{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,8]],"date-time":"2026-01-08T03:12:26Z","timestamp":1767841946683,"version":"3.49.0"},"reference-count":14,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2021,10,6]]},"DOI":"10.7759\/cureus.18543","type":"journal-article","created":{"date-parts":[[2021,10,6]],"date-time":"2021-10-06T21:39:46Z","timestamp":1633556386000},"source":"Crossref","is-referenced-by-count":2,"title":["Diffuse Gastrointestinal Polyposis in Bannayan-Riley-Ruvalcaba Syndrome: A Rare Phenotype Among Phosphatase and Tensin Homolog Hamartoma Tumor Syndromes"],"prefix":"10.7759","author":[{"given":"Ivania","family":"Salinas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Genesis","family":"Perez Del Nogal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro","family":"Herrera","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Pedro","family":"Rojas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kejal","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1016\/j.csbj.2021.05.028","article-title":"Distinguishing between PTEN clinical phenotypes through mutation analysis","volume":"19","author":"Portelli S","year":"2021","unstructured":"Portelli S, Barr L, de S\u00e1 AG, Pires DE, Ascher DB. Distinguishing between PTEN clinical phenotypes through mutation analysis. Comput Struct Biotechnol J. 2021, 19:3097-3109. 10.1016\/j.csbj.2021.05.028","journal-title":"Comput Struct Biotechnol J"},{"key":"ref2","unstructured":"Eng C. Bannayan-Riley-Ruvalcaba syndrome. (2020). Accessed. June  5, 2021: https:\/\/www.orpha.net\/consor\/cgi-bin\/OC_Exp.php?Lng=GB&Expert=109."},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/onc.2008.248","article-title":"The role of PTEN signaling perturbations in cancer and in targeted therapy","volume":"27","author":"Keniry M","year":"2008","unstructured":"Keniry M, Parsons R. The role of PTEN signaling perturbations in cancer and in targeted therapy. Oncogene. 2008, 27:5477-5485. 10.1038\/onc.2008.248","journal-title":"Oncogene"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/s0092-8674(00)81780-8","article-title":"Negative regulation of PKB\/Akt-dependent cell survival by the tumor suppressor PTEN","volume":"95","author":"Stambolic V","year":"1998","unstructured":"Stambolic V, Suzuki A, de la Pompa JL, et al.. Negative regulation of PKB\/Akt-dependent cell survival by the tumor suppressor PTEN. Cell. 1998, 95:29-39. 10.1016\/s0092-8674(00)81780-8","journal-title":"Cell"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2010.1877","article-title":"Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome","volume":"304","author":"Bennett KL","year":"2010","unstructured":"Bennett KL, Mester J, Eng C. Germline epigenetic regulation of KILLIN in Cowden and Cowden-like syndrome. JAMA. 2010, 304:2724-2731. 10.1001\/jama.2010.1877","journal-title":"JAMA"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1023\/a:1025713815924","article-title":"Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases","volume":"2","author":"Hendriks YM","year":"2003","unstructured":"Hendriks YM, Verhallen JT, van der Smagt JJ, et al.. Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases. Fam Cancer. 2003, 2:79-85. 10.1023\/a:1025713815924","journal-title":"Fam Cancer"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/ng0596-114","article-title":"Localization of the gene for Cowden disease to chromosome 10q22-23","volume":"13","author":"Nelen MR","year":"1996","unstructured":"Nelen MR, Padberg GW, Peeters EA, et al.. Localization of the gene for Cowden disease to chromosome 10q22-23. Nat Genet. 1996, 13:114-116. 10.1038\/ng0596-114","journal-title":"Nat Genet"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.3390\/cancers11060844","article-title":"PTEN hamartoma tumor syndrome: a clinical overview","volume":"11","author":"Pilarski R","year":"2019","unstructured":"Pilarski R. PTEN hamartoma tumor syndrome: a clinical overview. Cancers (Basel). 2019, 11:844. 10.3390\/cancers11060844","journal-title":"Cancers (Basel)"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3315\/jdcr.2011.1063","article-title":"Cowden syndrome","volume":"5","author":"Masmoudi A","year":"2011","unstructured":"Masmoudi A, Chermi ZM, Marrekchi S, et al.. Cowden syndrome. J Dermatol Case Rep. 2011, 5:8-13. 10.3315\/jdcr.2011.1063","journal-title":"J Dermatol Case Rep"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1053\/j.gastro.2010.06.061","article-title":"Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers","volume":"139","author":"Heald B","year":"2010","unstructured":"Heald B, Mester J, Rybicki L, Orloff MS, Burke CA, Eng C. Frequent gastrointestinal polyps and colorectal adenocarcinomas in a prospective series of PTEN mutation carriers. Gastroenterology. 2010, 139:1927-1933. 10.1053\/j.gastro.2010.06.061","journal-title":"Gastroenterology"},{"key":"ref11","unstructured":"National Comprehensive Cancer Network (NCCN). NCCN clinical practice guidelines in oncology. (2021). Accessed. August 19, 2021: https:\/\/www.nccn.org\/professionals\/physician_gls."},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1038\/ctg.2011.4","article-title":"Upper and lower gastrointestinal findings in PTEN mutation-positive Cowden syndrome patients participating in an active surveillance program","volume":"2","author":"Levi Z","year":"2011","unstructured":"Levi Z, Baris HN, Kedar I, et al.. Upper and lower gastrointestinal findings in PTEN mutation-positive Cowden syndrome patients participating in an active surveillance program. Clin Transl Gastroenterol. 2011, 2:e5. 10.1038\/ctg.2011.4","journal-title":"Clin Transl Gastroenterol"},{"key":"ref13","unstructured":"ClinicalTrials.gov. Sirolimus for Cowden Syndrome With Colon Polyposis. (2019). Accessed. June 14, 2021: https:\/\/clinicaltrials.gov\/ct2\/show\/NCT04094675."},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1634\/theoncologist.2019-0514","article-title":"A pilot study of sirolimus in subjects with Cowden syndrome or other syndromes characterized by germline mutations in PTEN","volume":"24","author":"Komiya T","year":"2019","unstructured":"Komiya T, Blumenthal GM, DeChowdhury R, et al.. A pilot study of sirolimus in subjects with Cowden syndrome or other syndromes characterized by germline mutations in PTEN. Oncologist. 2019, 24:1510-e1265. 10.1634\/theoncologist.2019-0514","journal-title":"Oncologist"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/71934-diffuse-gastrointestinal-polyposis-in-bannayan-riley-ruvalcaba-syndrome-a-rare-phenotype-among-phosphatase-and-tensin-homolog-hamartoma-tumor-syndromes","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T19:30:29Z","timestamp":1707507029000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/71934-diffuse-gastrointestinal-polyposis-in-bannayan-riley-ruvalcaba-syndrome-a-rare-phenotype-among-phosphatase-and-tensin-homolog-hamartoma-tumor-syndromes"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,10,6]]},"references-count":14,"URL":"https:\/\/doi.org\/10.7759\/cureus.18543","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2021,10,6]]}}}