rs555607708, CHEK2

N. diseases: 33
Disease: leiomyosarcoma ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
leiomyosarcoma
CUI: C0023269
Disease: leiomyosarcoma
0.700 CausalMutation 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