Genotypic and Phenotypic Features of BAP1 Cancer Syndrome | Zendy

Alexandra M. Haugh | Zendy; Ching-Ni Jenny Njauw | Zendy; Jeffrey A. Bubley | Zendy; Anna Elisa Verzì | Zendy; Bin Zhang | Zendy; Emily Kudalkar | Zendy; Timothy VandenBoom | Zendy; Kara E. Walton | Zendy; Brian L. Swick | Zendy; Raj Kumar | Zendy; Huma Q. Rana | Zendy; Sarah Cochrane | Zendy; Shelley R. McCormick | Zendy; Christopher R. Shea | Zendy; Hensin Tsao | Zendy; Pedram Gerami | Zendy

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Genotypic and Phenotypic Features of BAP1 Cancer Syndrome

Author(s) -

Alexandra M. Haugh,

Ching-Ni Jenny Njauw,

Jeffrey A. Bubley,

Anna Elisa Verzì,

Bin Zhang,

Emily Kudalkar,

Timothy VandenBoom,

Kara E. Walton,

Brian L. Swick,

Raj Kumar,

Huma Q. Rana,

Sarah Cochrane,

Shelley R. McCormick,

Christopher R. Shea,

Hensin Tsao,

Pedram Gerami

Publication year - 2017

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.2017.2330

Subject(s) - medicine , germline mutation , bap1 , genotype , family history , genetic testing , germline , mutation , dermatology , cancer , oncology , genetics , gene , biology

Patients with germline mutations in BAP1 may develop several flesh-colored melanocytic BAP1-mutated atypical intradermal tumors (MBAITs). These tumors generally develop earlier than other BAP1-associated tumors, highlighting an important role for dermatologists in identifying and screening patients with a history suggestive of a germline mutation.

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