpg 220w, https:\/\/34p2k13bwwzx12bgy13rwq8p-wpengine.netdna-ssl.com\/wp-content\/uploads\/2022\/06\/Chromosomes-150x84.jpg 150w\" sizes=\"auto, (max-width: 620px) 100vw, 620px\" data-attachment-id=\"24350\" data-permalink=\"https:\/\/news.cancerresearchuk.org\/chromosomes-2\/\" data-orig-file=\"https:\/\/news.cancerresearchuk.org\/wp-content\/uploads\/2022\/06\/Chromosomes.jpg\" data-orig-size=\"620,348\" data-comments-opened=\"1\" data-image-meta=\"{&quot;aperture&quot;:&quot;0&quot;,&quot;credit&quot;:&quot;&quot;,&quot;camera&quot;:&quot;&quot;,&quot;caption&quot;:&quot;&quot;,&quot;created_timestamp&quot;:&quot;0&quot;,&quot;copyright&quot;:&quot;Copyright (c) 2015 koya979\\\/Shutterstock. No use without permission.&quot;,&quot;focal_length&quot;:&quot;0&quot;,&quot;iso&quot;:&quot;0&quot;,&quot;shutter_speed&quot;:&quot;0&quot;,&quot;title&quot;:&quot;&quot;,&quot;orientation&quot;:&quot;0&quot;}\" data-image-title=\"Chromosomes\" data-image-description data-image-caption data-medium-file=\"https:\/\/news.cancerresearchuk.org\/wp-content\/uploads\/2022\/06\/Chromosomes-300x168.jpg\" data-large-file=\"https:\/\/news.cancerresearchuk.org\/wp-content\/uploads\/2022\/06\/Chromosomes.jpg\"><\/div>\n<p><span data-contrast=\"auto\">Cancers begin when changes in genes called <\/span><a href=\"https:\/\/www.cancerresearchuk.org\/about-cancer\/what-is-cancer\/how-cancer-starts\"><span data-contrast=\"none\">mutations<\/span><\/a><span data-contrast=\"auto\"> cause cells to start multiplying uncontrollably.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">Mutations can be the result of damage to DNA caused by external agents, like <\/span><a href=\"https:\/\/www.cancerresearchuk.org\/about-cancer\/causes-of-cancer\/sun-uv-and-cancer\/how-does-the-sun-and-uv-cause-cancer\"><span data-contrast=\"none\">UV light<\/span><\/a><span data-contrast=\"auto\"> or chemicals in cigarettes, or caused by \u2018mistakes\u2019 when DNA is replicated in cells before they divide.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">Cancer cells can have large numbers of these mutations in their DNA, and often cells within the same tumour are heterogenous, meaning that their DNA differs from cell to cell. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">However, there are certain \u2018types\u2019 of DNA mistake that occur in most cancers. One of these mistakes is called aneuploidy or, more simply, chromosome copy number changes. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">This means that a cell has too many, or too few, chromosomes, coiled structures of DNA that store our genetic code, compared to normal. To give an example, a human cancer cell may have 45 or 47 chromosomes as opposed to the normal 46. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">Chromosome copy number changes can make the genetic code of cancer cells highly complex. Imagine trying to read a book that\u2019s missing entire chapters, or has chapters duplicated and inserted back in the wrong place.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">It results in tumours growing and spreading more quickly, and can result in resistance to treatment, meaning that the prognosis for the patient is poorer. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<h2><b><span data-contrast=\"auto\">Seeing the bigger picture<\/span><\/b><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/h2>\n<p><span data-contrast=\"auto\">Mutations have been studied in cancers for decades and we have been able to identify simple ones using a technique called DNA sequencing to see how the DNA differs from that of normal cells. However, the understanding of complex mutations, like aneuploidy, is still a gap in our knowledge. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"none\">\u201cTo stay one step ahead of cancer, we need to anticipate how it adapts and changes,\u201d says Dr Nischalan Pillay, Associate Professor in Sarcoma Genomics at University College London (UCL).<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"none\">\u201cMutations are the key drivers of cancer, but a lot of our understanding is focused on changes to individual genes in cancer. We\u2019ve lacked the tools to better understand how vast swathes of genes can be copied, moved around or deleted without catastrophic consequences for the tumour, and how these could be used to classify cancer.\u201d<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">Now, an international team of researchers at UCL and the University of California, San Diego (UC San Diego), co-led by Pillay and with funding from <\/span><a href=\"https:\/\/cancergrandchallenges.org\/\"><span data-contrast=\"none\">Cancer Grand Challenges<\/span><\/a><span data-contrast=\"auto\">, are using artificial intelligence to find new ways to identify and classify these complicated genetic changes.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<h2><b><span data-contrast=\"auto\">Finding the patterns<\/span><\/b><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/h2>\n<p><span data-contrast=\"auto\">Using machine learning techniques, the team developed an algorithm to investigate and categorise the size and scale of DNA changes across the genome, a cell\u2019s complete genetic code, when cancer starts and grows. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">This algorithm might sound complex, but it\u2019s not too different from one you might be familiar with. The way it analyses data to find patterns is similar to how the streaming service Netflix uses data on your viewing habits to recommend other films and series to watch.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:160,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">The scientists looked for common patterns in how the chromosomes are reorganised in the tumours of over 9,000 patients with 33 different types of cancer.