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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

Nilbert, Mef LU ; Kristoffersson, Ulf LU ; Ericsson, Mats; Johannsson, Oskar; Rambech, Eva LU and Mangell, Peter LU (2008) In BMC Medical Genetics 9.
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... (More)
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_5031 insAA) 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. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
in
BMC Medical Genetics
volume
9
publisher
BioMed Central
external identifiers
  • wos:000262254800001
  • scopus:58149105422
ISSN
1471-2350
DOI
10.1186/1471-2350-9-101
language
English
LU publication?
yes
id
819da587-f6ad-4deb-8f14-3cd8942a38db (old id 1376111)
date added to LUP
2009-05-08 12:05:14
date last changed
2017-03-26 03:57:21
@article{819da587-f6ad-4deb-8f14-3cd8942a38db,
  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_5031 insAA) 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.},
  author       = {Nilbert, Mef and Kristoffersson, Ulf and Ericsson, Mats and Johannsson, Oskar and Rambech, Eva and Mangell, Peter},
  issn         = {1471-2350},
  language     = {eng},
  publisher    = {BioMed Central},
  series       = {BMC Medical Genetics},
  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},
  url          = {http://dx.doi.org/10.1186/1471-2350-9-101},
  volume       = {9},
  year         = {2008},
}