rs1799950, BRCA1

N. diseases: 13
Disease: Malignant neoplasm of ovary ×
Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE Further characterisation of rs1799950 is now warranted in relation to chemosensitivity and susceptibility to developing ovarian carcinoma. 29298688 2018
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE We resequenced BRCA1 and BRCA2 in 194 women with a familial history of breast and/or ovarian cancer and identified nine possibly biologically relevant polymorphisms (BRCA1 Gln356Arg, Pro871Leu, Glu1038Gly, Ser1613Gly, and Met1652Ile. 19661094 2009
Malignant neoplasm of ovary
CUI: C1140680
Disease: Malignant neoplasm of ovary
0.030 GeneticVariation BEFREE The rare form of the Q356R polymorphism was significantly ( P = 0.03) associated with a family history of ovarian cancer, suggesting that this polymorphism may influence ovarian cancer risk. 10196379 1999