Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening GuidelinesChau, 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 journal › Article › Academic › peer-review
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
|Number of pages||21|
|Publication status||Published - 4-Aug-2019|
- 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