Cells with pathogenic biallelic mutations in the human MUTYH gene are defective in DNA damage binding and repair.
Inherited biallelic mutations in the human MUTYH gene are responsible for the recessive syndrome--adenomatous colorectal polyposis (MUTYH associated polyposis, MAP)--which significantly increases the risk of colorectal cancer (CRC). Defective MUTYH activity causes G:C to T:A transversions in tumour...
Hlavní autoři: | Parker, A, Sieber, O, Shi, C, Hua, L, Takao, M, Tomlinson, I, Eshleman, JR |
---|---|
Médium: | Journal article |
Jazyk: | English |
Vydáno: |
2005
|
Podobné jednotky
-
Identifying colorectal cancer caused by biallelic MUTYH pathogenic variants using tumor mutational signatures
Autor: Peter Georgeson, a další
Vydáno: (2022-06-01) -
Investigation of pathogenic mechanisms in multiple colorectal adenoma patients without germline APC or MYH/MUTYH mutations.
Autor: Thirlwell, C, a další
Vydáno: (2007) -
Regulation of oxidative DNA damage repair by DNA polymerase λ and MutYH by cross-talk of phosphorylation and ubiquitination.
Autor: Markkanen, E, a další
Vydáno: (2012) -
Base excision repair and the role of <it>MUTYH</it>
Autor: Kairupan Carla, a další
Vydáno: (2007-12-01) -
A Specific Mutational Signature Associated with DNA 8-Oxoguanine Persistence in MUTYH-defective Colorectal Cancer
Autor: Alessandra Viel, a další
Vydáno: (2017-06-01)