Author(s): Nielsen M, Morreau H, Vasen HF, Hes FJ
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Abstract 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. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.
This article was published in Crit Rev Oncol Hematol
and referenced in Hereditary Genetics: Current Research