title: Melanoma's high C>T mutation rate: is deamination playing a role?
abstract: The majority of melanoma mutations are C>T transitions, and most bear UV signatures. However, other process may contribute to the high C>T mutation rate. Okura et al., have demonstrated immunohistochemical evidence of deaminating enzymes, activation-induced cytidine deaminase (AID) and apolipoprotein B mRNA-editing enzyme catalytic polypeptide-like 3B (APOBEC3B) in melanoma. Both have been implicated in cancer. While further validation is necessary, these findings warrant consideration of a role for deamination in melanomagenesis. Deamination primarily drives C>T transitions. Compared with trunk/extremity melanomas, acral melanomas display a significantly higher percentage of 'spontaneous' and 'AID' mutation signature events suggesting deamination may be particularly important in this subgroup.
authors.affiliation: Department of Dermatology and Cutaneous Surgery, University of Miami Miller School of Medicine, Miami, FL, USA; Sylvester Comprehensive Cancer Center, University of Miami Miller School of Medicine, Miami, FL, USA; Interdisciplinary Stem Cell Institute, University of Miami Miller School of Medicine, Miami, FL, USA.
authors.forename: Margaret I
authors.initials: MI
authors.lastname: Sanchez
authors.forename: James M
authors.initials: JM
authors.lastname: Grichnik
mesh_terms: D003564:Cytidine Deaminase / Q000378:metabolism; D003641:Deamination / Q000235:genetics*; D015972:Gene Expression Regulation, Neoplastic; D006801:Humans; D008545:Melanoma / Q000235:genetics* / Q000378:metabolism; D015778:Minor Histocompatibility Antigens; D009154:Mutation / Q000235:genetics*; D048493:Proto-Oncogene Proteins B-raf / Q000235:genetics; D012878:Skin Neoplasms / Q000235:genetics* / Q000378:metabolism
chemical_list: D015778:Minor Histocompatibility Antigens; C482119:BRAF protein, human; D048493:Proto-Oncogene Proteins B-raf; C495794:APOBEC3B protein, human; D003564:Cytidine Deaminase
keywords: BRAF; deaminase; melanoma; mutagenesis