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Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

Chau, C., van Doorn, R., van Poppelen, N. M., van der Stoep, N., Mensenkamp, A. R., Sijmons, R. H., van Paassen, B. W., van den Ouweland, A. M. W., Naus, N. C., van der Hout, A. H., Potjer, T. P., Bleeker, F. E., Wevers, M. R., van Hest, L. P., Jongmans, M. C. J., Marinkovic, M., Bleeker, J. C., Jager, M. J., Luyten, G. P. M. & Nielsen, M., 4-Aug-2019, In : Cancers. 11, 8, 21 p., 1114.

Research output: Contribution to journalArticleAcademicpeer-review

  • Cindy Chau
  • Remco van Doorn
  • Natasha M. van Poppelen
  • Nienke van der Stoep
  • Arjen R. Mensenkamp
  • Rolf H. Sijmons
  • Barbara W. van Paassen
  • Ans M. W. van den Ouweland
  • Nicole C. Naus
  • Annemieke H. van der Hout
  • Thomas P. Potjer
  • Fonnet E. Bleeker
  • Marijke R. Wevers
  • Liselotte P. van Hest
  • Marjolijn C. J. Jongmans
  • Marina Marinkovic
  • Jaco C. Bleeker
  • Martine J. Jager
  • Gregorius P. M. Luyten
  • Maartje Nielsen

Germline pathogenic variants in the BRCA1-associated protein-1 (BAP1) gene cause the BAP1-tumor predisposition syndrome (BAP1-TPDS, OMIM 614327). BAP1-TPDS is associated with an increased risk of developing uveal melanoma (UM), cutaneous melanoma (CM), malignant mesothelioma (MMe), renal cell carcinoma (RCC), meningioma, cholangiocarcinoma, multiple non-melanoma skin cancers, and BAP1-inactivated nevi. Because of this increased risk, it is important to identify patients with BAP1-TPDS. The associated tumors are treated by different medical disciplines, emphasizing the need for generally applicable guidelines for initiating genetic analysis. In this study, we describe the path to identification of BAP1-TPDS in 21 probands found in the Netherlands and the family history at the time of presentation. We report two cases of de novo BAP1 germline mutations (2/21, 9.5%). Findings of this study combined with previously published literature, led to a proposal of guidelines for genetic referral. We recommend genetic analysis in patients with >= 2 BAP1-TPDS-associated tumors in their medical history and/or family history. We also propose to test germline BAP1 in patients diagnosed with UM

Original languageEnglish
Article number1114
Number of pages21
JournalCancers
Volume11
Issue number8
Publication statusPublished - 4-Aug-2019

    Keywords

  • BAP1, BAP1 tumor predisposition syndrome, germline, referral guidelines, GERMLINE BAP1 MUTATIONS, UVEAL MELANOMA, CLINICAL PHENOTYPE, MALIGNANT MESOTHELIOMA, CONJUNCTIVAL MELANOMA, CUTANEOUS MELANOMA, NRAS MUTATIONS, CANCER, ASBESTOS, BRAF

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