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 g...

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Veröffentlicht in:	Npj genomic medicine 2020-03, Vol.5 (1), p.12, Article 12
Hauptverfasser:	Tesch, Megan E., Pater, Justin A., Vandekerkhove, Gillian, Wang, Gang, Binnington, Kristin, So, Alan I., Wyatt, Alexander W., Eigl, Bernhard J.
Format:	Artikel
Sprache:	eng
Schlagworte:	Bioinformatics Biomedical and Life Sciences Biomedicine Bladder cancer Case Report Gene Function Gene Therapy Health risk assessment Human Genetics Internal Medicine Kidney cancer
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