{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T02:18:44Z","timestamp":1767061124677,"version":"3.48.0"},"reference-count":52,"publisher":"Springer Science and Business Media LLC","issue":"6","license":[{"start":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T00:00:00Z","timestamp":1747094400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"},{"start":{"date-parts":[[2025,5,13]],"date-time":"2025-05-13T00:00:00Z","timestamp":1747094400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springernature.com\/gp\/researchers\/text-and-data-mining"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Virchows Arch"],"published-print":{"date-parts":[[2025,12]]},"DOI":"10.1007\/s00428-025-04118-1","type":"journal-article","created":{"date-parts":[[2025,5,12]],"date-time":"2025-05-12T23:46:01Z","timestamp":1747093561000},"page":"1213-1222","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Screening at the scope: enhancing the role of pathologists in diagnosing gastrointestinal polyposis syndromes"],"prefix":"10.1007","volume":"487","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9830-7147","authenticated-orcid":false,"given":"Pari","family":"Jafari","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christine","family":"Drogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emma","family":"Keel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sonia","family":"Kupfer","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"John","family":"Hart","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Namrata","family":"Setia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2025,5,13]]},"reference":[{"key":"4118_CR1","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1007\/s10689-020-00170-9","volume":"19","author":"B Heald","year":"2020","unstructured":"Heald B, Hampel H, Church J et al (2020) Collaborative Group of the Americas on inherited gastrointestinal cancer position statement on multigene panel testing for patients with colorectal cancer and\/or polyposis. Fam Cancer 19:223\u2013239. https:\/\/doi.org\/10.1007\/s10689-020-00170-9","journal-title":"Fam Cancer"},{"key":"4118_CR2","doi-asserted-by":"publisher","first-page":"429","DOI":"10.1016\/j.hoc.2022.02.002","volume":"36","author":"H Hampel","year":"2022","unstructured":"Hampel H, Kalady MF, Pearlman R, Stanich PP (2022) Hereditary colorectal cancer. Hematol Oncol Clin North Am 36:429\u2013447. https:\/\/doi.org\/10.1016\/j.hoc.2022.02.002","journal-title":"Hematol Oncol Clin North Am"},{"key":"4118_CR3","doi-asserted-by":"publisher","first-page":"695","DOI":"10.6004\/jnccn.2024.0061","volume":"22","author":"R Hodan","year":"2024","unstructured":"Hodan R, Gupta S, Weiss JM et al (2024) Genetic\/familial high-risk assessment: colorectal, endometrial, and gastric, Version 3.2024, NCCN Clinical Practice Guidelines In Oncology. J Natl Compr Canc Netw 22:695\u2013711. https:\/\/doi.org\/10.6004\/jnccn.2024.0061","journal-title":"J Natl Compr Canc Netw"},{"key":"4118_CR4","doi-asserted-by":"publisher","first-page":"39","DOI":"10.1097\/MOG.0000000000000796","volume":"38","author":"N Gupta","year":"2022","unstructured":"Gupta N, Drogan C, Kupfer SS (2022) How many is too many? Polyposis syndromes and what to do next. Curr Opin Gastroenterol 38:39\u201347. https:\/\/doi.org\/10.1097\/MOG.0000000000000796","journal-title":"Curr Opin Gastroenterol"},{"key":"4118_CR5","doi-asserted-by":"publisher","first-page":"411","DOI":"10.1136\/gutjnl-2019-319915","volume":"69","author":"KJ Monahan","year":"2020","unstructured":"Monahan KJ, Bradshaw