Article
Genetic profiling of a rare condition: co-occurrence of albinism and multiple primary melanoma in a Caucasian family.
Oncotarget - 2 May 2017
De Summa Simona, Guida Michele, Tommasi Stefania, Strippoli Sabino, Pellegrini Cristina, Fargnoli Maria Concetta, Pilato Brunella, Natalicchio Iole, Guida Gabriella, Pinto Rosamaria
Abstract excerpt
Multiple primary melanoma (MPM) is a rare condition, whose genetic basis has not yet been clarified. Only 8-12% of MPM are due to germline mutations of CDKN2A. However, other genes (POT1, BRCA1/2, MC1R, MGMT) have been demonstrated to be involved in predisposition to this pathology.To our knowledge, this is the first family study based on two siblings with the rare coexistence of MPM and oculocutaneous albinism...
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