Dramatic response of metastatic cutaneous angiosarcoma to an immune checkpoint inhibitor in a patient with xeroderma pigmentosum: whole-genome sequencing aids treatment decision in end-stage disease

“Mutational signatures” are patterns of mutations that report DNA damage and subsequent repair processes that have occurred. Whole-genome sequencing (WGS) can provide additional information to standard diagnostic techniques and can identify therapeutic targets. A 32-yr-old male with xeroderma pigmen...

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Detalles Bibliográficos
Autores principales: Momen, Sophie, Fassihi, Hiva, Davies, Helen R., Nikolaou, Christos, Degasperi, Andrea, Stefanato, Catherine M., Dias, Joao M. L., Dasgupta, Dhruba, Craythorne, Emma, Sarkany, Robert, Papa, Sophie, Nik-Zainal, Serena
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824248/
https://www.ncbi.nlm.nih.gov/pubmed/31645345
http://dx.doi.org/10.1101/mcs.a004408

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