Introduction to molecular and clinical genetics of colorectal cancer syndromes.
The understanding of molecular genetics in the field of gastroenterology has rapidly grown over the last two decades. In recent years many genes involved in the disorders of the gastrointestinal (GI) tract such as colorectal cancer (CRC) and inflammatory bowel disease have been identified. The elucidation of the molecular genetics of these diseases made it possible to study the high-penetrance susceptibility genes for disease-causing mutations with direct implications for relatives of affected individuals. The most immediate application of these advances is the opportunity of pre-symptomatic diagnosis in relatives of affected individuals by molecular genetic testing. In this article, the most commonly employed mutation detection procedures; the outcome and use of these tests in clinical practice are discussed. We focus on the three most common hereditary colorectal cancer syndromes (CCS): Lynch syndrome, familial adenomatous polyposis and MUTYH-associated polyposis.
Centre for Human and Clinical Genetics, LUMC, Leiden, P.O. Box 9600, S06, 2300 RC Leiden, The Netherlands. c.m.j.tops@lumc.nl
Carli M J
CM
Tops
Juul Th
JT
Wijnen
Frederik J
FJ
Hes
D011125:Adenomatous Polyposis Coli / Q000175:diagnosis* / Q000235:genetics; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis* / Q000235:genetics; D045647:DNA Glycosylases / Q000235:genetics; D004252:DNA Mutational Analysis; D055088:Early Detection of Cancer; D015972:Gene Expression Regulation, Neoplastic; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing; D006801:Humans; D009154:Mutation; D018579:Patient Selection; D010375:Pedigree; D011237:Predictive Value of Tests
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase