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An integrated somatic and germline approach to aid interpretation of germline variants of uncertain significance in cancer susceptibility genes

Genomic profiles of tumors are often unique and represent characteristic mutational signatures defined by DNA damage or DNA repair response processes. The tumor-derived somatic information has been widely used in therapeutic applications, but it is grossly underutilized in the assessment of germline...

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Detalles Bibliográficos
Autores principales: Schwartz, Alison, Manning, Danielle K., Koeller, Diane R., Chittenden, Anu, Isidro, Raymond A., Hayes, Connor P., Abraamyan, Feruza, Manam, Monica Devi, Dwan, Meaghan, Barletta, Justine A., Sholl, Lynette M., Yurgelun, Matthew B., Rana, Huma Q., Garber, Judy E., Ghazani, Arezou A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453486/
https://www.ncbi.nlm.nih.gov/pubmed/36091175
http://dx.doi.org/10.3389/fonc.2022.942741