{"id":1057,"date":"2025-10-23T06:45:42","date_gmt":"2025-10-23T06:45:42","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=b689459944c2002b449aa656e1f2919c"},"modified":"2026-01-20T14:16:17","modified_gmt":"2026-01-20T14:16:17","slug":"dental-agenesis-as-a-novel-phenotypical-feature-associated-with-hereditary-diffuse-gastric-cancer-in-china","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/23\/dental-agenesis-as-a-novel-phenotypical-feature-associated-with-hereditary-diffuse-gastric-cancer-in-china\/","title":{"rendered":"Dental agenesis as a novel phenotypical feature associated with hereditary diffuse gastric cancer in China"},"content":{"rendered":"\n<sec><st>Background<\/st>\n<p>Hereditary diffuse gastric cancer (HDGC) is an autosomal dominant gastric cancer associated with germline <I>CDH1<\/I> mutations. Carriers of <I>CDH1<\/I> mutations have a higher risk of developing gastric cancer at a younger age, highlighting the need for a phenotypic feature for early diagnosis and management.<\/p>\n<\/sec>\n<sec><st>Methods<\/st>\n<p>We analysed 121 patients with gastric cancer who underwent genetic testing at the National Cancer Center in China. <I>CDH1<\/I> mutation status was assessed using next-generation sequencing. Fisher&rsquo;s exact test and Mann-Whitney U test were performed to compare clinicopathological features between <I>CDH1<\/I>-mutated and non-mutated patient groups.<\/p>\n<\/sec>\n<sec><st>Results<\/st>\n<p>Among 121 index cases, three <I>CDH1<\/I> germline mutation carriers (2.5%) were identified. Mutation carriers were diagnosed at a significantly younger age compared with non-carriers (<I>p<\/I>&lt;0.05). Notably, two patients in our cohort exhibited congenital tooth agenesis, a phenotypical feature rarely reported in patients with HDGC and previously undocumented in East Asian cohorts.<\/p>\n<\/sec>\n<sec><st>Conclusion<\/st>\n<p>Congenital tooth agenesis represents a phenotypic manifestation associated with <I>CDH1<\/I> germline mutations. Awareness of such features could enhance recognition of high-risk individuals and support genetic counselling and surveillance strategies. Further studies are needed to confirm these associations.<\/p>\n<\/sec>\n","protected":false},"excerpt":{"rendered":"<p>Background<br \/>\nHereditary diffuse gastric cancer (HDGC) is an autosomal dominant gastric cancer associated with germline CDH1 mutations. Carriers of CDH1 mutations have a higher risk of developing gastric cancer at a younger age, highlighting the need for&#8230;<\/p>\n","protected":false},"author":224,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14],"tags":[83],"class_list":["post-1057","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg","tag-jmedgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1057","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\/224"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1057"}],"version-history":[{"count":2,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1057\/revisions"}],"predecessor-version":[{"id":6825,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1057\/revisions\/6825"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1057"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1057"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1057"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}