N, Dolwani S et al (2020) Guidelines for the management of hereditary colorectal cancer from the British Society of Gastroenterology (BSG)\/Association of Coloproctology of Great Britain and Ireland (ACPGBI)\/United Kingdom Cancer Genetics Group (UKCGG). Gut 69:411\u2013444. https:\/\/doi.org\/10.1136\/gutjnl-2019-319915","journal-title":"Gut"},{"key":"4118_CR6","doi-asserted-by":"publisher","first-page":"223","DOI":"10.1038\/ajg.2014.435","volume":"110","author":"S Syngal","year":"2015","unstructured":"Syngal S, Brand RE, Church JM et al (2015) ACG Clinical Guideline: genetic testing and management of hereditary gastrointestinal cancer syndromes. Am J Gastroenterol 110:223\u2013262. https:\/\/doi.org\/10.1038\/ajg.2014.435","journal-title":"Am J Gastroenterol"},{"key":"4118_CR7","doi-asserted-by":"publisher","unstructured":"Gupta S, Lieberman D, Anderson JC et al (2020) Recommendations for follow-up after colonoscopy and polypectomy: a consensus update by the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol 115:415\u2013434. https:\/\/doi.org\/10.14309\/ajg.0000000000000544","DOI":"10.14309\/ajg.0000000000000544"},{"key":"4118_CR8","doi-asserted-by":"publisher","unstructured":"Boland CR, Idos GE, Durno C et al (2022) Diagnosis and management of cancer risk in the gastrointestinal hamartomatous polyposis syndromes: recommendations from the US Multi-Society Task Force on Colorectal Cancer. Am J Gastroenterol 117:846\u2013864. https:\/\/doi.org\/10.14309\/ajg.0000000000001755","DOI":"10.14309\/ajg.0000000000001755"},{"key":"4118_CR9","doi-asserted-by":"publisher","first-page":"1520","DOI":"10.1053\/j.gastro.2019.11.310","volume":"158","author":"E Dekker","year":"2020","unstructured":"Dekker E, Bleijenberg A, Balaguer F et al (2020) Update on the World Health Organization criteria for diagnosis of serrated polyposis syndrome. Gastroenterology 158:1520\u20131523. https:\/\/doi.org\/10.1053\/j.gastro.2019.11.310","journal-title":"Gastroenterology"},{"key":"4118_CR10","doi-asserted-by":"publisher","first-page":"692","DOI":"10.1007\/s11938-019-00256-z","volume":"17","author":"PP Stanich","year":"2019","unstructured":"Stanich PP, Pearlman R (2019) Hereditary or not? Understanding serrated polyposis syndrome. Curr Treat Options Gastroenterol 17:692\u2013701. https:\/\/doi.org\/10.1007\/s11938-019-00256-z","journal-title":"Curr Treat Options Gastroenterol"},{"key":"4118_CR11","doi-asserted-by":"publisher","first-page":"1058","DOI":"10.1097\/DCR.0000000000001972","volume":"64","author":"JL Alexander","year":"2021","unstructured":"Alexander JL, Johnston BJ, Smith TJ et al (2021) Low referral rates for genetic assessment of patients with multiple adenomas in United Kingdom bowel cancer screening programs. Dis Colon Rectum 64:1058\u20131063. https:\/\/doi.org\/10.1097\/DCR.0000000000001972","journal-title":"Dis Colon Rectum"},{"key":"4118_CR12","doi-asserted-by":"publisher","first-page":"824","DOI":"10.1200\/JCO.2013.51.4661","volume":"32","author":"ME Wood","year":"2014","unstructured":"Wood ME, Kadlubek P, Pham TH et al (2014) Quality of cancer family history and referral for genetic counseling and testing among oncology practices: a pilot test of quality measures as part of the American Society of Clinical Oncology Quality Oncology Practice Initiative. J Clin Oncol 32:824\u2013829. https:\/\/doi.org\/10.1200\/JCO.2013.51.4661","journal-title":"J Clin Oncol"},{"key":"4118_CR13","doi-asserted-by":"publisher","first-page":"1249","DOI":"10.1007\/s10350-008-9345-x","volume":"51","author":"LIH