rs28897672, BRCA1

N. diseases: 16
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.730 GeneticVariation BEFREE While the Cys61Gly mutation appeared underrepresented in ovarian cancer as compared with breast cancer cases from the same population (p = 0.01), the 4153delA mutation made a higher contribution to ovarian cancer than to breast cancer (p < 0.01). 20569256 2010
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.730 GeneticVariation BEFREE We identified a founder mutation (4153delA, 5382insC or C61G) in 6% of 235 unselected cases of breast cancer and in 19% of 43 unselected cases of ovarian cancer. 20345474 2010
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.730 GeneticVariation BEFREE The risk for breast cancer was 42% higher among first degree relatives of carriers of the C61G missense mutation compared to other mutations (HR = 1.42; p = 0.10) and the risk for ovarian cancer was lower than average (OR = 0.26; p = 0.03). 16227521 2006
ovarian neoplasm
CUI: C0919267
Disease: ovarian neoplasm
0.730 CausalMutation CLINVAR