From: Oestrogen receptor α gene haplotype and postmenopausal breast cancer risk: a case control study
Reference | Type of study | Polymorphism | Study size | Population | Main effect on risk | Other results |
---|---|---|---|---|---|---|
Zuppan [1] | Linkage analysis | c.454-351A→G | 11 families | American late-onset familial cases | N/A | Nothing overall, linkage in one family |
Hill [46] | Tumor and normal samples | c.454-397C→T | 188 tumors, 53 reference samples | Not specified | N/A | c.454-397C→T C allele associated with ER- |
Parl [47] | Cases only | c.454-397C→T, c.454-351A→G | 59 cases | 56 'American-white', 3 African-American, 33–87 years | N/A | c.454-397C→T TT were younger at diagnosis (more often poorly differentiated) |
Yaich [13] | Cases only (case-control) | c.454-397C→T | 257/140 | American pre- and postmenopausal | None | c.454-397C→T TT were younger at diagnosis (slightly more often ER-) |
Andersen [41] | Case-control | c.454-397C→T | 360/672 | Norwegian Caucasian, pre- and postmenopausal (27–94 years) | c.454-351A→G: increased risk with G allele | c.454-351A→G G were older at diagnosis, P = 0.25 |
c.454-351A→G | c.454-397C→T: None | c.454-397C→T T more often PR- | ||||
Roodi [11] | Cases only | c.975C→G, c.729C→T | 118 ER+, 70 ER | American | N/A | c.975C→G G associated with family history of breast cancer, P = 0.0005 |
Iwase [43] | Cases only (case-control) | c.975C→G | 13 ER/PR+, 57/30 | British | Increased risk with c.975C→G G, P = 0.057 | |
Southey [49] | Case-control | c.975C→G | 388/294 | Australian early-onset (<40 years) | None | c.975C→G GG v. CC, OR 1.59 (95% CI 0.7–3.6) |
Schubert [48] | Familial cases, case-control | c.975C→G, c.729C→T | 31+139 familial, 105/151 | Caucasian-American and African-American | c.975C→G: No increased risk for familial disease | 28% G in relatives with breast cancer and 24% in unaffected relatives, P = 0.18 |
Curran [30] | Cross-sectional association | c.975C→G | 125/125 | Caucasian-Australian | None | 83% c.975C→G C in cases v. 77% in controls, P = 0.14 |
Vasconcelos [44] | Case-control | c.975C→G | 70/69 | Portuguese | Increased risk with c.975C→G G or GG, OR 2.3 (1.10–5.1) | Fewer lymph node metastases with c.975C→G G or GG, P = 0.038 |
Kang [57] | Case-control | c.975C→G | 110/45 | Korean | None | More often ER+, PR+ and p53 – with c.975C→G G allele |
Comings [50] | Case-control | c.454-351A→G | 67/145 | Mixed American | Did not contribute to breast cancer variance in a multi-gene model | |
Shin [42] | Case-control | c.454-397C→T, c.454-351A→G | 205/205 | Korean | Decreased risk with c.454-351A→G A allele 0.4 (0.3–0.6) | Association stronger among postmenopausal |
Cai [45] | Case-control | c.454-397C→T, c.454-351A→G | 1069/1166 | Shanghai Chinese | Increased risk with c.454-397C→T, TC OR 1.3 (1.0–1.7) and CC OR 1.4 (1.1–1.8) |