Overbeek","year":"2008","unstructured":"Overbeek LIH, Hoogerbrugge N, van Krieken JHJM et al (2008) Most patients with colorectal tumors at young age do not visit a cancer genetics clinic. Dis Colon Rectum 51:1249\u20131254. https:\/\/doi.org\/10.1007\/s10350-008-9345-x","journal-title":"Dis Colon Rectum"},{"key":"4118_CR14","doi-asserted-by":"publisher","first-page":"1037","DOI":"10.1158\/1940-6207.CAPR-20-0141","volume":"13","author":"S Srinivasan","year":"2020","unstructured":"Srinivasan S, Hampel H, Leeman J et al (2020) Stakeholder perspectives on overcoming barriers to cascade testing in Lynch syndrome: a qualitative study. Cancer Prev Res (Philadelphia, PA) 13:1037\u20131046. https:\/\/doi.org\/10.1158\/1940-6207.CAPR-20-0141","journal-title":"Cancer Prev Res (Philadelphia, PA)"},{"key":"4118_CR15","doi-asserted-by":"publisher","first-page":"581","DOI":"10.1016\/j.cgh.2022.12.006","volume":"21","author":"GM Cavestro","year":"2023","unstructured":"Cavestro GM, Mannucci A, Balaguer F et al (2023) Delphi Initiative for Early-Onset Colorectal Cancer (DIRECt) International Management Guidelines. Clin Gastroenterol Hepatol 21:581-603.e33. https:\/\/doi.org\/10.1016\/j.cgh.2022.12.006","journal-title":"Clin Gastroenterol Hepatol"},{"key":"4118_CR16","doi-asserted-by":"publisher","first-page":"158","DOI":"10.1002\/jgc4.1305","volume":"30","author":"LM De Simone","year":"2021","unstructured":"De Simone LM, Arjunan A, Vogel Postula KJ et al (2021) Genetic counselors\u2019 perspectives on population-based screening for BRCA-related hereditary breast and ovarian cancer and Lynch syndrome. J Genet Couns 30:158\u2013169. https:\/\/doi.org\/10.1002\/jgc4.1305","journal-title":"J Genet Couns"},{"key":"4118_CR17","doi-asserted-by":"publisher","first-page":"107","DOI":"10.1097\/MCG.0000000000001942","volume":"58","author":"PP Stanich","year":"2024","unstructured":"Stanich PP, Katona BW (2024) Rebranding colonic polyposis of unknown etiology: the dawn of idiopathic adenomatous polyposis. J Clin Gastroenterol 58:107\u2013108. https:\/\/doi.org\/10.1097\/MCG.0000000000001942","journal-title":"J Clin Gastroenterol"},{"key":"4118_CR18","doi-asserted-by":"publisher","first-page":"584","DOI":"10.1097\/MCG.0000000000000416","volume":"50","author":"AH Tieu","year":"2016","unstructured":"Tieu AH, Edelstein D, Axilbund J et al (2016) Clinical characteristics of multiple colorectal adenoma patients without germline APC or MYH mutations. J Clin Gastroenterol 50:584\u2013588. https:\/\/doi.org\/10.1097\/MCG.0000000000000416","journal-title":"J Clin Gastroenterol"},{"key":"4118_CR19","doi-asserted-by":"publisher","first-page":"1038678","DOI":"10.3389\/fonc.2022.1038678","volume":"12","author":"A Jain","year":"2022","unstructured":"Jain A, Alimirah M, Hampel H et al (2022) Multiple colorectal adenomas in Lynch syndrome. Front Oncol 12:1038678. https:\/\/doi.org\/10.3389\/fonc.2022.1038678","journal-title":"Front Oncol"},{"key":"4118_CR20","doi-asserted-by":"publisher","first-page":"388","DOI":"10.1097\/DCR.0000000000000333","volume":"58","author":"MF Kalady","year":"2015","unstructured":"Kalady MF, Kravochuck SE, Heald B et al (2015) Defining the adenoma burden in Lynch syndrome. Dis Colon Rectum 58:388\u2013392. https:\/\/doi.org\/10.1097\/DCR.0000000000000333","journal-title":"Dis Colon Rectum"},{"key":"4118_CR21","doi-asserted-by":"publisher","first-page":"1876","DOI":"10.1053\/j.gastro.2017.02.014","volume":"152","author":"S Lieberman","year":"2017","unstructured":"Lieberman S, Walsh T, Schechter M et al (2017) Features of patients with hereditary mixed