The MC1R r allele does not increase melanoma risk in MITF E318K carriers.

doi:10.1093/bjd/ljad041

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Article

The MC1R r allele does not increase melanoma risk in MITF E318K carriers.

The British journal of dermatology - 24 May 2023

Wallingford Courtney K, Demeshko Anastassia, Krishnakripa Asha Krishnankutty, Smit Darren J, Duffy David L, Betz-Stablein Brigid, Pflugfelder Annette, Jagirdar Kasturee, Holland Elizabeth, Mann Graham J, Primiero Clare A, Yanes Tatiane, Malvehy Josep, Badenas Cèlia, Carrera Cristina, Aguilera Paula, Olsen Catherine M, Ward Sarah V, Haass Nikolas K, Sturm Richard A, Puig Susana, Whiteman David C, Law Matthew H, Cust Anne E, Potrony Miriam, Soyer H Peter, McInerney-Leo Aideen M

Abstract excerpt

BACKGROUND: Population-wide screening for melanoma is not cost-effective, but genetic characterization could facilitate risk stratification and targeted screening. Common Melanocortin-1 receptor (MC1R) red hair colour (RHC) variants and Microphthalmia-associated transcription factor (MITF) E318K separately confer moderate melanoma susceptibility, but their interactive effects are relatively unexplored....

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PMID: 36879448
DOI: 10.1093/bjd/ljad041
PMCID: PMC10230961

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