2016
Germline MC1R status influences somatic mutation burden in melanoma
Robles-Espinoza CD, Roberts ND, Chen S, Leacy FP, Alexandrov LB, Pornputtapong N, Halaban R, Krauthammer M, Cui R, Timothy Bishop D, Adams DJ. Germline MC1R status influences somatic mutation burden in melanoma. Nature Communications 2016, 7: 12064. PMID: 27403562, PMCID: PMC4945874, DOI: 10.1038/ncomms12064.Peer-Reviewed Original ResearchMeSH KeywordsAgedAllelesCohort StudiesFemaleGenetic Predisposition to DiseaseGenetic VariationGerm-Line MutationHair ColorHead and Neck NeoplasmsHumansMaleMelanomaMelanosisMiddle AgedMutationMutation AccumulationNeoplasm InvasivenessPolymorphism, Single NucleotideReceptor, Melanocortin, Type 1Skin NeoplasmsSkin PigmentationConceptsR allelePhenotypic risk factorsCutaneous melanoma riskYears of ageSomatic mutation burdenRisk factorsMutation burdenSun exposureGeneral populationMelanoma riskMutational burdenSun sensitivityMC1R statusMajor genetic determinantMelanoma developmentReceptor geneT mutationMelanomaRed hairGenetic determinantsMutation classesDisruptive variantsBurdenAllelesMelanocortin 1 receptor (MC1R) gene
2008
Metastatic Peritoneal Neurocutaneous Melanocytosis
Cajaiba MM, Benjamin D, Halaban R, Reyes-Múgica M. Metastatic Peritoneal Neurocutaneous Melanocytosis. The American Journal Of Surgical Pathology 2008, 32: 156-161. PMID: 18162783, DOI: 10.1097/pas.0b013e3181238cd2.Peer-Reviewed Original ResearchConceptsNeurocutaneous melanocytosisCentral nervous systemComplex cytogenetic rearrangementsSevere neurologic manifestationsVentriculo-peritoneal shuntingPrimary skin melanomaLarge congenital melanocytic neviAtypical cell proliferationCongenital melanocytic neviSpecific diagnostic criteriaRare congenital disorderCNS metastasesNeurologic manifestationsNeurologic symptomsClinical courseLesion variesHistopathologic featuresNeurocutaneous melanosisBiologic featuresMalignant melanomaPeritoneal surfaceAggressive phenotypeDiagnostic criteriaNervous systemProliferation of melanocytes