polyposis syndrome caused by duplication of GREM1 and implications for screening and surveillance. Gastroenterology 152:1876-1880.e1. https:\/\/doi.org\/10.1053\/j.gastro.2017.02.014","journal-title":"Gastroenterology"},{"key":"4118_CR22","doi-asserted-by":"publisher","first-page":"e13","DOI":"10.1136\/jmg.2005.034827","volume":"43","author":"X Cao","year":"2006","unstructured":"Cao X, Eu KW, Kumarasinghe MP et al (2006) Mapping of hereditary mixed polyposis syndrome (HMPS) to chromosome 10q23 by genomewide high-density single nucleotide polymorphism (SNP) scan and identification of BMPR1A loss of function. J Med Genet 43:e13. https:\/\/doi.org\/10.1136\/jmg.2005.034827","journal-title":"J Med Genet"},{"key":"4118_CR23","doi-asserted-by":"publisher","first-page":"570","DOI":"10.1111\/j.1463-1318.2009.01931.x","volume":"12","author":"JM O\u2019Riordan","year":"2010","unstructured":"O\u2019Riordan JM, O\u2019Donoghue D, Green A et al (2010) Hereditary mixed polyposis syndrome due to a BMPR1A mutation. Colorectal Dis 12:570\u2013573. https:\/\/doi.org\/10.1111\/j.1463-1318.2009.01931.x","journal-title":"Colorectal Dis"},{"key":"4118_CR24","doi-asserted-by":"publisher","first-page":"30","DOI":"10.1053\/j.gastro.2006.03.046","volume":"131","author":"E Chow","year":"2006","unstructured":"Chow E, Lipton L, Lynch E et al (2006) Hyperplastic polyposis syndrome: phenotypic presentations and the role of MBD4 and MYH. Gastroenterology 131:30\u201339. https:\/\/doi.org\/10.1053\/j.gastro.2006.03.046","journal-title":"Gastroenterology"},{"key":"4118_CR25","doi-asserted-by":"publisher","first-page":"2014","DOI":"10.1053\/j.gastro.2008.09.020","volume":"135","author":"KS Boparai","year":"2008","unstructured":"Boparai KS, Dekker E, Van Eeden S et al (2008) Hyperplastic polyps and sessile serrated adenomas as a phenotypic expression of MYH-associated polyposis. Gastroenterology 135:2014\u20132018. https:\/\/doi.org\/10.1053\/j.gastro.2008.09.020","journal-title":"Gastroenterology"},{"key":"4118_CR26","doi-asserted-by":"publisher","first-page":"428","DOI":"10.5306\/wjco.v11.i7.428","volume":"11","author":"MC Curia","year":"2020","unstructured":"Curia MC, Catalano T, Aceto GM (2020) MUTYH: not just polyposis. World J Clin Oncol 11:428\u2013449. https:\/\/doi.org\/10.5306\/wjco.v11.i7.428","journal-title":"World J Clin Oncol"},{"key":"4118_CR27","doi-asserted-by":"publisher","first-page":"668","DOI":"10.1038\/ng.3287","volume":"47","author":"RDA Weren","year":"2015","unstructured":"Weren RDA, Ligtenberg MJL, Kets CM et al (2015) A germline homozygous mutation in the base-excision repair gene NTHL1 causes adenomatous polyposis and colorectal cancer. Nat Genet 47:668\u2013671. https:\/\/doi.org\/10.1038\/ng.3287","journal-title":"Nat Genet"},{"key":"4118_CR28","doi-asserted-by":"publisher","first-page":"231","DOI":"10.1111\/cge.14242","volume":"103","author":"CB Weatherill","year":"2023","unstructured":"Weatherill CB, Burke SA, Haskins CG et al (2023) Six case reports of NTHL1-associated tumor syndrome further support it as a multi-tumor predisposition syndrome. Clin Genet 103:231\u2013235. https:\/\/doi.org\/10.1111\/cge.14242","journal-title":"Clin Genet"},{"key":"4118_CR29","doi-asserted-by":"publisher","first-page":"9020","DOI":"10.1038\/s41598-019-45281-1","volume":"9","author":"S Belhadj","year":"2019","unstructured":"Belhadj S, Quintana I, Mur P et al (2019) NTHL1 biallelic mutations seldom cause colorectal cancer, serrated polyposis or a multi-tumor phenotype, in absence of colorectal adenomas. Sci Rep 