Cancers, Vol. 11, Pages 1114: Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines

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.

Source: Cancers - August 3, 2019 Category: Cancer & Oncology Authors: 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 Lis Tags: Article Source Type: research