welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
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
source: BMC medical genetics
year: 2008
authors: Nilbert M, Kristoffersson U, Ericsson M, Johannsson O, Rambech E, Mangell P
summary/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.
organization: Lund UniversityDOI: 10.1186/1471-2350-9-101
read more full text source
expertly curated content related to this topic
-
MutY, E. Coli, Homolog of; MUTYHA summary of mutY/MYH/MUTYH...
-
Inherited Colorectal CancerFamilial adenomatous polyposis (FAP) is ...
-
Gender-Specific Aspects of Lynch Syndrome and Familial Adenomatous PolyposisBACKGROUND: The most frequent hereditar...
-
A de novo Germline APC mutation (3927del5) in a Patient with Familial Adenomatous Polyposis: Case Report and Literat...INTRODUCTION : Characterized by the deve...
-
FAP Associated Thyroid Carcinoma in Mother and her DaughterA 21 year-old Japanese female was referr...
-
Three Novel Mutations of the APC Gene in Korean Patients with Familial Adenomatous PolyposisGermline mutations within the adenomatou...
-
Defining the Overlap between Sporadic and Attenuated Familial Adenoma RiskPoster Presentation Background: Muta...