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Author Notes:

Nancy E. Thomas, MD PhD, Department of Dermatology, University of North Carolina, 2159 Genomic Science Bldg., CB#7287, Chapel Hill, NC 27599. Phone: (919) 966-0785; Fax: (919) 966-6460; Email: nthomas@med.unc.edu

The authors contributed to the following aspects of this study: Conceptualization: Gibbs, Orlow, Vernali, Kanetsky, Begg, Berwick, Thomas; Data Curation: Gibbs, Orlow, Sharma, Berwick, Thomas; Formal Analysis: Gibbs, Vernali, Powell, Luo, Thomas; Funding Acquisition: Begg, Berwick, Thomas; Investigation: All authors; Methodology: All authors; Project Administration: Orlow, Begg, Berwick, Thomas; Resources: Orlow, Berwick, Thomas; Software: Gibbs, Thomas; Supervision: Orlow, Kanetsky, Berwick, Thomas; Validation: Not applicable; Visualization: Gibbs, Thomas; Writing - Original Draft Preparation: Gibbs, Thomas; Writing - Review and Editing: All authors.

We are indebted to the GEM Study Group: Coordinating Center, Memorial Sloan Kettering Cancer Center, New York, NY (USA): Marianne Berwick (PI, currently at the University of New Mexico, Albuquerque, NM), Colin Begg, Ph.D. (co-PI), Irene Orlow, Ph.D., M.S. (co-Investigator), Klaus J. Busam, M.D. (Dermatopathologist), Pampa Roy, Ph.D. (Senior Laboratory Technician), Ajay Sharma M.S. (Laboratory Technician), Emily La Pilla, M.S. (Senior Laboratory Technician), Sarah Yoo (Senior Laboratory Technician), Jaipreet Rayar (Senior Research Technician), Anne Reiner, M.S. (Biostatistician). University of New Mexico, Albuquerque, NM: Marianne Berwick, M.P.H., Ph.D. (PI), Li Luo, Ph.D. (Biostatistician), Tawny W. Boyce, M.P.H. (Data Manager). Study Centers: The University of Sydney and The Cancer Council New South Wales, Sydney, Australia: Anne E. Cust, Ph.D. (PI), Bruce K. Armstrong M.D. Ph.D. (former PI), Anne Kricker Ph.D., (former co-PI); Menzies Institute for Medical Research University of Tasmania, Hobart, Australia: Alison Venn (current PI), Terence Dwyer (PI, currently at University of Oxford, United Kingdom), Paul Tucker (Dermatopathologist); British Columbia Cancer Research Centre, Vancouver, Canada: Richard P. Gallagher, M.A. (PI), Cancer Care Ontario, Toronto, Canada: Loraine D. Marrett, Ph.D. (PI), Lynn From, M.D. (Dermatopathologist); CPO, Center for Cancer Prevention, Torino, Italy: Roberto Zanetti, M.D (PI), Stefano Rosso, M.D., M.Sc. (co-PI); University of California, Irvine, CA: Hoda Anton-Culver, Ph.D. (PI); University of Michigan, Ann Arbor, MI: University of Michigan, Ann Arbor, MI: Stephen B. Gruber, M.D., M.P.H., Ph.D. (PI, currently at University of Southern California, Los Angeles, CA), Shu-Chen Huang, M.S., M.B.A. (co-Investigator, joint at USC-University of Michigan); University of North Carolina, Chapel Hill, NC: Nancy E. Thomas, M.D., Ph.D. (PI), Kathleen Conway, PhD (co-Investigator), David W. Ollila, M.D. (co-Investigator), Pamela A. Groben, M.D. (Dermatopathologist), Sharon N. Edmiston, BA (Research Analyst), Honglin Hao (Laboratory Specialist), Eloise Parrish, MSPH (Laboratory Specialist), Jill S. Frank, MS (Research Assistant), David C. Gibbs, B.S. (Research Assistant, currently MD/PhD candidate at Emory University, Atlanta, GA); University of Pennsylvania, Philadelphia, PA: Timothy R. Rebbeck, Ph.D. (former PI), Peter A. Kanetsky, M.P.H., Ph.D. (PI, currently at H. Lee Moffitt Cancer Center & Research Institute, Tampa, FL); UV data consultants: Julia Lee Taylor, Ph.D. and Sasha Madronich, Ph.D., National Centre for Atmospheric Research, Boulder, CO.

KJB has received minor royalties from editing a textbook with Elsevier. The remaining authors state no conflict of interest.

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Research Funding:

This work was supported by the National Cancer Institute (P01CA206980 to NET and MB, R01CA112243 to NET, U01CA83180 and R01CA112524 to MB, R01CA098438 to CBB, R03CA125829 and R03CA173806 to IO, P30CA016086 (to Henry Shelton Earp), P30CA014089 (to SBG), and P30CA008748 (to Craig B. Thompson). A.E.C. was supported by Career Development Fellowships from the NHMRC (1147843) and Cancer Institute NSW (15/CDF/1–14).

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Dermatology

Inherited Melanoma Risk Variants Associated with Histopathologically Amelanotic Melanoma

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Journal Title:

JOURNAL OF INVESTIGATIVE DERMATOLOGY

Volume:

Volume 140, Number 4

Publisher:

, Pages 918-922

Type of Work:

Article | Post-print: After Peer Review

Abstract:

Amelanotic melanoma (AM) accounts for 2–20% of cutaneous melanomas but a disproportionately high number of melanoma-related deaths because of a more advanced stage at diagnosis (Strazzulla et al., 2019, Thomas et al., 2014, Wee et al., 2018). AM is defined by lacking pigment upon clinical inspection or melanin upon histopathological examination; and, in some studies, includes both hypo- and non-pigmented lesions. We reported in the Genes, Environment and Melanoma Study (GEM) that carriage of MC1R variants, absent back nevi, many freckles, red hair, lighter eyes, and decreased tannability were associated with histopathologically AM relative to pigmented melanoma (PM) (Vernali et al., 2017), consistent with other studies (Rayner et al., 2019, Strazzulla et al., 2019, Wee et al., 2018). We sought to determine if risk loci besides MC1R were associated with AM by investigating the associations of 47 SNPs in other putative melanoma risk loci.

Copyright information:

This is an Open Access work distributed under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (https://creativecommons.org/licenses/by-nc-nd/4.0/rdf).
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