Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Germline and somatic albinism variants in amelanotic/hypomelanotic melanoma: Increased carriage of TYR and OCA2 variants.

Amelanotic/hypomelanotic melanoma is a clinicopathologic subtype with absent or minimal melanin. This study assessed previously reported coding variants in albinism genes (TYR, OCA2, TYRP1, SLC45A2, SLC24A5, LRMDA) and common intronic, regulatory variants of OCA2 in individuals with amelanotic/hypom...

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Bibliographic Details
Main Authors: Jenna E Rayner, David L Duffy, Darren J Smit, Kasturee Jagirdar, Katie J Lee, Brian De'Ambrosis, B Mark Smithers, Erin K McMeniman, Aideen M McInerney-Leo, Helmut Schaider, Mitchell S Stark, H Peter Soyer, Richard A Sturm
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2020-01-01
Series:PLoS ONE
Online Access:https://doi.org/10.1371/journal.pone.0238529

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https://doi.org/10.1371/journal.pone.0238529

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