Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs28897672
rs28897672
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
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

dbSNP: rs28897672
rs28897672
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
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

dbSNP: rs28897672
rs28897672
CUI: C1140680
Disease: Malignant neoplasm of ovary
Malignant neoplasm of ovary
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