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
(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)
Please use this url to cite or link to this publication:
https://lup.lub.lu.se/record/1376111
- author
- Nilbert, Mef LU ; Kristoffersson, Ulf LU ; Ericsson, Mats ; Johannsson, Oskar ; Rambech, Eva LU and Mangell, Peter LU
- organization
- publishing date
- 2008
- type
- Contribution to journal
- publication status
- published
- subject
- in
- BMC Medical Genetics
- volume
- 9
- publisher
- BioMed Central (BMC)
- 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
- 2016-04-01 14:04:15
- date last changed
- 2022-01-27 22:39:08
@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 (BMC)}},
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}},
doi = {{10.1186/1471-2350-9-101}},
volume = {{9}},
year = {{2008}},
}