Article
Functional annotation and investigation of the 10q24.33 melanoma risk locus identifies a common variant that influences transcriptional regulation of OBFC1.
Human molecular genetics - 21 Mar 2022
Cardinale Antonella, Cantalupo Sueva, Lasorsa Vito Alessandro, Montella Annalaura, Cimmino Flora, Succoio Mariangela, Vermeulen Michiel, Baltissen Marijke P, Esposito Matteo, Avitabile Marianna, Formicola Daniela, Testori Alessandro, Bonfiglio Ferdinando, Ghiorzo Paola, Scalvenzi Massimiliano, Ayala Fabrizio, Zambrano Nicola, Iles Mark M, Xu Mai, Law Matthew H, Brown Kevin M, Iolascon Achille, Capasso Mario
Abstract excerpt
The 10q24.33 locus is known to be associated with susceptibility to cutaneous malignant melanoma (CMM), but the mechanisms underlying this association have been not extensively investigated. We carried out an integrative genomic analysis of 10q24.33 using epigenomic annotations and in vitro reporter gene assays to identify regulatory variants. We found two putative functional single nucleotide polymorphisms...
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