Sampson, Julian Roy ![]() ![]() ![]() |
Abstract
MAP (MutYH-associated polyposis) is a recently described colorectal adenoma and carcinoma predisposition syndrome that is associated with biallelic-inherited mutations of the human MutY homologue gene, MutYH. MutYH is often also termed MYH. MAP tumours display a mutational signature of somatic guanine-to-thymine transversion mutations in the adenomatous polyposis coli and K-ras genes, reflecting the normal role of MutYH in the base excision repair of adenines misincorporated opposite 7,8-dihydro-8-oxoguanine, a prevalent and stable product of oxidative damage to DNA. However, the full genetic pathway of MAP tumorigenesis has not been elucidated.
Item Type: | Article |
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Date Type: | Publication |
Status: | Published |
Schools: | Medicine |
Subjects: | Q Science > QH Natural history > QH426 Genetics R Medicine > RC Internal medicine > RC0254 Neoplasms. Tumors. Oncology (including Cancer) |
Uncontrolled Keywords: | adenomatous polyposis coli (APC), colorectal cancer, familial adenomatous polyposis (FAP), MutYH (MYH), MutYH-associated polyposis (MAP) |
Publisher: | Portland Press |
ISSN: | 0300-5127 |
Last Modified: | 25 Oct 2022 09:46 |
URI: | https://orca.cardiff.ac.uk/id/eprint/59928 |
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