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Comment
. 2011 Sep 28;43(10):925-6.
doi: 10.1038/ng.956.

Germline BAP1 mutations and tumor susceptibility

Comment

Germline BAP1 mutations and tumor susceptibility

Alisa M Goldstein. Nat Genet. .

Abstract

Two new studies describe germline mutations in BAP1 in putatively dissimilar cancer-related syndromes. Although the predominant neoplasms – melanocytic tumors with distinct clinical and histopathological features versus mesothelioma – differ, uveal melanoma occurs, albeit infrequently, in both disorders.

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Conflict of interest statement

Competing Financial Interests

The author declares no competing financial interest

Comment on

  • Germline BAP1 mutations predispose to malignant mesothelioma.
    Testa JR, Cheung M, Pei J, Below JE, Tan Y, Sementino E, Cox NJ, Dogan AU, Pass HI, Trusa S, Hesdorffer M, Nasu M, Powers A, Rivera Z, Comertpay S, Tanji M, Gaudino G, Yang H, Carbone M. Testa JR, et al. Nat Genet. 2011 Aug 28;43(10):1022-5. doi: 10.1038/ng.912. Nat Genet. 2011. PMID: 21874000 Free PMC article.

References

    1. Harbour JW, et al. Frequent mutation of BAP1 in metastasizing uveal melanomas. Science. 2010;330:1410–3. - PMC - PubMed
    1. Bott M, et al. The nuclear deubiquitinase BAP1 is commonly inactivated by somatic mutations and 3p21.1 losses in malignant pleural mesothelioma. Nat Genet. 2011;43:668–72. - PMC - PubMed
    1. Wiesner T, Obenauf AC, Murali R. Germline mutations in BAP1 predispose to melanocytic tumors. Nat Genet. 2011 - PMC - PubMed
    1. Testa JR, Cheung M, Pei J. Germline BAP1 mutations predispose to malignant mesothelioma. Nat Genet. 2011 - PMC - PubMed
    1. Forbes SA, et al. The Catalogue of Somatic Mutations in Cancer (COSMIC) Curr Protoc Hum Genet. 2008;Chapter 10(Unit 10):11. - PMC - PubMed