MUTYH-associated polyposis (MAP).
The human mutY homologue (MUTYH) gene is responsible for inheritable polyposis and colorectal cancer. This review discusses the molecular genetic aspects of the MUTYH gene and protein, the clinical impact of mono- and biallelic MUTYH mutations and histological aspects of the MUTYH tumors. Furthermore, the relationship between MUTYH and the mismatch repair genes in colorectal cancer (CRC) families is examined. Finally, the role of other base excision repair genes in polyposis and CRC patients is discussed.
Nielsen
Maartje
M
Department Clinical Genetics, Leiden University Medical Centre, Albinusdreef, Leiden, The Netherlands. m.nielsen@lumc.nl
Morreau
Hans
H
Vasen
Hans F A
HF
Hes
Frederik J
FJ
D011125:Adenomatous Polyposis Coli / Q000235:genetics*; D015179:Colorectal Neoplasms / Q000235:genetics*; D045647:DNA Glycosylases / Q000235:genetics*; D006801:Humans; D009154:Mutation
D045647:DNA Glycosylases; C061738:mutY adenine glycosylase