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
0.810 CausalMutation CLINVAR
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Genetic cancer risk assessment and counseling: recommendations of the national society of genetic counselors. 15604628 2004
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.810 GeneticVariation BEFREE Measures of genetic risk (report of family history, segregation) were assessed for 68 BRCA1 c.5096G>A p.Arg1699Gln (R1699Q) families recruited through family cancer clinics, comparing results with 34 families carrying the previously classified pathogenic BRCA1 c.5095C>T p.Arg1699Trp (R1699W) mutation at the same residue, and to 243 breast cancer families with no BRCA1 pathogenic mutation (BRCA-X). 22889855 2012
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. 17508274 2007
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement. 24366376 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT Summaries for patients. Assessing the genetic risk for BRCA-related breast or ovarian cancer in women: recommendations from the U.S. Preventive Services Task Force. 24366402 2014
Malignant neoplasm of breast
CUI: C0006142
Disease: Malignant neoplasm of breast
0.810 GeneticVariation UNIPROT The emerging landscape of breast cancer susceptibility. 18163131 2008