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...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
الحاوية / القاعدة:Cold Spring Harb Mol Case Stud
المؤلفون الرئيسيون: 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.
التنسيق: Artigo
اللغة:Inglês
منشور في: Cold Spring Harbor Laboratory Press 2017
الموضوعات:
Research Report
الوصول للمادة أونلاين: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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