welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
Mutational Spectrum of APC and Genotype-Phenotype Correlations in Greek FAP Patients
source: BMC cancer
year: 2010
authors: Fostira F, Thodi G, Sandaltzopoulos R, Fountzilas G, Yannoukakos D
summary/abstract:BACKGROUND : Familial adenomatous polyposis, an autosomal dominant inherited disease caused by germline mutations within the APC gene, is characterized by early onset colorectal cancer as a consequence of the intrinsic phenotypic feature of multiple colorectal adenomatic polyps. The genetic investigation of Greek adenomatous polyposis families was performed in respects to APC and MUTYH germline mutations. Additionally, all available published mutations were considered in order to define the APC mutation spectrum in Greece.
METHODS : A cohort of 25 unrelated adenomatous polyposis families of Greek origin has been selected. Genetic testing included direct sequencing of APC and MUTYH genes. APC gene was also checked for large genomic rearrangements by MLPA.
RESULTS : Analysis of the APC gene performed in a Greek cohort of twenty five FAP families revealed eighteen different germline mutations in twenty families (80%), four of which novel. Mutations were scattered between exon 3 and codon 1503 of exon 15, while no large genomic rearrangements were identified.
CONCLUSION : This concise report describes the spectrum of all APC mutations identified in Greek FAP families, including four novel mutations. It is concluded that the Greek population is characterized by genetic heterogeneity, low incidence of genomic rearrangements in APC gene and lack of founder mutation in FAP syndrome.
organization: National Center of Scientific Research DemokritosDOI: 10.1186/1471-2407-10-389
read more full text source
expertly curated content related to this topic
-
Hereditary Colorectal Cancer Syndromes: American Society of Clinical Oncology Clinical Practice Guideline Endorsemen...Purpose: To provide recommendations on ...
-
Rectal Eversion and Double-Stapled Ileal Pouch Anal Anastomosis in Familial Adenomatous Polyposis SyndromeINTRODUCTION : Surgery is the only treat...
-
Familial Adenomatous Polyposis-Associated Papillary Thyroid CancerPapillary thyroid carcinoma (PTC) associ...
-
Disease Severity and Genetic Pathways in Attenuated Familial Adenomatous Polyposis vary Greatly but Depend on the Si...BACKGROUND: Attenuated familial adenoma...
-
The Pathology of Hereditary Polyposis SyndromesOur understanding of the genetics and pa...
-
MUTYH Gene (Protein Coding)Genetic data for MUTYH...
-
How to Defy a Hereditary Predisposition and Prevent Colon Cancerhttps://www.youtube.com/watch?v=IynYbT2i...