rs1060502684, CHEK2

N. diseases: 2
Disease: Malignant neoplasm of breast ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Next-generation sequencing for the diagnosis of hereditary breast and ovarian cancer using genomic capture targeting multiple candidate genes. 24549055 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Rare, evolutionarily unlikely missense substitutions in CHEK2 contribute to breast cancer susceptibility: results from a breast cancer family registry case-control mutation-screening study. 21244692 2011
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR A novel germline CHEK2 deletion truncating the kinase domain identified in a French family with high-risk of breast/ovarian cancer. 19768534 2010