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- Title
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines.
- Authors
Chau, Cindy; van Doorn, Remco; van Poppelen, Natasha M.; van der Stoep, Nienke; Mensenkamp, Arjen R.; Sijmons, Rolf H.; van Paassen, Barbara W.; van den Ouweland, Ans M. W.; Naus, Nicole C.; van der Hout, Annemieke H.; Potjer, Thomas P.; Bleeker, Fonnet E.; Wevers, Marijke R.; van Hest, Liselotte P.; Jongmans, Marjolijn C. J.; Marinkovic, Marina; Bleeker, Jaco C.; Jager, Martine J.; Luyten, Gregorius P. M.; Nielsen, Maartje
- Abstract
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 <40 years, CM <18 years, MMe <50 years, or RCC <46 years. Furthermore, other candidate susceptibility genes for tumor types associated with BAP1-TPDS are discussed, which can be included in gene panels when testing patients.
- Subjects
NETHERLANDS; GENETIC disorder diagnosis; MESOTHELIOMA risk factors; DISEASE susceptibility; MEDICAL protocols; MEDICAL referrals; MESOTHELIOMA; GENETIC mutation; GENETIC testing; UVEA cancer; FAMILY history (Medicine); DESCRIPTIVE statistics; HEREDITARY cancer syndromes; DISEASE risk factors
- Publication
Cancers, 2019, Vol 11, Issue 8, p1114
- ISSN
2072-6694
- Publication type
Article
- DOI
10.3390/cancers11081114