{"id":14474,"date":"2025-07-02T09:50:57","date_gmt":"2025-07-02T07:50:57","guid":{"rendered":"https:\/\/www.humangenetik-umg.de\/?p=14474"},"modified":"2025-07-02T09:50:57","modified_gmt":"2025-07-02T07:50:57","slug":"gene-of-the-month-june-atm","status":"publish","type":"post","link":"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-june-atm\/","title":{"rendered":"Gene of the Month &#8211; June: ATM"},"content":{"rendered":"<p>The ATM serine\/threonine protein kinase, encoded by the <em>ATM<\/em> gene, plays a crucial role in regulating the cell\u2019s mechanisms to repair DNA damage, and mutations in <em>ATM<\/em> increase the risk of cancer and impact how cancer progresses. However, many of the identified changes in <em>ATM<\/em> are currently classified as \u201cvariants of unclear significant\u201d, i.e. their clinical relevance is not clear. Researchers have now investigated all possible variants in the coding regions of <em>ATM<\/em> with respect to their effect on cell survival. Their study, recently published in <em>Cell<\/em>, aimed at enhancing cancer risk assessment and prognosis prediction.<\/p>\n<p>The researchers systematically assessed all 27,513 possible single nucleotide variants (SNVs) in <em>ATM<\/em>. For genome editing, they used prime editing, a tool which allows to precisely and specifically rewrite single base pairs in the genome while avoiding DNA double strand breaks. Additionally, they developed a highly accurate deep learning model (DeepATM) for predicting functional impacts of <em>ATM<\/em> variants. Integration of their data with the UK Biobank cohort identified 382 high-risk SNVs linked to cancer.<\/p>\n[vc_column_text]Lee KS, Min JG, Cheong Y, \u2026 Kim HH. Functional assessment of all ATM SNVs using prime editing and deep learning. <em>Cell<\/em>. 2025 Jun 25:S0092-8674(25)00634-8. doi: 10.1016\/j.cell.2025.05.046. Epub ahead of print. [\/vc_column_text]\n[mk_button dimension=&#8221;flat&#8221; size=&#8221;medium&#8221; icon=&#8221;mk-icon-long-arrow-right&#8221; icon_anim=&#8221;side&#8221; url=&#8221;https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/40580951&#8243; target=&#8221;_blank&#8221; bg_color=&#8221;#006699&#8243; btn_hover_bg=&#8221;#000000&#8243; btn_hover_txt_color=&#8221;#ffffff&#8221;]Article in PubMed[\/mk_button][mk_padding_divider size=&#8221;30&#8243;]\n","protected":false},"excerpt":{"rendered":"<p>The ATM serine\/threonine protein kinase, encoded by the ATM gene, plays a crucial role in regulating the cell\u2019s mechanisms to repair DNA damage, and mutations in ATM increase the risk of cancer and impact how cancer progresses. However, many of the identified changes in ATM are currently classified as \u201cvariants of unclear significant\u201d, i.e. their [&hellip;]<\/p>\n","protected":false},"author":3,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[54],"tags":[],"class_list":["post-14474","post","type-post","status-publish","format-standard","hentry","category-gene-of-the-month"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.8 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Gene of the Month - June: ATM - Institut f\u00fcr Humangenetik<\/title>\n<meta name=\"description\" content=\"Using prime editing and deep learning, researchers functionally assessed all 27,513 possible single nucleotide variants in the ATM gene.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-june-atm\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Gene of the Month - June: ATM - Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"og:description\" content=\"Using prime editing and deep learning, researchers functionally assessed all 27,513 possible single nucleotide variants in the ATM gene.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-june-atm\/\" \/>\n<meta property=\"og:site_name\" content=\"Institut f\u00fcr Humangenetik\" \/>\n<meta property=\"article:published_time\" content=\"2025-07-02T07:50:57+00:00\" \/>\n<meta name=\"author\" content=\"KB\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"KB\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutes\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-june-atm\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/gene-of-the-month-june-atm\/\"},\"author\":{\"name\":\"KB\",\"@id\":\"https:\/\/www.humangenetik-umg.de\/en\/#\/schema\/person\/521bbb2a6ceb55060a1ef5eccb794675\"},\"headline\":\"Gene of the Month &#8211; 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