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Differences in Cancer Phenotypes Among Frequent CHEK2 Variants and Implications for Clinical Care—Checking CHEK2

IMPORTANCE: Germline CHEK2 pathogenic variants (PVs) are frequently detected by multigene cancer panel testing (MGPT), but our understanding of PVs beyond c.1100del has been limited. OBJECTIVE: To compare cancer phenotypes of frequent CHEK2 PVs individually and collectively by variant type. DESIGN,...

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Detalles Bibliográficos
Autores principales: Bychkovsky, Brittany L., Agaoglu, Nihat B., Horton, Carolyn, Zhou, Jing, Yussuf, Amal, Hemyari, Parichehr, Richardson, Marcy E., Young, Colin, LaDuca, Holly, McGuinness, Deborah L., Scheib, Rochelle, Garber, Judy E., Rana, Huma Q.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Medical Association 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9501803/
https://www.ncbi.nlm.nih.gov/pubmed/36136322
http://dx.doi.org/10.1001/jamaoncol.2022.4071