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
-
New Research Verifies TASINs as Viable Target for Colon Cancer TherapiesA small molecule called TASIN-1 can sele...
-
The Wnt/Beta-Catenin Pathway and Familial Adenomatous Polyposis Part 2https://www.youtube.com/watch?v=p2mWc0IG...
-
Familial Adenomatous PolyposisFamilial adenomatous polyposis (FAP) is ...
-
Inherited Colorectal Cancer Syndromes – Diagnosis and ManagemntColorectal cancer is the most common gas...
-
Colon in Familial Adenomatous Polyposishttps://c1.staticflickr.com/3/2443/37455...
-
Role of the Microenvironment in the Tumourigenesis of Microsatellite Unstable and MutYH-Associated Polyposis Colorec...Two forms of genomic instability can be ...
-
Risk Factors Predicting Desmoid Occurrence in Patients With Familial Adenomatous Polyposis: A Meta-analysisAIM: Desmoid tumours (DT) are myofibrob...