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

ABSTRACT:

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 mutations in BAP1 and provide a comprehensive review of reported cases.

Design, settings and participants

Patients were identified in an outpatient dermatology clinical setting over a 6-month period (10 mutation carriers from 8 families) and through a literature review using PubMed (205 patients).

Exposures

Mutations were identified through next-generation

SUBMITTER: Haugh AM 

PROVIDER: S-EPMC5710339 | biostudies-literature | 2017 Oct

REPOSITORIES: biostudies-literature