TY  - JOUR
AU  - Potrony, Miriam
AU  - Puig-Butille, Joan Anton
AU  - Aguilera, Paula
AU  - Badenas, Celia
AU  - Tell-Marti, Gemma
AU  - Carrera, Cristina
AU  - Javier Del Pozo, Luis
AU  - Conejo-Mir, Julian
AU  - Malvehy, Josep
AU  - Puig, Susana
PY  - 2016
DO  - 10.1001/jamadermatol.2015.4356
UR  - http://hdl.handle.net/10668/9656
T2  - JAMA dermatology
AB  - The main high-penetrance melanoma susceptibility gene is CDKN2A, encoding p16INK4A and p14ARF. The gene MITF variant p.E318K also predisposes to melanoma and renal cell carcinoma. To date, the prevalence of MITF p.E318K and its clinical and...
LA  - en
KW  - Adult
KW  - Aged
KW  - Case-Control Studies
KW  - Cyclin-Dependent Kinase Inhibitor p16
KW  - Female
KW  - Follow-Up Studies
KW  - Genetic Predisposition to Disease
KW  - Genotype
KW  - Humans
KW  - Male
KW  - Melanoma
KW  - Microphthalmia-Associated Transcription Factor
KW  - Middle Aged
KW  - Mutation
KW  - Neoplasms, Multiple Primary
KW  - Nevus
KW  - Phenotype
KW  - Prevalence
KW  - Risk
KW  - Skin Neoplasms
KW  - Spain
TI  - Prevalence of MITF p.E318K in Patients With Melanoma Independent of the Presence of CDKN2A Causative Mutations.
TY  - research article
VL  - 152
ER  -