{"id":1147,"date":"2025-11-21T13:24:34","date_gmt":"2025-11-21T13:24:34","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=62aede7f6269ce685bde37cfcf49878e"},"modified":"2025-11-21T13:24:34","modified_gmt":"2025-11-21T13:24:34","slug":"apc-i1307k-and-clinical-management-insights-from-uk-biobank-association-analysis-of-colorectal-and-other-cancer-risks-in-ashkenazi-and-non-ashkenazi-whites","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/11\/21\/apc-i1307k-and-clinical-management-insights-from-uk-biobank-association-analysis-of-colorectal-and-other-cancer-risks-in-ashkenazi-and-non-ashkenazi-whites\/","title":{"rendered":"APC I1307K and clinical management: insights from UK Biobank association analysis of colorectal and other cancer risks in Ashkenazi and non-Ashkenazi whites"},"content":{"rendered":"\n<sec><st>Background<\/st>\n<p>  <I>APC<\/I> c.3920T&gt;A; p.Ile1307Lys (I1307K), prevalent in individuals of Ashkenazi Jewish (AJ) origin, has been associated with a modestly increased colorectal cancer (CRC) risk. Clinical recommendations for I1307K heterozygotes vary across countries and expert groups, reflecting differences in population frequencies, modest risk estimates and limited data in non-AJ individuals.<\/p>\n<\/sec>\n<sec><st>Methods<\/st>\n<p>We analysed UK Biobank data comprising 466 315 individuals (8944 with CRC), using genomic analysis to classify AJ and non-AJ ancestries.<\/p>\n<\/sec>\n<sec><st>Results<\/st>\n<p>I1307K was identified in 7.1% of AJ and 0.08% of non-AJ white participants. No significant association with CRC was observed in AJ (OR: 0.71; 95% CI: 0.17 to 2.95) or non-AJ white individuals (OR: 1.05; 95% CI: 0.50 to 2.22). The previously established OR of 1.7&ndash;1.8 for AJ individuals lies within our 95% CI, indicating underpowered results due to limited CRC cases. No significant associations were detected for other cancers. Unbiased, adequately powered CRC case&ndash;control studies in non-AJ populations would require cohorts far larger than current resources for feasible analysis.<\/p>\n<\/sec>\n<sec><st>Conclusion<\/st>\n<p>Clinical actionability of I1307K should prioritise risk stratification based on overall CRC risk and ancestry-dependent variant detection rates. However, management strategies need not differ by ancestry once a carrier is identified, as the biological impact of I1307K should be consistent across populations.<\/p>\n<\/sec>\n","protected":false},"excerpt":{"rendered":"<p>Background<br \/>\n  APC c.3920T&gt;A; p.Ile1307Lys (I1307K), prevalent in individuals of Ashkenazi Jewish (AJ) origin, has been associated with a modestly increased colorectal cancer (CRC) risk. Clinical recommendations for I1307K heterozygotes vary across c&#8230;<\/p>\n","protected":false},"author":231,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14,9],"tags":[83],"class_list":["post-1147","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg","category-open-access","tag-jmedgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1147","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"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/231"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1147"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1147\/revisions"}],"predecessor-version":[{"id":1148,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1147\/revisions\/1148"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1147"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1147"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1147"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}