Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.

2.50
Hdl Handle:
http://hdl.handle.net/2336/50214
Title:
Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.
Authors:
Nilbert, Mef; Kristoffersson, Ulf; Ericsson, Mats; Johannsson, Oskar; Rambech, Eva; Mangell, Peter
Citation:
BMC Med. Genet. 2008, 9:101
Issue Date:
1-Nov-2008
Abstract:
BACKGROUND: Familial adenomatous polyposis (FAP) is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the APC gene mutation, possible genotype-phenotype correlations largely remain to be defined for the extracolonic manifestations. METHODS: Full genomic sequencing combined with multiplex ligation-dependent probe amplification was used to identify APC gene mutations, which were correlated to the clinical presentations. RESULTS: 10 novel APC gene mutations were identified in 11 families. A broad spectrum of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC) both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'APC mutation (c.5030_5031insAA) developed colon cancer at age 72 as the first manifestation of attenuated FAP. CONCLUSION: With an increasing number of FAP families diagnosed, a broad and variable tumor spectrum and a high frequency of extracolonic manifestations are gradually recognized. We report novel APC mutations and present two FAP cases that suggest familial aggregation of thyroid cancer and demonstrate the need to consider attenuated FAP also among elderly patients with colon cancer.
Description:
To access publisher full text version of this article. Please click on the hyperlink in Additional Links field
Additional Links:
http://www.biomedcentral.com/1471-2350/9/101

Full metadata record

DC FieldValue Language
dc.contributor.authorNilbert, Mef-
dc.contributor.authorKristoffersson, Ulf-
dc.contributor.authorEricsson, Mats-
dc.contributor.authorJohannsson, Oskar-
dc.contributor.authorRambech, Eva-
dc.contributor.authorMangell, Peter-
dc.date.accessioned2009-02-24T09:53:41Z-
dc.date.available2009-02-24T09:53:41Z-
dc.date.issued2008-11-01-
dc.date.submitted2009-02-24-
dc.identifier.citationBMC Med. Genet. 2008, 9:101en
dc.identifier.pmid19036155-
dc.identifier.doi10.1186/1471-2350-9-101-
dc.identifier.urihttp://hdl.handle.net/2336/50214-
dc.descriptionTo access publisher full text version of this article. Please click on the hyperlink in Additional Links fielden
dc.description.abstractBACKGROUND: Familial adenomatous polyposis (FAP) is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the APC gene mutation, possible genotype-phenotype correlations largely remain to be defined for the extracolonic manifestations. METHODS: Full genomic sequencing combined with multiplex ligation-dependent probe amplification was used to identify APC gene mutations, which were correlated to the clinical presentations. RESULTS: 10 novel APC gene mutations were identified in 11 families. A broad spectrum of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC) both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'APC mutation (c.5030_5031insAA) developed colon cancer at age 72 as the first manifestation of attenuated FAP. CONCLUSION: With an increasing number of FAP families diagnosed, a broad and variable tumor spectrum and a high frequency of extracolonic manifestations are gradually recognized. We report novel APC mutations and present two FAP cases that suggest familial aggregation of thyroid cancer and demonstrate the need to consider attenuated FAP also among elderly patients with colon cancer.en
dc.language.isoenen
dc.publisherBioMed Centralen
dc.relation.urlhttp://www.biomedcentral.com/1471-2350/9/101en
dc.subject.meshAdenomatous Polyposis Colien
dc.subject.meshAdolescenten
dc.subject.meshAdulten
dc.subject.meshAge of Onseten
dc.subject.meshAgeden
dc.subject.meshExonsen
dc.subject.meshFemaleen
dc.subject.meshGenes, APCen
dc.subject.meshGenotypeen
dc.subject.meshHumansen
dc.subject.meshMaleen
dc.subject.meshMiddle Ageden
dc.subject.meshMutationen
dc.subject.meshPhenotypeen
dc.subject.meshYoung Adulten
dc.titleBroad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72.en
dc.typeArticleen
dc.identifier.eissn1471-2350-
dc.contributor.departmentDepartment of Oncology, Institute of Clinical Sciences, Lund University, Sweden. mef.nilbert@med.lu.seen
dc.identifier.journalBMC medical geneticsen

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