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">From this massive amount of data, they were able to identify 21 common faults to the structure and number of chromosomes in tumours and categorise them into different \u201cgenres\u201d called copy number signatures. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">These copy number signatures have provided a \u2018blueprint\u2019 of features that are common between cancer types that provides new insight into the complex genomes of cancers. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">Now that these signatures have been identified, there\u2019s the potential to use them as targets for new therapies.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">\u201cCancer is a complex disease, but we\u2019ve demonstrated that there are remarkable similarities in the changes to chromosomes that happen when it starts and how it grows,\u201d says Dr Ludmil Alexandrov, Associate Professor at UC San Diego and co-lead author of the study.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"auto\">\u201cJust as Netflix can predict which shows you\u2019ll choose to binge watch next, we believe that we will be able to predict how your cancer is likely to behave, based on the changes its genome has previously experienced.\u201d<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"none\">The team then further investigated the copy number signatures that most strongly affected outcomes for cancer patients. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"none\">Of the 21 signatures they identified, they found that tumours associated with the worst survival outcomes were ones that had gone through a process called chromothripsis, where the DNA in a chromosome completely shatters and reforms incorrectly.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"none\">For example, they found that people with <\/span><a href=\"https:\/\/www.cancerresearchuk.org\/about-cancer\/brain-tumours\/types\/astrocytoma-glioblastoma-multiforme\"><span data-contrast=\"none\">glioblastoma<\/span><\/a><span data-contrast=\"none\">, an aggressive type of brain tumour, had worse survival outcomes if cells in their tumour had undergone chromothripsis.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<h2><b><span data-contrast=\"auto\">What\u2019s next?<\/span><\/b><span data-contrast=\"none\"> <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335551550&quot;:1,&quot;335551620&quot;:1,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/h2>\n<p><span data-contrast=\"none\">The team hopes that the algorithm can now be refined to enable doctors to find out how a cancer is likely to behave, based on the genetic traits it acquires when it starts and the changes it picks up as it grows. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"none\">And to accelerate progress, they\u2019ve shared the blueprint of signatures they\u2019ve found, and the tools they used to uncover them, freely with the global scientific community. <\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"none\">That way, other scientists can build their own <\/span><span data-contrast=\"auto\">Netflix-style<\/span><span data-contrast=\"none\"> libraries of chromosome changes, based on data obtained from analysing tumours in their own research.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"none\">\u201cWe want to get to the point where doctors can look at a patient\u2019s fully sequenced tumour and match the key features of the tumour against our blueprint for genomic faults,\u201d Alexandrov adds.<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><span data-contrast=\"none\">\u201cArmed with that information, we believe that doctors will be able to offer better and more personalised cancer treatment in the future.\u201d<\/span><span data-ccp-props=\"{&quot;201341983&quot;:0,&quot;335559739&quot;:240,&quot;335559740&quot;:240}\"> <\/span><\/p>\n<p><em>Jacob<\/em><\/p>\n<p><h3 class=\"panel-title\">More on this topic<\/h3>\n<\/p>\n<p><a href=\"https:\/\/news.cancerresearchuk.org\/2022\/06\/15\/picking-out-the-patterns-how-scientists-are-finding-cancers-signatures-in-tumour-dna\/\">Source<\/a><\/p>","protected":false},"excerpt":{"rendered":"<p>Cancers begin when changes in genes called mutations cause cells to start multiplying uncontrollably. Mutations can be the result of damage to DNA caused by external agents, like UV light or chemicals in cigarettes, or caused by \u2018mistakes\u2019 when DNA is replicated in cells before they divide. Cancer cells can have large numbers of these [&hellip;]<\/p>\n","protected":false},"author":2,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_monsterinsights_skip_tracking":false,"footnotes":""},"categories":[5137],"tags":[],"class_list":["post-28138","post","type-post","status-publish","format-standard","hentry","category-world-news"],"_links":{"self":[{"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/posts\/28138","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/users\/2"}],"replies":[{"embeddable":true,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/comments?post=28138"}],"version-history":[{"count":1,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/posts\/28138\/revisions"}],"predecessor-version":[{"id":43293,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/posts\/28138\/revisions\/43293"}],"wp:attachment":[{"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/media?parent=28138"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/categories?post=28138"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/ogkologos.com\/en\/wp-json\/wp\/v2\/tags?post=28138"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}