{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T06:26:34Z","timestamp":1772000794013,"version":"3.50.1"},"reference-count":13,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T00:00:00Z","timestamp":1771977600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Introduction<\/jats:title>\n                    <jats:p>\n                      Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS) is a rare autosomal dominant familial gastric cancer syndrome. GAPPS is caused by pathogenic variant in the regulatory region of\n                      <jats:italic>APC<\/jats:italic>\n                      . This study describes the first Korean case of GAPPS associated with a novel likely pathogenic variant in\n                      <jats:italic>APC<\/jats:italic>\n                      promoter 1B region.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      A 35-years-old female patient who have gastric polyposis extending from the fundus to the body of the stomach was evaluated. Sanger sequencing was performed to detect mutations in\n                      <jats:italic>APC<\/jats:italic>\n                      promoter 1B region. A familial segregation study and\n                      <jats:italic>in vitro<\/jats:italic>\n                      luciferase activity assay were conducted to assess the pathogenicity of the novel variant.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      A novel variant, c.-181dupC heterozygote, in\n                      <jats:italic>APC<\/jats:italic>\n                      promoter 1B region was detected. The same variant was found in her father, who underwent gastrectomy for gastric cancer. The\n                      <jats:italic>in vitro<\/jats:italic>\n                      functional study revealed a significant decrease in the expression of the\n                      <jats:italic>APC<\/jats:italic>\n                      promoter 1B variant in both HEK 293\u00a0TN and HeLa cells.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>This is the first reported case of GAPPS in Korea, associated with a novel likely pathogenic variant in APC promoter 1B, linked to a significant reduction in gene expression.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1695311","type":"journal-article","created":{"date-parts":[[2026,2,25]],"date-time":"2026-02-25T05:33:06Z","timestamp":1771997586000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel APC promoter 1B variant associated with gastric adenocarcinoma and proximal polyposis of the stomach: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Jong Sun","family":"Park","sequence":"first","affiliation":[{"name":"Department of Gastroenterology, Ajou University Hospital, Ajou University School of Medicine","place":["Suwon, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sun Gyo","family":"Lim","sequence":"additional","affiliation":[{"name":"Department of Gastroenterology, Ajou University Hospital, Ajou University School of Medicine","place":["Suwon, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jongmun","family":"Choi","sequence":"additional","affiliation":[{"name":"GC Genome","place":["Yongin, Republic of Korea"]},{"name":"GC Labs","place":["Yongin, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sae-Mi","family":"Lee","sequence":"additional","affiliation":[{"name":"GC Genome","place":["Yongin, Republic of Korea"]},{"name":"GC Labs","place":["Yongin, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chang Ahn","family":"Seol","sequence":"additional","affiliation":[{"name":"GC Genome","place":["Yongin, Republic of Korea"]},{"name":"GC Labs","place":["Yongin, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Seon-Yong","family":"Jeong","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine","place":["Suwon, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eunkuk","family":"Park","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine","place":["Suwon, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Young Bae","family":"Sohn","sequence":"additional","affiliation":[{"name":"Department of Medical Genetics, Ajou University Hospital, Ajou University School of Medicine","place":["Suwon, Republic of Korea"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,25]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1131","DOI":"10.1055\/s-0043-117182","article-title":"Gastric adenocarcinoma and proximal polyposis of the stomach (GAPPS)\u2013a rare recently described gastric polyposis syndrome\u2013report of a case","volume":"55","author":"Beer","year":"2017","journal-title":"Z. 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