Journal article
Molecular Genomic Profiling of Melanocytic Nevi
AJ Colebatch, P Ferguson, F Newell, SH Kazakoff, T Witkowski, A Dobrovic, PA Johansson, RPM Saw, JR Stretch, GA McArthur, GV Long, JF Thompson, JV Pearson, GJ Mann, NK Hayward, N Waddell, RA Scolyer, JS Wilmott
Journal of Investigative Dermatology | ELSEVIER SCIENCE INC | Published : 2019
Abstract
The benign melanocytic nevus is the most common tumor in humans and rarely transforms into cutaneous melanoma. Elucidation of the nevus genome is required to better understand the molecular steps of progression to melanoma. We performed whole genome sequencing on a series of 14 benign melanocytic nevi consisting of both congenital and acquired types. All nevi had driver mutations in the MAPK signaling pathway, either BRAF V600E or NRAS Q61R/L. No additional definite driver mutations were identified. Somatic mutations in nevi with higher mutation loads showed a predominance of mutational signatures 7a and 7b, consistent with UVR exposure, whereas nevi with lower mutation loads (including all ..
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Funding Acknowledgements
This work was supported by Melanoma Institute Australia, Bioplatforms Australia, New South Wales Ministry of Health, Cancer Council New South Wales, Program Grants of the National Health and Medical Research Council of Australia, Cancer Institute New South Wales, and by the Australian Cancer Research Foundation. NW, JSW, NKH, GVL, and RAS are supported by National Health and Medical Research Council of Australia Fellowships. The authors gratefully acknowledge the support of colleagues at Melanoma Institute Australia, Royal Prince Alfred Hospital, NSW Health Pathology, the Westmead Institute for Medical Research. PF was supported by the Deborah and John McMurtrie Melanoma Institute Australia Pathology Fellowship. Andrew Colebatch is a recipient of the Postgraduate Research Fellowship 2015 from the Royal College of Pathologists of Australasia Foundation. The Olivia Newton-John Cancer Research Institute received support from the Operational Infrastructure Support Program of the Victorian State Government. GVL is supported by a University of Sydney, Sydney Medical School Foundation Grant.