{"id":957,"date":"2025-07-31T19:00:00","date_gmt":"2025-07-31T19:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=282860ef4e9e34668f54703bcdea9336"},"modified":"2026-02-03T14:12:34","modified_gmt":"2026-02-03T14:12:34","slug":"genetic-determinants-of-response-to-neoadjuvant-chemoradiotherapy-in-rectal-cancer-identified-by-whole-exome-sequencing","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/07\/31\/genetic-determinants-of-response-to-neoadjuvant-chemoradiotherapy-in-rectal-cancer-identified-by-whole-exome-sequencing\/","title":{"rendered":"Genetic Determinants of Response to Neoadjuvant Chemoradiotherapy in Rectal Cancer Identified by Whole Exome Sequencing"},"content":{"rendered":"\n<h2>ABSTRACT<\/h2>\n<h2>Background<\/h2>\n<p>Neoadjuvant chemoradiotherapy (nCRT) is essential for treating locally advanced rectal cancer (LARC), however response to nCRT varies, and reliable predictors are lacking.<\/p>\n<h2>Methods<\/h2>\n<p>This study used whole exome sequencing analysis to investigate genetic differences between tumors highly responsive and non-responsive to nCRT. Five patients with good response and two patients without response to nCRT were used as a discovery set.<\/p>\n<h2>Results<\/h2>\n<p>The analysis identified 15 InDels and 202 non-synonymous SNVs exclusively present in tumors of non-responders, mainly in genes regulating the cell cycle, adhesion, and migration. In contrast, 9 InDels and 122 non-synonymous SNVs were exclusively present in tumors of good responders, primarily in extracellular matrix remodeling and immunity-related genes. Six variants in transmembrane transporter genes were selected as candidate biomarkers and validated in 33 LARC patients.<\/p>\n<h2>Conclusion<\/h2>\n<p>The results suggest that <i>SLC16A6<\/i> rs7222013 and <i>SLC25A2<\/i> rs3749780 may serve as potential predictors of poor nCRT response in LARC patients.<\/p>","protected":false},"excerpt":{"rendered":"<p>Annals of Human Genetics, Volume 90, Issue 2, Page 87-96, March 2026.<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[60,6,42],"tags":[43],"class_list":["post-957","post","type-post","status-publish","format-standard","hentry","category-annals-of-human-genetics","category-articulos","category-original-article","tag-annhumgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/957","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=957"}],"version-history":[{"count":2,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/957\/revisions"}],"predecessor-version":[{"id":8751,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/957\/revisions\/8751"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=957"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=957"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=957"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}