9:9020. https:\/\/doi.org\/10.1038\/s41598-019-45281-1","journal-title":"Sci Rep"},{"key":"4118_CR30","doi-asserted-by":"publisher","first-page":"485","DOI":"10.1001\/jama.2012.8780","volume":"308","author":"S Grover","year":"2012","unstructured":"Grover S, Kastrinos F, Steyerberg EW et al (2012) Prevalence and phenotypes of APC and MUTYH mutations in patients with multiple colorectal adenomas. JAMA 308:485\u2013492. https:\/\/doi.org\/10.1001\/jama.2012.8780","journal-title":"JAMA"},{"key":"4118_CR31","doi-asserted-by":"publisher","first-page":"197","DOI":"10.1007\/s10689-021-00256-y","volume":"21","author":"C Palles","year":"2022","unstructured":"Palles C, Martin L, Domingo E et al (2022) The clinical features of polymerase proof-reading associated polyposis (PPAP) and recommendations for patient management. Fam Cancer 21:197\u2013209. https:\/\/doi.org\/10.1007\/s10689-021-00256-y","journal-title":"Fam Cancer"},{"key":"4118_CR32","doi-asserted-by":"publisher","first-page":"1533","DOI":"10.1038\/s41436-020-0828-z","volume":"22","author":"N Hamzaoui","year":"2020","unstructured":"Hamzaoui N, Alarcon F, Leulliot N et al (2020) Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction. Genet Med 22:1533\u20131541. https:\/\/doi.org\/10.1038\/s41436-020-0828-z","journal-title":"Genet Med"},{"key":"4118_CR33","doi-asserted-by":"publisher","first-page":"320","DOI":"10.1002\/ijc.29396","volume":"137","author":"I Spier","year":"2015","unstructured":"Spier I, Holzapfel S, Altm\u00fcller J et al (2015) Frequency and phenotypic spectrum of germline mutations in POLE and seven other polymerase genes in 266 patients with colorectal adenomas and carcinomas. Int J Cancer 137:320\u2013331. https:\/\/doi.org\/10.1002\/ijc.29396","journal-title":"Int J Cancer"},{"key":"4118_CR34","doi-asserted-by":"publisher","unstructured":"Gilad O, Rosner G, Fliss-Isakov N et al (2019) Clinical and histologic overlap and distinction among various hamartomatous polyposis syndromes. Clin Transl Gastroenterol 10:e00035. https:\/\/doi.org\/10.14309\/ctg.0000000000000035","DOI":"10.14309\/ctg.0000000000000035"},{"key":"4118_CR35","doi-asserted-by":"publisher","first-page":"1814","DOI":"10.1038\/s41379-019-0316-7","volume":"32","author":"J Borowsky","year":"2019","unstructured":"Borowsky J, Setia N, Rosty C et al (2019) Spectrum of gastrointestinal tract pathology in a multicenter cohort of 43 Cowden syndrome patients. Mod Pathol 32:1814\u20131822. https:\/\/doi.org\/10.1038\/s41379-019-0316-7","journal-title":"Mod Pathol"},{"key":"4118_CR36","doi-asserted-by":"publisher","first-page":"1235","DOI":"10.1038\/modpathol.2013.44","volume":"26","author":"JY Tse","year":"2013","unstructured":"Tse JY, Wu S, Shinagare SA et al (2013) Peutz-Jeghers syndrome: a critical look at colonic Peutz-Jeghers polyps. Mod Pathol 26:1235\u20131240. https:\/\/doi.org\/10.1038\/modpathol.2013.44","journal-title":"Mod Pathol"},{"key":"4118_CR37","doi-asserted-by":"publisher","first-page":"101792","DOI":"10.1016\/j.bpg.2022.101792","volume":"58\u201359","author":"G D\u2019Ermo","year":"2022","unstructured":"D\u2019Ermo G, Genuardi M (2022) Gastrointestinal manifestations in PTEN hamartoma tumor syndrome. Best Pract Res Clin Gastroenterol 58\u201359:101792. https:\/\/doi.org\/10.1016\/j.bpg.2022.101792","journal-title":"Best Pract Res Clin Gastroenterol"},{"key":"4118_CR38","doi-asserted-by":"publisher","first-page":"579","DOI":"10.1136\/jmg.2007.049981","volume":"44","author":"KL Lachlan","year":"2007","unstructured":"Lachlan KL, Lucassen AM, Bunyan D, Temple IK (2007) Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers. J Med Genet 44:579\u2013585. https:\/\/doi.org\/10.1136\/jmg.2007.049981","journal-title":"J Med Genet"},{"key":"4118_CR39","doi-asserted-by":"publisher","first-page":"702","DOI":"10.1136\/jmg.2007.052506","volume":"44","author":"S Aretz","year":"2007","unstructured":"Aretz S, Stienen D, Uhlhaas S et al (2007) High proportion of large genomic deletions and a genotype\u2013phenotype update in 80 unrelated families with juvenile polyposis syndrome. J Med Genet 44:702\u2013709. https:\/\/doi.org\/10.1136\/jmg.2007.052506","journal-title":"J Med Genet"},{"key":"4118_CR40","doi-asserted-by":"publisher","unstructured":"van Hattem WA, Brosens LAA, de Leng WWJ et al (2008) Large genomic deletions of SMAD4, BMPR1A and PTEN in juvenile polyposis. Gut 57:623\u2013627. https:\/\/doi.org\/10.1136\/gut.2007.142927","DOI":"10.1136\/gut.2007.142927"},{"key":"4118_CR41","doi-asserted-by":"publisher","first-page":"79","DOI":"10.1111\/j.1399-0004.2008.01091.x","volume":"75","author":"D Calva-Cerqueira","year":"2009","unstructured":"Calva-Cerqueira D, Chinnathambi S, Pechman B et al (2009) The rate of germline mutations and large deletions of SMAD4 and BMPR1A in juvenile polyposis. Clin Genet 75:79\u201385. https:\/\/doi.org\/10.1111\/j.1399-0004.2008.01091.x","journal-title":"Clin Genet"},{"key":"4118_CR42","doi-asserted-by":"publisher","first-page":"42","DOI":"10.1016\/j.ajhg.2010.11.013","volume":"88","author":"M-H Tan","year":"2011","unstructured":"Tan M-H, Mester J, Peterson C et al (2011) A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands. Am J Hum Genet 88:42\u201356. https:\/\/doi.org\/10.1016\/j.ajhg.2010.11.013","journal-title":"Am J Hum Genet"},{"key":"4118_CR43","doi-asserted-by":"publisher","first-page":"507","DOI":"10.1093\/hmg\/7.3.507","volume":"7","author":"DJ Marsh","year":"1998","unstructured":"Marsh DJ, Coulon V, Lunetta KL et al (1998) Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation. Hum Mol Genet 7:507\u2013515. https:\/\/doi.org\/10.1093\/hmg\/7.3.507","journal-title":"Hum Mol Genet"},{"key":"4118_CR44","doi-asserted-by":"publisher","first-page":"64","DOI":"10.1038\/ng0597-64","volume":"16","author":"D Liaw","year":"1997","unstructured":"Liaw D, Marsh DJ, Li J et al (1997) Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16:64\u201367. https:\/\/doi.org\/10.1038\/ng0597-64","journal-title":"Nat Genet"},{"key":"4118_CR45","doi-asserted-by":"publisher","first-page":"404","DOI":"10.1086\/377109","volume":"73","author":"X-P Zhou","year":"2003","unstructured":"Zhou X-P, Waite KA, Pilarski R et al (2003) Germline PTEN promoter mutations and deletions in Cowden\/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase\/Akt pathway. Am J Hum Genet 73:404\u2013411. https:\/\/doi.org\/10.1086\/377109","journal-title":"Am J Hum Genet"},{"key":"4118_CR46","doi-asserted-by":"publisher","first-page":"385","DOI":"10.1002\/ajmg.1320280217","volume":"28","author":"S Klemmer","year":"1987","unstructured":"Klemmer S, Pascoe L, DeCosse J (1987) Occurrence of desmoids in patients with familial adenomatous polyposis of the colon. Am J Med Genet 28:385\u2013392. https:\/\/doi.org\/10.1002\/ajmg.1320280217","journal-title":"Am J Med Genet"},{"key":"4118_CR47","doi-asserted-by":"publisher","first-page":"102","DOI":"10.1002\/1097-0215(20010320)95:2<102::aid-ijc1018>3.0.co;2-8","volume":"95","author":"L Bertario","year":"2001","unstructured":"Bertario L, Russo A, Sala P et al (2001) Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis. Int J Cancer 