welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
A New Germline Stop Codon Mutation in Exon 15 of the APC Gene Predisposing to Familial Adenomatous Polyposis
source: The International journal of biological markers
year: 2013
authors: Laura Schirosi, Marcello Pellegrino, Paolo Tarantino, Salvatore Mauro, Marilena Greco, Andrea Tinelli
summary/abstract:Familial adenomatous polyposis (FAP) is an autosomal dominant disorder related to germline mutations of the adenomatous polyposis coli (APC) gene. It is characterized by the detection of numerous adenomatous polyps that, if untreated, develop into colorectal cancer. We studied an Italian family with FAP history and the related colorectal tumor sample of the proband. Sequencing analysis of blood samples revealed the presence of a never-reported germline mutation in the APC gene (exon 15): an heterozygous G deletion at position c.2126 resulting in a premature stop codon (p.Gly721GlufsX6) and in a truncated protein. This mutation was also identified in the colorectal tumor tissue, together with a second known pathogenic heterozygotic somatic mutation, c.4348C>T (p.Arg1450X), which generates a premature truncated protein. The novel identified germline mutation is therefore related to FAP and, in accordance with Knudson’s “two hit” hypothesis, can be considered the first event predisposing to the insurgence of colorectal cancer in these patients. The somatic hit inactivating the second allele of the APC gene is located in the mutation cluster region of the gene; this is not a random event since it depends on the position of the germline mutation. The inactivation of APC generates the neoplastic growth advantage to the cell.
organization: Lecce HospitalDOI: 10.5301/jbm.5000042
read more full text source
expertly curated content related to this topic
-
Adenomatous Polyposis Syndromeshttps://www.youtube.com/watch?v=pFn-A2jZ...
-
MutY, E. Coli, Homolog of; MUTYHA summary of mutY/MYH/MUTYH...
-
Familial Adenomatous Polyposis (FAP)An overview of FAP and literature analys...
-
Increased MuTYH Mutation Frequency Among Dutch Families With Breast cancer and Colorectal CancerHomozygous and compound heterozygous MUT...
-
Familial Adenomatous Polyposis 1This description of FAP1 discusses clini...
-
Different Phenotype Manifestation of Familial Adenomatous Polyposis in Families with APC Mutation at Codon 1309Germline mutation in APC gene induced de...