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Germline mutations in BAP1 predispose to melanocytic tumors

Nature Genetics, ISSN: 1061-4036, Vol: 43, Issue: 10, Page: 1018-1022
2011
  • 599
    Citations
  • 0
    Usage
  • 299
    Captures
  • 1
    Mentions
  • 0
    Social Media
Metric Options:   Counts1 Year3 Year

Metrics Details

  • Citations
    599
  • Captures
    299
  • Mentions
    1
    • References
      1
      • 1

Article Description

Common acquired melanocytic nevi are benign neoplasms that are composed of small, uniform melanocytes and are typically present as flat or slightly elevated pigmented lesions on the skin. We describe two families with a new autosomal dominant syndrome characterized by multiple, skin-colored, elevated melanocytic tumors. In contrast to common acquired nevi, the melanocytic neoplasms in affected family members ranged histopathologically from epithelioid nevi to atypical melanocytic proliferations that showed overlapping features with melanoma. Some affected individuals developed uveal or cutaneous melanomas. Segregating with this phenotype, we found inactivating germline mutations of BAP1, which encodes a ubiquitin carboxy-terminal hydrolase. The majority of melanocytic neoplasms lost the remaining wild-type allele of BAP1 by various somatic alterations. In addition, we found BAP1 mutations in a subset of sporadic melanocytic neoplasms showing histological similarities to the familial tumors. These findings suggest that loss of BAP1 is associated with a clinically and morphologically distinct type of melanocytic neoplasm. © 2011 Nature America, Inc. All rights reserved.

Bibliographic Details

Wiesner, Thomas; Obenauf, Anna C; Murali, Rajmohan; Fried, Isabella; Griewank, Klaus G; Ulz, Peter; Windpassinger, Christian; Wackernagel, Werner; Loy, Shea; Wolf, Ingrid; Viale, Agnes; Lash, Alex E; Pirun, Mono; Socci, Nicholas D; Rütten, Arno; Palmedo, Gabriele; Abramson, David; Offit, Kenneth; Ott, Arthur; Becker, Jürgen C; Cerroni, Lorenzo; Kutzner, Heinz; Bastian, Boris C; Speicher, Michael R

Faculty Opinions Ltd

Biochemistry, Genetics and Molecular Biology

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