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

ABSTRACT:

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.

Objectives

To evaluate whether MC1R genotypes differentially affect melanoma risk in MITF E318K+ vs. E318K- individuals.

Materials and methods

Melanoma status (affected or unaffected) and genotype data (MC1R and MITF E318K) were collated from research cohorts (five Australian and two European). In addition, RHC genotypes from E318K+ individuals with and without melanoma

SUBMITTER: Wallingford CK 

PROVIDER: S-EPMC10230961 | biostudies-literature | 2023 May

REPOSITORIES: biostudies-literature