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
-
Laparoscopic Total Colectomy (TPC) for Familial Adenomatous Polyposis – A Case ReportA 30-year-old man was admitted with anem...
-
Familial Adenomatous Polyposis – An Introduction with VisualsThe main focus here is colorectal cancer...
-
APC Germline Mutations in Individuals Being Evaluated for Familial Adenomatous Polyposis: A Review of the Mayo Clini...Inactivating APC mutations cause familia...
-
Three Novel Mutations of the APC Gene in Korean Patients with Familial Adenomatous PolyposisGermline mutations within the adenomatou...
-
Familial Adenomatous Polyposis-Associated, Cribriform Morular Variant of Papillary Thyroid Carcinoma Harboring a K-R...BACKGROUND : The cribriform morular vari...
-
faces of blue: vanessa truogI am 36 years old. For the past six year...
-
Genetics, Inheritance and Strategies for Prevention in Populations at High Risk of Colorectal Cancer (CRC)Hereditary forms of colorectal cancer ac...