Genomic profiling of pelvic genital type leiomyosarcoma in a woman with a germline CHEK2:c.1100delC mutation and a concomitant diagnosis of metastatic invasive ductal breast carcinoma

We describe a woman with the known pathogenic germline variant CHEK2:c.1100delC and synchronous diagnoses of both pelvic genital type leiomyosarcoma (LMS) and metastatic invasive ductal breast carcinoma. CHEK2 (checkpoint kinase 2) is a tumor-suppressor gene encoding a serine/threonine-protein kinas...

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Detalles Bibliográficos
Autores principales: Thibodeau, My Linh, Reisle, Caralyn, Zhao, Eric, Martin, Lee Ann, Alwelaie, Yazeed, Mungall, Karen L., Ch'ng, Carolyn, Thomas, Ruth, Ng, Tony, Yip, Stephen, J. Lim, Howard, Sun, Sophie, Young, Sean S., Karsan, Aly, Zhao, Yongjun, Mungall, Andrew J., Moore, Richard A., J. Renouf, Daniel, Gelmon, Karen, Ma, Yussanne P., Hayes, Malcolm, Laskin, Janessa, Marra, Marco A., Schrader, Kasmintan A., Jones, Steven J. M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593158/
https://www.ncbi.nlm.nih.gov/pubmed/28514723
http://dx.doi.org/10.1101/mcs.a001628

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