Peter Johansen and colleagues perform a study to investigate whether pigmentation genes involved in the melanogenic pathway (melanogenesis) contributed to melanoma predisposition. They compared pigmentary genetics with quantitative skin pigmentation measurements, the number of atypical nevi, the total nevus count, and the familial atypical multiple mole and melanoma (FAMMM) syndrome. They observed that individuals with any two grouped MC1R variants (missense, NM_002386:c. 456C > A (p.TYR152*), or NM_002386:c.83_84insA (p.Asn29Glnfs*14) had significantly (p<0.001) lighter skin pigmentation of the upper-inner arm than those with none or one MC1R variant. They did not observe any association between any pigmentary marker and the FAMMM syndrome.
Johansen, Peter et al. PLOS ONE.
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Cincinnati Children's Hospital Medical Center