Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer

Germline pathogenic variants in the BRCA1-associated protein-1 (BAP1) gene cause the BAP1 tumor predisposition syndrome (TPDS). BAP1 TPDS is associated with an increased risk of uveal and cutaneous melanoma, mesothelioma, renal cell carcinoma, and several other cancer subtypes. Here, we report a ger...

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Detalles Bibliográficos
Autores principales: Tesch, Megan E., Pater, Justin A., Vandekerkhove, Gillian, Wang, Gang, Binnington, Kristin, So, Alan I., Wyatt, Alexander W., Eigl, Bernhard J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7089973/
https://www.ncbi.nlm.nih.gov/pubmed/32218990
http://dx.doi.org/10.1038/s41525-020-0121-8

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7089973/
https://www.ncbi.nlm.nih.gov/pubmed/32218990
http://dx.doi.org/10.1038/s41525-020-0121-8

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