{"id":13934,"date":"2026-03-31T16:00:35","date_gmt":"2026-03-31T16:00:35","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=7b7c2503ce604ebe767ff0b452396cd7"},"modified":"2026-03-31T16:00:35","modified_gmt":"2026-03-31T16:00:35","slug":"atm-c-7374_7375insalu-is-a-french-canadian-founder-pathogenic-variant-associated-with-predisposition-to-pancreatic-and-breast-cancer","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/03\/31\/atm-c-7374_7375insalu-is-a-french-canadian-founder-pathogenic-variant-associated-with-predisposition-to-pancreatic-and-breast-cancer\/","title":{"rendered":"ATM c.7374_7375insAlu is a French-Canadian founder pathogenic variant associated with predisposition to pancreatic and breast cancer"},"content":{"rendered":"<p>Founder pathogenic variants (PVs) in <I>BRCA1<\/I>, <I>BRCA2<\/I> and <I>PALB2<\/I> increase lifetime risk of developing breast (BC), ovarian (OC) and pancreatic (PC) cancer. They have been identified in French-Canadians (FC), a population exhibiting genetic drift due to common ancestral origins. PVs in <I>ATM<\/I> also increase BC and PC risk; however, <I>ATM<\/I> founder PVs have not been described in FCs. Here, we report the identification of a germline <I>ATM<\/I> c.7374_7375insAlu in a FC family with BC and PC. Using a case-control study of 19 852 FC individuals, we show that heterozygous carriers of this variant are more prevalent in PC cases versus controls (6\/325 (1.85%) vs 28\/18 129 (0.15%), p&lt;0.001) and BC cases versus female controls (5\/858 (0.58%) vs 13\/9768 (0.13%), p&lt;0.001). There was no difference in the prevalence of heterozygous carriers in patients with endometrial cancer or OC compared to controls. <I>ATM<\/I>c.7374_7375insAlu carriers share a common haplotype, suggesting that the variant was inherited from a common FC ancestor, which originated approximately 10.53 generations (305 years) ago. Taken together, this study identifies <I>ATM<\/I> c.7374_7375insAlu as a novel FC founder PV that contributes to PC and BC predisposition. Improving carrier detection may identify at-risk relatives who may benefit from cancer-directed surveillance.<\/p>","protected":false},"excerpt":{"rendered":"<p>Founder pathogenic variants (PVs) in BRCA1, BRCA2 and PALB2 increase lifetime risk of developing breast (BC), ovarian (OC) and pancreatic (PC) cancer. They have been identified in French-Canadians (FC), a population exhibiting genetic drift due to comm&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,8],"tags":[],"class_list":["post-13934","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg-first"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/13934","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=13934"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/13934\/revisions"}],"predecessor-version":[{"id":13935,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/13934\/revisions\/13935"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=13934"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=13934"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=13934"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}