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Table 1 Previously published studies about oestrogen receptor α gene polymorphisms and breast cancer

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)  
  1. Ranges in parentheses are 95% confidence intervals. ER/PR+/-, oestrogen receptor/progesterone receptor positive/negative; FH, family history; N/A, not applicable; OR, odds ratio.