Enrichment of heterozygous germline RECQL4 loss-of-function variants in pediatric osteosarcoma

Patients harboring germline pathogenic biallelic variants in genes involved in the recognition and repair of DNA damage are known to have a substantially increased cancer risk. Emerging evidence suggests that individuals harboring heterozygous variants in these same genes may also be at heightened,...

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Detalles Bibliográficos
Autores principales: Maciaszek, Jamie L., Oak, Ninad, Chen, Wenan, Hamilton, Kayla V., McGee, Rose B., Nuccio, Regina, Mostafavi, Roya, Hines-Dowell, Stacy, Harrison, Lynn, Taylor, Leslie, Gerhardt, Elsie L., Ouma, Annastasia, Edmonson, Michael N., Patel, Aman, Nakitandwe, Joy, Pappo, Alberto S., Azzato, Elizabeth M., Shurtleff, Sheila A., Ellison, David W., Downing, James R., Hudson, Melissa M., Robison, Leslie L., Santana, Victor, Newman, Scott, Zhang, Jinghui, Wang, Zhaoming, Wu, Gang, Nichols, Kim E., Kesserwan, Chimene A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824257/
https://www.ncbi.nlm.nih.gov/pubmed/31604778
http://dx.doi.org/10.1101/mcs.a004218

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