Article
MBD4-associated neoplasia syndrome: screening of cases with suggestive phenotypes.
European journal of human genetics : EJHG - 1 Oct 2023
Terradas Mariona, Gonzalez-Abuin Noemi, García-Mulero Sandra, Viana-Errasti Julen, Aiza Gemma, Piulats Josep M, Brunet Joan, Capellá Gabriel, Valle Laura
Abstract excerpt
Germline mutations in MBD4, which, like MUTYH and NTHL1, encodes a glycosylase of the DNA based excision repair system, cause an autosomal recessive syndrome characterised by increased risk of acute myeloid leukaemia, gastrointestinal polyposis, colorectal cancer (CRC) and, to a lesser extent, uveal melanoma and schwannomas. To better define the phenotypic spectrum and tumour molecular features associated with...
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