Article
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.
Cold Spring Harbor molecular case studies - 1 Sept 2017
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
Abstract excerpt
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 kinase (CHEK2) involved in double-strand DNA break repair and cell cycle arrest. The CHEK2:c.1100delC variant is a...
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