title: High incidence of primary melanomas in an MC1R RHC homozygote/CDKN2A mutant genotype patient.
abstract: Melanoma incidence in Australia remains the highest in the world; hence understanding its causation is paramount for future therapeutic developments. Multiple primary melanomas are also common occurrences among the Australian population with identified risk factors such as personal and family history of melanoma, fair skin type, dysplastic naevus syndrome and history of significant ultraviolet exposure. The roles of both environmental and genetic factors have been elucidated in melanoma development, but the synergy of interactions between the two remains complex given the heterogeneous nature of the disease. We present a rare case of a 57-year-old female with 20 cutaneous melanomas and review the role of genetic and environmental factors in development of her multiple primary melanomas.
authors.affiliation: Dermatology Research Centre, School of Medicine, Translational Research Institute, The University of Queensland, 37 Kent Street, Woolloongabba, Brisbane, QLD, 4102, Australia. s.sinnya@uq.edu.au.|Dermatology Department, Princess Alexandra Hospital, Brisbane, Australia. s.sinnya@uq.edu.au.
authors.forename: Sudipta
authors.initials: S
authors.lastname: Sinnya
authors.affiliation: Dermatology Research Centre, School of Medicine, Translational Research Institute, The University of Queensland, 37 Kent Street, Woolloongabba, Brisbane, QLD, 4102, Australia.
authors.forename: Kasturee
authors.initials: K
authors.lastname: Jagirdar
authors.affiliation: Dermatology Research Centre, School of Medicine, Translational Research Institute, The University of Queensland, 37 Kent Street, Woolloongabba, Brisbane, QLD, 4102, Australia.|South East Dermatology, Belmont Specialist Centre, Brisbane, Australia.|Dermatology Department, Princess Alexandra Hospital, Brisbane, Australia.
authors.forename: Brian
authors.initials: B
authors.lastname: De'Ambrosis
authors.affiliation: Dermatology Research Centre, School of Medicine, Translational Research Institute, The University of Queensland, 37 Kent Street, Woolloongabba, Brisbane, QLD, 4102, Australia.|Dermatology Department, Princess Alexandra Hospital, Brisbane, Australia.
authors.forename: Erin
authors.initials: E
authors.lastname: McMeniman
authors.affiliation: Dermatology Research Centre, School of Medicine, Translational Research Institute, The University of Queensland, 37 Kent Street, Woolloongabba, Brisbane, QLD, 4102, Australia.
authors.forename: Richard A
authors.initials: RA
authors.lastname: Sturm
authors.affiliation: Dermatology Research Centre, School of Medicine, Translational Research Institute, The University of Queensland, 37 Kent Street, Woolloongabba, Brisbane, QLD, 4102, Australia.|Dermatology Department, Princess Alexandra Hospital, Brisbane, Australia.
authors.forename: H Peter
authors.initials: HP
authors.lastname: Soyer
mesh_terms: D001315:Australia / Q000453:epidemiology; D019941:Cyclin-Dependent Kinase Inhibitor p16 / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D008545:Melanoma / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009378:Neoplasms, Multiple Primary / Q000235:genetics* / Q000473:pathology; D044102:Receptor, Melanocortin, Type 1 / Q000235:genetics*; D012878:Skin Neoplasms / Q000453:epidemiology / Q000235:genetics* / Q000473:pathology; D000096142:Cutaneous Malignant Melanoma
chemical_list: D019941:Cyclin-Dependent Kinase Inhibitor p16; D044102:Receptor, Melanocortin, Type 1
keywords: CDKN2A; Genetic susceptibility; MC1R; Multiple primary melanomas; UV exposure