welcome to oneFAPvoice
- a positively charged Familial Adenomatous Polyposis community.- join today!
- login
Detection of Genetic Alterations in Hereditary Colorectal Cancer Screening
source: Mutation research
year: 2010
authors: Pineda M, González S, Lázaro C, Blanco I, Capellá G
summary/abstract:There are two major hereditary colorectal cancer syndromes: Adenomatous Polyposis, secondary to APC germline alterations (FAP, Familial Adenomatous Polyposis) or secondary to MUTYH germline alterations (MAP, MUTYH associated Polyposis), and Lynch syndrome, associated with germline mutations in mismatch repair genes (MLH1, MSH2, MSH6 and PMS2). The elucidation of their genetic basis has depicted an increasingly complex picture that has lead to the implementation of complex diagnostic algorithms that include both tumor profiling and germline analyses. A variety of techniques at the DNA, RNA and protein level are used to screen for molecular alterations both in tumor biopsies (microsatellite instability analysis, mismatch repair protein immunohistochemistry, BRAF-Val600Glu detection and MLH1 promoter hypermethylation analysis) and in the germline (point mutation screening, copy number assessment). Also functional tests are more often used to characterize variants of unknown significance. Methodological issues associated with the techniques analyzed, as well as the algorithms used, are discussed.
organization: Av. Gran Via de l'HospitaletDOI: 10.1016/j.mrfmmm.2009.11.002
read more full text source
expertly curated content related to this topic
-
Familial Adenomatous Polyposis – Genetics Home ReferenceFamilial Adenomatous Polyposis (FAP) is ...
-
Protein-losing enteropathy in a patient with familial adenomatous polyposis and advanced colon cancerAbstract A 29-year-old female visited...
-
Familial Polyposis and Lynch Syndrome Review March 2014http://www.slideshare.net/douglasriegert...
-
Screening and Surveillance of the Early Detection of Colorectal Cancer and Adenomatous PolypsIn the United States, colorectal cancer ...
-
The Johns Hopkins Guide for Patients and Families: Familial Adenomatous PolyposisINTRODUCTION This booklet is written fo...
-
The Role of Endoscopy in the Management of Premalignant and Malignant Conditions of the StomachThis is one of a series of statements di...
-
Familial Adenomatous Polyposis: Johns Hopkins Guide to the Diagnosis, Treatment and Prevention of ConditionMany patients with colorectal cancer exp...