Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines
Germline pathogenic variants in the BRCA1-associated protein-1 (<i>BAP1</i>) 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)...
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| Format: | Article |
| Language: | English |
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MDPI AG
2019-08-01
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| Series: | Cancers |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2072-6694/11/8/1114 |
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Article |
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DOAJ |
| language |
English |
| format |
Article |
| sources |
DOAJ |
| author |
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 |
| spellingShingle |
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 Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines Cancers <i>BAP1</i> BAP1 tumor predisposition syndrome germline referral guidelines |
| author_facet |
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 |
| author_sort |
Cindy Chau |
| title |
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines |
| title_short |
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines |
| title_full |
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines |
| title_fullStr |
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines |
| title_full_unstemmed |
Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening Guidelines |
| title_sort |
families with bap1-tumor predisposition syndrome in the netherlands: path to identification and a proposal for genetic screening guidelines |
| publisher |
MDPI AG |
| series |
Cancers |
| issn |
2072-6694 |
| publishDate |
2019-08-01 |
| description |
Germline pathogenic variants in the BRCA1-associated protein-1 (<i>BAP1</i>) 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 <i>BAP1</i>-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 <i>BAP1</i> 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 <i>BAP1</i> 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. |
| topic |
<i>BAP1</i> BAP1 tumor predisposition syndrome germline referral guidelines |
| url |
https://www.mdpi.com/2072-6694/11/8/1114 |
| work_keys_str_mv |
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doaj-dd63a35d7b584f179e50f9f4028687262020-11-25T01:02:44ZengMDPI AGCancers2072-66942019-08-01118111410.3390/cancers11081114cancers11081114Families with BAP1-Tumor Predisposition Syndrome in The Netherlands: Path to Identification and a Proposal for Genetic Screening GuidelinesCindy Chau0Remco van Doorn1Natasha M. van Poppelen2Nienke van der Stoep3Arjen R. Mensenkamp4Rolf H. Sijmons5Barbara W. van Paassen6Ans M. W. van den Ouweland7Nicole C. Naus8Annemieke H. van der Hout9Thomas P. Potjer10Fonnet E. Bleeker11Marijke R. Wevers12Liselotte P. van Hest13Marjolijn C. J. Jongmans14Marina Marinkovic15Jaco C. Bleeker16Martine J. Jager17Gregorius P. M. Luyten18Maartje Nielsen19Department of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The NetherlandsDepartment of Dermatology, Leiden University Medical Center, 2333 ZA Leiden, The NetherlandsDepartment of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The NetherlandsDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The NetherlandsDepartment of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The NetherlandsDepartment of Genetics, University Medical Center Groningen, 9713 GZ Groningen, The NetherlandsDepartment of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The NetherlandsDepartment of Clinical Genetics, Erasmus Medical Center, 3015 GD Rotterdam, The NetherlandsDepartment of Ophthalmology, Erasmus Medical Center, 3015 GD Rotterdam, The NetherlandsDepartment of Genetics, University Medical Center Groningen, 9713 GZ Groningen, The NetherlandsDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The NetherlandsDepartment of Clinical Genetics, Netherlands Cancer Institute, 1066 CX Amsterdam, The NetherlandsDepartment of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The NetherlandsDepartment of Clinical Genetics, Amsterdam University Medical Centers, 1081 HV Amsterdam, The NetherlandsDepartment of Clinical Genetics, Radboud University Medical Center, 6525 GA Nijmegen, The NetherlandsDepartment of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The NetherlandsDepartment of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The NetherlandsDepartment of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The NetherlandsDepartment of Ophthalmology, Leiden University Medical Center, 2333 ZA Leiden, The NetherlandsDepartment of Clinical Genetics, Leiden University Medical Center, 2333 ZA Leiden, The NetherlandsGermline pathogenic variants in the BRCA1-associated protein-1 (<i>BAP1</i>) 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 <i>BAP1</i>-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 <i>BAP1</i> 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 <i>BAP1</i> 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.https://www.mdpi.com/2072-6694/11/8/1114<i>BAP1</i>BAP1 tumor predisposition syndromegermlinereferral guidelines |