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Pathogenic ATM and BAP1 germline mutations in a case of early-onset, familial sarcomatoid renal cancer

Metastatic renal cell carcinoma (RCC) remains an incurable malignancy, despite recent advances in systemic therapies. Genetic syndromes associated with kidney cancer account for only 5%–8% of all diagnosed kidney malignancies, and genetic predispositions to kidney cancer predisposition are still bei...

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Detalles Bibliográficos
Autores principales: Bell, Hannah N., Kumar-Sinha, Chandan, Mannan, Rahul, Zakalik, Dana, Zhang, Yuping, Mehra, Rohit, Jagtap, Deepa, Dhanasekaran, Saravana M., Vaishampayan, Ulka
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9059789/
https://www.ncbi.nlm.nih.gov/pubmed/35483881
http://dx.doi.org/10.1101/mcs.a006203