{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,29]],"date-time":"2025-12-29T02:26:07Z","timestamp":1766975167045,"version":"3.48.0"},"reference-count":12,"publisher":"Wiley","issue":"12","license":[{"start":{"date-parts":[[2025,7,10]],"date-time":"2025-07-10T00:00:00Z","timestamp":1752105600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000054","name":"National Cancer Institute","doi-asserted-by":"publisher","award":["R01CA255323\u201001"],"award-info":[{"award-number":["R01CA255323\u201001"]}],"id":[{"id":"10.13039\/100000054","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2025,12]]},"abstract":"ABSTRACT<\/jats:title>\n \n BAP1<\/jats:italic>\n Tumor Predisposition Syndrome (\n BAP1<\/jats:italic>\n \u2010TPDS) is caused by germline pathogenic variants in the\n BAP1<\/jats:italic>\n gene and has been associated with uveal melanoma, mesothelioma, cutaneous melanoma, renal cell carcinoma, and other benign cutaneous lesions. Adenomatous colon polyposis has not previously been reported as part of\n BAP1<\/jats:italic>\n \u2010TPDS. We report two patients with unexplained adenomatous oligopolyposis and germline\n BAP1<\/jats:italic>\n pathogenic variants. To determine if\n BAP1<\/jats:italic>\n had a role in polypogenesis, we performed somatic mutational analysis on multiple polyps from both patients (\n n<\/jats:italic>\n \u2009=\u20098 total polyps tested). In every polyp tested, we found evidence of second\n BAP1<\/jats:italic>\n allele inactivation, including second somatic\n BAP1<\/jats:italic>\n mutations. Further, we did not detect any mutations in the commonly identified adenomatous polyposis pathway drivers,\n APC<\/jats:italic>\n ,\n CTNNB1<\/jats:italic>\n , or other WNT\/\u03b2\u2010catenin. We did not detect somatic\n BAP1<\/jats:italic>\n mutations in any adenomatous polyps from patients without germline\n BAP1<\/jats:italic>\n pathogenic variants (\n n<\/jats:italic>\n \u2009=\u2009151 patients), highlighting the specificity of somatic\n BAP1<\/jats:italic>\n second hit mutations in\n BAP1<\/jats:italic>\n germline carrier polyps. Our findings strongly support that the polyps in these patients were caused by\n BAP1<\/jats:italic>\n , and that adenomatous oligopolyposis is a part of the\n BAP1<\/jats:italic>\n \u2010TPDS tumor spectrum. Further work is needed to characterize the penetrance of this new\n BAP1<\/jats:italic>\n \u2010associated phenotype.\n <\/jats:p>","DOI":"10.1002\/ajmg.a.64176","type":"journal-article","created":{"date-parts":[[2025,7,10]],"date-time":"2025-07-10T09:38:02Z","timestamp":1752140282000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["First Report of\n BAP1<\/i>\n \u2010Associated Polyposis"],"prefix":"10.1002","volume":"197","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6565-1459","authenticated-orcid":false,"given":"Angela L.","family":"Jacobson","sequence":"first","affiliation":[{"name":"Department of Laboratory Medicine and Pathology University of Washington Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-0292-2557","authenticated-orcid":false,"given":"Maegan E.","family":"Roberts","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Internal Medicine The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7131-5331","authenticated-orcid":false,"given":"Lindsey","family":"Byrne","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Internal Medicine The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jenna","family":"Wolfe","sequence":"additional","affiliation":[{"name":"Division of Human Genetics, Department of Internal Medicine The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Peter P.","family":"Stanich","sequence":"additional","affiliation":[{"name":"Division of Gastroenterology, Hepatology & Nutrition, Department of Internal Medicine The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9493-7894","authenticated-orcid":false,"given":"Mohamed H.","family":"Abdel\u2010Rahman","sequence":"additional","affiliation":[{"name":"Department of Ophthalmology and Visual Science Havener Eye Institute, The Ohio State University Columbus Ohio USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Colin C.","family":"Pritchard","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology University of Washington Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eric Q.","family":"Konnick","sequence":"additional","affiliation":[{"name":"Department of Laboratory Medicine and Pathology University of Washington Seattle Washington USA"},{"name":"Brotman Baty Institute for Precision Medicine Seattle Washington USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,7,10]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet\u20102011\u2010100156"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/cge.12472"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12920\u2010022\u201001294\u2010w"},{"key":"e_1_2_8_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2018.03.039"},{"key":"e_1_2_8_6_1","doi-asserted-by":"publisher","DOI":"10.1093\/neuonc\/now235"},{"key":"e_1_2_8_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.212"},{"key":"e_1_2_8_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.912"},{"key":"e_1_2_8_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/jnci\/djy171"},{"key":"e_1_2_8_10_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng.910"},{"key":"e_1_2_8_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/gcc.22539"},{"key":"e_1_2_8_12_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.1309085110"},{"key":"e_1_2_8_13_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41556\u2010018\u20100178\u20100"}],"container-title":["American Journal of Medical Genetics Part 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