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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Detalhes bibliográficos
Publicado no:Cold Spring Harb Mol Case Stud
Main Authors: 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: Artigo
Idioma:Inglês
Publicado em: Cold Spring Harbor Laboratory Press 2017
Assuntos:
Research Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5593158/
https://ncbi.nlm.nih.gov/pubmed/28514723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001628
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