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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Bibliografische gegevens
Gepubliceerd in:Cold Spring Harb Mol Case Stud
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Cold Spring Harbor Laboratory Press 2017
Onderwerpen:
Research Report
Online toegang: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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