rs587780228, BRIP1

N. diseases: 4
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 Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2. 28709830 2017
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pathologic findings in breast, fallopian tube, and ovary specimens in non-BRCA hereditary breast and/or ovarian cancer syndromes: a study of 18 patients with deleterious germline mutations in RAD51C, BARD1, BRIP1, PALB2, MUTYH, or CHEK2. 28709830 2017
FANCONI ANEMIA, COMPLEMENTATION GROUP J
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016
Neoplastic Syndromes, Hereditary
CUI: C0027672
Disease: Neoplastic Syndromes, Hereditary
0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
FANCONI ANEMIA, COMPLEMENTATION GROUP J
CUI: C1836860
Disease: FANCONI ANEMIA, COMPLEMENTATION GROUP J
0.700 CausalMutation CLINVAR Inherited Mutations in Women With Ovarian Carcinoma. 26720728 2016
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.700 CausalMutation CLINVAR Pathogenic and likely pathogenic variant prevalence among the first 10,000 patients referred for next-generation cancer panel testing. 26681312 2016