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Article

Genotypic and Phenotypic Features of BAP1 Cancer Syndrome: A Report of 8 New Families and Review of Cases in the Literature.

JAMA dermatology - 1 Oct 2017

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

Abstract excerpt

Importance: 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. Objective: To describe 8 new families with germline...

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Identifiers

PMID: 28793149
DOI: 10.1001/jamadermatol.2017.2330
PMCID: PMC5710339

Genes

BAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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