Genetic testing in inherited polyposis syndromes - how and why?
G H Lee1, S J Payne, A Melville
1The Polyposis Registry, St Mark's Hospital, Harrow, UK; Department of Surgery and Cancer, Imperial College London, London, UK.
Abstract:
There have been recent advances in genetic testing enabling accurate diagnosis of polyposis syndromes by identifying causative gene mutations, which is essential in the management of individuals with polyposis syndrome and predictive genetic testing of their extended families. There are some similarities in clinical presentation of various polyposis syndromes, which may pose a challenge to diagnosis. In this review, we discuss the clinical presentation of the main polyposis syndromes and the process of genetic testing, including the latest advancement and future of genetic testing. We aim to reiterate the importance of genetic testing in the management of polyposis syndromes, potential pitfalls associated with genetic testing and recommendations for healthcare professionals involved with the care of polyposis patients.
More Related Videos
05:51A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
08:15gDNA Enrichment by a Transposase-based Technology for NGS Analysis of the Whole Sequence of BRCA1, BRCA2, and 9 Genes Involved in DNA Damage Repair
Published on: October 6, 2014
Related Concept Videos
Pedigree Analysis
Pedigree Analysis
Pleiotropy
Pharmacogenomics: Identification of New Drug Targets
Genome-wide Association Studies-GWAS
GWAS does not require the identification of the target gene involved in...
Genomic Imprinting and Inheritance
The expression of some genes depends on which parent passed the gene to the offspring, through a phenomenon known as...
