{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,13]],"date-time":"2025-11-13T12:14:57Z","timestamp":1763036097911},"reference-count":25,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T00:00:00Z","timestamp":1137024000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2006,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Gardner syndrome is characterized by the triad of colorectal adenomas, soft and hard tissue tumors. This disorder was regarded as a separate disease until the identification of the <jats:italic>APC<\/jats:italic> gene when it was recognized that mutations in the <jats:italic>APC<\/jats:italic> gene were the underlying cause of both Gardner syndrome and familial adenomatous polyposis (FAP). The present study aimed at examining whether a particular <jats:italic>APC<\/jats:italic> genotype could be delineated in FAP patients with benign extracolonic manifestations: sebaceous cysts and\/or osteomas. A questionnaire was sent to all Danish FAP patients (N\u2009=\u2009234) asking for occurrence of sebaceous cysts and palpable osteomas. Medical records later verified positive findings, when possible. The results for each patient were correlated to the position of his or her mutation in the <jats:italic>APC<\/jats:italic> gene. Positive participation compliance was 77% (N\u2009=\u2009180), and in 105 of these patients the pathogenic <jats:italic>APC<\/jats:italic> mutation was known. Palpable osteomas were reported in 17 of the patients in whom a pathogenic mutation had been identified. Osteomas were only identified in patients with mutations between codon 767 and 1513, a gene area also associated with congenital hypertrophy of the retinal\u2010pigmented epithelium (CHRPE) and hepatoblastoma. Sebaceous cysts were reported in 51% of the patients, and their <jats:italic>APC<\/jats:italic> mutations were evenly distributed in the gene with no particular hotspot. Osteomas appeared most frequently in patients with sebaceous cysts, odds ratio 6.6, <jats:italic>P<\/jats:italic>\u2009&lt;\u20090.001. The study provides molecular evidence that Gardner syndrome is a variant of FAP and essentially obsolete in clinical practice. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31010","type":"journal-article","created":{"date-parts":[[2006,1,12]],"date-time":"2006-01-12T23:16:32Z","timestamp":1137107792000},"page":"200-204","source":"Crossref","is-referenced-by-count":56,"title":["Familial adenomatous polyposis (FAP): Genotype correlation to FAP phenotype with osteomas and sebaceous cysts"],"prefix":"10.1002","volume":"140A","author":[{"given":"Marie Luise","family":"Bisgaard","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steffen","family":"B\u00fclow","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,1,12]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02554355"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.1380030206"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.2003.019042"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.9234"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9394(14)75133-5"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/328614a0"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1136\/gut.52.5.742"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.3.337"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02281864"},{"key":"e_1_2_7_11_1","first-page":"139","article-title":"Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis","volume":"5","author":"Gardner EJ","year":"1953","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(81)90021-0"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-9822(98)70226-X"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.1848370"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.273.18.10823"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1002\/bjs.1800620515"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199003293221306"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(00)95996-8"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/1.4.229"},{"key":"e_1_2_7_20_1","first-page":"4055","article-title":"Correlation between the location of germ\u2010line mutations in the APC gene and the number of colorectal polyps in familial adenomatous polyposis patients","volume":"52","author":"Nagase H","year":"1992","journal-title":"Cancer Res"},{"key":"e_1_2_7_21_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90539-3"},{"key":"e_1_2_7_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90539-3"},{"key":"e_1_2_7_23_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200853"},{"key":"e_1_2_7_24_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.97.7.3352"},{"key":"e_1_2_7_25_1","first-page":"92","article-title":"Linkage of a variant or attenuated form of adenomatous polyposis coli to the adenomatous polyposis coli (APC) locus","volume":"51","author":"Spirio L","year":"1992","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_26_1","first-page":"14","article-title":"Molecular analysis of the APC gene in 205 families: Extended genotype\u2013phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition","volume":"36","author":"Wallis YL","year":"1999","journal-title":"J Med Genet"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.31010","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31010","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,12]],"date-time":"2023-10-12T22:41:02Z","timestamp":1697150462000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31010"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,1,12]]},"references-count":25,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2006,2]]}},"alternative-id":["10.1002\/ajmg.a.31010"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31010","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,1,12]]}}}