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 (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 applic... Mehr ...
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Dokumenttyp: | Text |
Erscheinungsdatum: | 2019 |
Verlag/Hrsg.: |
Multidisciplinary Digital Publishing Institute
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Schlagwörter: | BAP1 / BAP1 tumor predisposition syndrome / germline / referral guidelines |
Sprache: | Englisch |
Permalink: | https://search.fid-benelux.de/Record/base-26809974 |
Datenquelle: | BASE; Originalkatalog |
Powered By: | BASE |
Link(s) : | https://doi.org/10.3390/cancers11081114 |