welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
Genotype to Phenotype: Analyzing the Effects of Inherited Mutations in Colorectal Cancer Families
source: Mutation research
year: 2010
authors: Heinen C D
summary/abstract:With improvements to DNA sequencing technologies, including the advent of massively parallel sequencing to perform “deep sequencing” of tissue samples, the ability to determine all of the nucleotide variations in a tumor becomes a possibility. This information will allow us to more fully understand the heterogeneity within each tumor, as well as to identify novel genes involved in cancer development. However, the new challenge that arises will be to interpret the pathogenic significance of each genetic variant. The enormity and complexity of this challenge can be demonstrated by focusing on just the genes involved in the hereditary colon cancer syndromes, familial adenomatous polyposis (FAP) and hereditary non-polyposis coli (HNPCC). The genes responsible for each disease were identified almost two decades ago -APC for FAP and the MMR genes for HNPCC – and a large number of germline variations have been identified in these genes in hereditary cancer patients. However, relating the effect of an individual genotype to phenotype is not always straightforward. This review focuses on the roles of the APC and MMR genes in tumor development and the work that has been done to relate different variants in each gene to functional aberrations and ultimately tumorigenesis. By considering the work that has already been done on two well-defined diseases with clear genetic associations, one can begin to understand the challenges that lie ahead as new genes and gene mutations are discovered through tumor sequencing.
organization: University of Connecticut Health CenterDOI: 10.1016/j.mrfmmm.2009.09.004
read more full text source
expertly curated content related to this topic
-
Magnified Endoscopic Observation Using Narrow-Band Imaging of Periampullary Adenoma in a Patient with Familial Adeno...BACKGROUND : Adenoma of the major papill...
-
So, When Should You Actually Start Getting Colonoscopies?Colonoscopies help doctors find ulcers, ...
-
Progression to Advanced Neoplasia is Infrequent in Post Colectomy Familial Adenomatous Polyposis Patients Under Endo...BACKGROUND AND STUDY AIMS : Advanced neo...
-
MutYH-Associated Colon Disease: Adenomatous Polyposis is Only One of the Possible Phenotypes; A Family Report and Li...AIMS AND BACKGROUND: The MutY human hom...
-
Myh-Associated Polyposis (Approved by the Cancer.Net Editorial Board)MYH-associated polyposis (MAP) is a here...
-
Surveillance and Treatment of Duodenal Adenomatosis in Familial Adenomatous PolyposisBACKGROUND AND STUDY AIMS : Patients wit...
-
Disease Severity and Genetic Pathways in Attenuated Familial Adenomatous Polyposis vary Greatly but Depend on the Si...BACKGROUND: Attenuated familial adenoma...