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dc.contributor.authorStormorken, Astrid T.
dc.contributor.authorBerg, Thomas
dc.contributor.authorNorum, Ole-Jacob Anderssen
dc.contributor.authorHølmebakk, Toto
dc.contributor.authorÅberg, Kristin
dc.contributor.authorSteigen, Sonja Eriksson
dc.contributor.authorGrindedal, Eli Marie
dc.date.accessioned2019-02-22T09:11:09Z
dc.date.available2019-02-22T09:11:09Z
dc.date.issued2018-01-24
dc.description.abstractFamilial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas and desmoids. Most desmoid tumours in FAP patients occur intra-abdominally. Approximately 15–20% of the APC mutations are de novo mutations. Somatic mosaicism has been reported in some sporadic cases of polyposis but is probably an underestimated cause of the disease. This case report presents the detection of a mosaic APC mutation in a 26-year-old woman who as a child had been diagnosed with desmoid type fibromatosis. FAP was suggested when she presented with extensive extra abdominal fibromatosis. Our findings indicate that APC mutations may be suspected in patients presenting with a desmoid regardless of its location. If there is clinical evidence that the patient has FAP, adenomas and colonic mucosa in addition to leukocyte DNA should be included in the screening, preferably using methods that are more sensitive than Sanger sequencing.en_US
dc.descriptionSource at <a href=https://doi.org/10.1007/s10689-018-0072-8> https://doi.org/10.1007/s10689-018-0072-8</a>.en_US
dc.identifier.citationStormorken, A.T., Berg, T., Norum, O.N., Hølmebakk, T., Åberg, K., Steigen, S.E. & Grindedal, E.M. (2018). APC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposis. <i>Familial Cancer, 17</i>(4), 539–543. https://doi.org/10.1007/s10689-018-0072-8en_US
dc.identifier.cristinIDFRIDAID 1591909
dc.identifier.doi10.1007/s10689-018-0072-8
dc.identifier.issn1389-9600
dc.identifier.issn1573-7292
dc.identifier.urihttps://hdl.handle.net/10037/14747
dc.language.isoengen_US
dc.publisherSpringeren_US
dc.relation.journalFamilial Cancer
dc.rights.accessRightsopenAccessen_US
dc.subjectVDP::Medical disciplines: 700::Basic medical, dental and veterinary science disciplines: 710en_US
dc.subjectVDP::Medisinske Fag: 700::Basale medisinske, odontologiske og veterinærmedisinske fag: 710en_US
dc.subjectDesmoid type fibromatosisen_US
dc.subjectFamilial adenomatous polyposisen_US
dc.subjectAPC geneen_US
dc.subjectMosaicismen_US
dc.subjectDesmoidsen_US
dc.subjectVDP::Medical disciplines: 700::Clinical medical disciplines: 750::Oncology: 762en_US
dc.subjectVDP::Medisinske Fag: 700::Klinisk medisinske fag: 750::Onkologi: 762en_US
dc.titleAPC mosaicism in a young woman with desmoid type fibromatosis and familial adenomatous polyposisen_US
dc.typeJournal articleen_US
dc.typeTidsskriftartikkelen_US
dc.typePeer revieweden_US


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