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Genomic Characterization of Dysplastic Nevi Unveils Implications for Diagnosis of Melanoma
Rachel D. Melamed, Iraz T. Aydin, Geena Susan Rajan, Robert Phelps, David N. Silvers, Kevin J. Emmett, Georg Brunner, Raul Rabadan, Julide Tok Celebi Journal of Investigative Dermatology Volume 137, Issue 4, Pages (April 2017) DOI: /j.jid Copyright © 2016 The Authors Terms and Conditions
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Figure 1 Somatic mutation profiles of dysplastic nevi by exome sequencing. (a) Melanocytic nevus subtypes within the discovery cohort are indicated (total, n = 19, dysplastic nevus [DNS], n = 11; congenital melanocytic nevus [CMN], n = 2; and common acquired nevus [CAN], n = 6). Top panel shows a clinical image of a representative melanocytic nevus in the study groups. (b) Nonsynonymous and synonymous mutation frequencies across the melanocytic nevus subtypes are shown. (c) Base substitution frequencies are indicated. Journal of Investigative Dermatology , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions
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Figure 2 Determinants distinguishing melanocytic nevi and melanomas. (a) Distribution of mutational load in the extension cohort (total, n = 88; melanocytic nevus, n = 46; primary melanoma, n = 42) using a targeted sequencing platform of 785 genes. (b, c) Fraction of UV signature mutations compared between primary melanomas and melanocytic nevi. Discriminatory powers of TC>TT (P = ) and CC>CT (P = 0.855) among these tumor types are indicated. Journal of Investigative Dermatology , DOI: ( /j.jid ) Copyright © 2016 The Authors Terms and Conditions
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