Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel GermlineBAP1Mutation | Zendy

Pedram Gerami | Zendy; Oriol Yélamos | Zendy; Christina Y. Lee | Zendy; Roxana Obregon | Zendy; Pedram Yazdan | Zendy; Lauren Meldi Sholl | Zendy; Gerta E. Guitart | Zendy; Ching-Ni Jenny Njauw | Zendy; Hensin Tsao | Zendy

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Multiple Cutaneous Melanomas and Clinically Atypical Moles in a Patient With a Novel GermlineBAP1Mutation

Author(s) -

Pedram Gerami,

Oriol Yélamos,

Christina Y. Lee,

Roxana Obregon,

Pedram Yazdan,

Lauren Meldi Sholl,

Gerta E. Guitart,

Ching-Ni Jenny Njauw,

Hensin Tsao

Publication year - 2015

Publication title -

jama dermatology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 2.128

H-Index - 166

eISSN - 2168-6084

pISSN - 2168-6068

DOI - 10.1001/jamadermatol.2015.1701

Subject(s) - bap1 , germline , cdkn2a , germline mutation , medicine , proband , dermatology , family history , melanoma , pathology , mutation , cancer research , genetics , cancer , biology , gene

Several kindreds having germline BAP1 mutations with a propensity for uveal and cutaneous melanomas and other internal malignancies have been described in an autosomal dominant tumor predisposition syndrome. However, clinically atypical moles have not been previously recognized as a component of this syndrome, to our knowledge. We describe the first kindred to date with a germline mutation in BAP1 associated with multiple cutaneous melanomas and classic dysplastic nevus syndrome.

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