{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T04:30:46Z","timestamp":1786595446927,"version":"build-2736575974"},"reference-count":29,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T00:00:00Z","timestamp":1786579200000},"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. Oncol."],"abstract":"\n Introduction<\/jats:title>\n \n Juvenile polyposis syndrome (JPS) is a rare autosomal-dominant disorder characterized by numerous juvenile hamartomatous polyps in the gastrointestinal tract (GIT), increasing cancer risk. Pathogenic and likely pathogenic (P\/LP) variants in the\n SMAD4<\/jats:italic>\n or\n BMPR1A<\/jats:italic>\n genes are associated with JPS. Here, we present a case of JPS with variants in\n BMPR1A<\/jats:italic>\n and\n BARD1<\/jats:italic>\n .\n <\/jats:p>\n <\/jats:sec>\n \n Case description<\/jats:title>\n This case involves a 62-year-old Colombian woman with multiple colorectal polyps. Family history included gastric cancer in the mother and the paternal grandmother, and colorectal polyps in two sisters and one daughter.<\/jats:p>\n <\/jats:sec>\n \n Results<\/jats:title>\n \n Germline testing of the proband identified a novel heterozygous frameshift variant in exon 11 of\n BMPR1A<\/jats:italic>\n (NM_004329.3:c.1259dup) and a heterozygous frameshift variant in exon 11 of\n BARD1<\/jats:italic>\n (NM_000465.4:c.2229dup), both predicted to introduce premature stop codons. The variants were validated by Sanger sequencing and evaluated by KASP genotyping in available relatives. In the JPS family, the\n BMPR1A<\/jats:italic>\n variant was detected in the affected daughter and was absent in the tested unaffected relatives, supporting a presumed\n de novo<\/jats:italic>\n origin, although parental testing was not available. In an independent case of cecal adenocarcinoma identified among 18 unrelated index cases, parental testing confirmed the\n de novo<\/jats:italic>\n origin of the\n BMPR1A<\/jats:italic>\n variant. To our knowledge, these variants have not yet been described in Colombia.\n <\/jats:p>\n <\/jats:sec>\n \n Conclusion<\/jats:title>\n \n Germline genetic testing revealed for the first time the presence of a possible novel\n de novo<\/jats:italic>\n pathogenic variant in\n BMPR1A<\/jats:italic>\n in a family with JPS and a case with an adenocarcinoma and family history of cancer, which may partially explain the etiology of the syndrome and facilitate cancer risk management for the other family members. In addition, the likely pathogenic variant in\n BARD1<\/jats:italic>\n identified in our proband may be either incidental or causal. This latter gene is associated with an increased risk of breast cancer; however, additional evidence is required to support the role of this gene in the risk of JPS or GIT cancer.\n <\/jats:p>\n <\/jats:sec>","DOI":"10.3389\/fonc.2026.1812499","type":"journal-article","created":{"date-parts":[[2026,8,13]],"date-time":"2026-08-13T04:24:43Z","timestamp":1786595083000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: BMPR1A and BARD1 variants: first case identified in a Colombian family with juvenile polyposis syndrome"],"prefix":"10.3389","volume":"16","author":[{"given":"John Jairo","family":"Su\u00e1rez","sequence":"first","affiliation":[{"name":"Cytogenetics, Phylogeny and Population Evolution Group, Faculty of Sciences and Faculty of Health Sciences, University of Tolima","place":["Ibagu\u00e9, Colombia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennyfer","family":"Benavides","sequence":"additional","affiliation":[{"name":"Cytogenetics, Phylogeny and Population Evolution Group, Faculty of Sciences and Faculty of Health Sciences, University of Tolima","place":["Ibagu\u00e9, Colombia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea Catalina","family":"Rubio-Vargas","sequence":"additional","affiliation":[{"name":"Cytogenetics, Phylogeny and Population Evolution Group, Faculty of Sciences and Faculty of Health Sciences, University of Tolima","place":["Ibagu\u00e9, Colombia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paul C.","family":"Lott","sequence":"additional","affiliation":[{"name":"Genome Center, Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis","place":["Davis, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"V\u00e9lez","sequence":"additional","affiliation":[{"name":"Pablo Tob\u00f3n Uribe Hospital, Din\u00e1mica Laboratory","place":["Medell\u00edn, Colombia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jorge Mario","family":"Castro","sequence":"additional","affiliation":[{"name":"Federico Lleras Acosta Hospital","place":["Ibagu\u00e9, Colombia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonio","family":"Huertas","sequence":"additional","affiliation":[{"name":"National Cancer Institute","place":["Bogot\u00e1, Colombia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Magdalena","family":"Echeverry de Polanco","sequence":"additional","affiliation":[{"name":"Cytogenetics, Phylogeny and Population Evolution Group, Faculty of Sciences and Faculty of Health Sciences, University of Tolima","place":["Ibagu\u00e9, Colombia"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Luis G.","family":"Carvajal-Carmona","sequence":"additional","affiliation":[{"name":"Genome Center, Department of Biochemistry and Molecular Medicine, School of Medicine, University of California, Davis","place":["Davis, United States"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mabel","family":"Boh\u00f3rquez","sequence":"additional","affiliation":[{"name":"Cytogenetics, Phylogeny and Population Evolution Group, Faculty of Sciences and Faculty of Health Sciences, University of Tolima","place":["Ibagu\u00e9, Colombia"]},{"name":"Medicine Program, Department of Health Sciences, Tolima University","place":["Colombia, Ibagu\u00e9, Colombia"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,8,13]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","DOI":"10.1007\/s10689-023-00338-z","article-title":"Whole genome sequencing and 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