CHEK2, checkpoint kinase 2, 11200

N. diseases: 48; N. variants: 209
Disease: leiomyosarcoma ×
Source: CLINVAR ×
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0023269
Disease: leiomyosarcoma
leiomyosarcoma 		0.100 CausalMutation disease CLINVAR 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. 28514723 2017