95:102\u2013107. https:\/\/doi.org\/10.1002\/1097-0215(20010320)95:2%3c102::aid-ijc1018%3e3.0.co;2-8","journal-title":"Int J Cancer"},{"key":"4118_CR48","doi-asserted-by":"publisher","unstructured":"Gurbuz AK, Giardiello FM, Petersen GM et al (1994) Desmoid tumours in familial adenomatous polyposis. Gut 35:377\u2013381. https:\/\/doi.org\/10.1136\/gut.35.3.377","DOI":"10.1136\/gut.35.3.377"},{"key":"4118_CR49","doi-asserted-by":"publisher","first-page":"94","DOI":"10.1097\/00000658-198607000-00014","volume":"204","author":"IT Jones","year":"1986","unstructured":"Jones IT, Jagelman DG, Fazio VW et al (1986) Desmoid tumors in familial polyposis coli. Ann Surg 204:94\u201397. https:\/\/doi.org\/10.1097\/00000658-198607000-00014","journal-title":"Ann Surg"},{"key":"4118_CR50","doi-asserted-by":"publisher","first-page":"367","DOI":"10.1016\/j.cgh.2006.10.019","volume":"5","author":"M Herraiz","year":"2007","unstructured":"Herraiz M, Barbesino G, Faquin W et al (2007) Prevalence of thyroid cancer in familial adenomatous polyposis syndrome and the role of screening ultrasound examinations. Clin Gastroenterol Hepatol 5:367\u2013373. https:\/\/doi.org\/10.1016\/j.cgh.2006.10.019","journal-title":"Clin Gastroenterol Hepatol"},{"key":"4118_CR51","doi-asserted-by":"publisher","first-page":"515","DOI":"10.1097\/SLA.0b013e3181fcba8a","volume":"253","author":"AM Jarrar","year":"2011","unstructured":"Jarrar AM, Milas M, Mitchell J et al (2011) Screening for thyroid cancer in patients with familial adenomatous polyposis. Ann Surg 253:515. https:\/\/doi.org\/10.1097\/SLA.0b013e3181fcba8a","journal-title":"Ann Surg"},{"key":"4118_CR52","doi-asserted-by":"publisher","first-page":"325","DOI":"10.1089\/thy.2014.0107","volume":"25","author":"X Feng","year":"2015","unstructured":"Feng X, Milas M, O\u2019Malley M et al (2015) Characteristics of benign and malignant thyroid disease in familial adenomatous polyposis patients and recommendations for disease surveillance. Thyroid 25:325\u2013332. https:\/\/doi.org\/10.1089\/thy.2014.0107","journal-title":"Thyroid"}],"container-title":["Virchows Archiv"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00428-025-04118-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s00428-025-04118-1","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s00428-025-04118-1.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,12,30]],"date-time":"2025-12-30T02:06:15Z","timestamp":1767060375000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s00428-025-04118-1"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,5,13]]},"references-count":52,"journal-issue":{"issue":"6","published-print":{"date-parts":[[2025,12]]}},"alternative-id":["4118"],"URL":"https:\/\/doi.org\/10.1007\/s00428-025-04118-1","relation":{},"ISSN":["0945-6317","1432-2307"],"issn-type":[{"type":"print","value":"0945-6317"},{"type":"electronic","value":"1432-2307"}],"subject":[],"published":{"date-parts":[[2025,5,13]]},"assertion":[{"value":"15 April 2025","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"15 April 2025","order":2,"name":"revised","label":"Revised","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"25 April 2025","order":3,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"13 May 2025","order":4,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"This study was performed with the approval of the Institutional Review Board of the University of Chicago Medicine (IRB16-1249).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval"}},{"value":"The authors declare no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interest"}}]}}