MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.

@article{Fernandez2007MC1RTN,
  title={MC1R: three novel variants identified in a malignant melanoma association study in the Spanish population.},
  author={Lp Fernandez and R L Milne and Jer{\'o}nimo Bravo and Jm Lopez and J F Avil{\'e}s and M B Longo and Javier Ben{\'i}tez and Pablo M{\'e}ndez L{\'a}zaro and Gl{\`o}ria Ribas},
  journal={Carcinogenesis},
  year={2007},
  volume={28 8},
  pages={1659-64}
}
The human melanocortin-1 receptor (MC1R) gene, which plays a crucial role in pigmentation, also appears to be important in malignant melanoma (MM). This case-control study in the Spanish population included 116 consecutive MM patients and 188 controls frequency matched for sex and age. Sequence analysis of the entire coding region of MC1R was performed, identifying 21 variants, all of them previously reported except for three novel non-synonymous changes: Ser41Phe, Met128Thr and Asn281Ser… CONTINUE READING