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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.