CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study

Chang, Jiun-Horng, Gertig, Dorota M., Chen, Xiaoqing, Dite, Gillian S., Jenkins, Mark A., Milne, Roger L., Southey, Melissa C., McCredie, Margaret R. E., Giles, Graham G., Chenevix-Trench, Georgia, Hopper, John L. and Spurdle, Amanda B. (2005) CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study. Breast Cancer Research, 7 4: R513-R521. doi:10.1186/bcr1040


Author Chang, Jiun-Horng
Gertig, Dorota M.
Chen, Xiaoqing
Dite, Gillian S.
Jenkins, Mark A.
Milne, Roger L.
Southey, Melissa C.
McCredie, Margaret R. E.
Giles, Graham G.
Chenevix-Trench, Georgia
Hopper, John L.
Spurdle, Amanda B.
Title CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study
Formatted title
CYP17 genetic polymorphism, breast cancer, and breast cancer risk factors: Australian Breast Cancer Family Study
Journal name Breast Cancer Research   Check publisher's open access policy
ISSN 1465-5411
1465-542X
Publication date 2005
Sub-type Article (original research)
DOI 10.1186/bcr1040
Open Access Status DOI
Volume 7
Issue 4
Start page R513
End page R521
Total pages 9
Place of publication London, United Kingdom
Publisher BioMed Central
Language eng
Formatted abstract
Introduction:
Because CYP17 can influence the degree of exposure of breast tissues to oestrogen, the interaction between polymorphisms in this gene and hormonal risk factors is of particular interest. We attempted to replicate the findings of studies assessing such interactions with the -34T→C polymorphism.

Methods:

Risk factor and CYP17 genotyping data were derived from a large Australian population-based case-control-family study of 1,284 breast cancer cases and 679 controls. Crude and adjusted odds ratio (OR) estimates and 95% confidence intervals (CIs) were calculated by unconditional logistic regression analyses.

Results:

We found no associations between the CYP17 genotype and breast cancer overall. Premenopausal controls with A2/A2 genotype had a later age at menarche (P < 0.01). The only associations near statistical significance were that postmenopausal women with A1/A1 (wild-type) genotype had an increased risk of breast cancer if they had ever used hormone replacement therapy (OR 2.40, 95% CI 1.0 to 5.7; P = 0.05) and if they had menopause after age 47 years (OR 2.59, 95% CI 1.0 to 7.0; P = 0.06). We found no associations in common with any other studies, and no evidence for interactions.

Conclusion:

We observed no evidence of effect modification of reproductive risk factors by CYP17 genotype, although the experiment did not have sufficient statistical power to detect small main effects and modest effects in subgroups. Associations found only in subgroup analyses based on relatively small numbers require cautious interpretation without confirmation by other studies. This emphasizes the need for replication in multiple and large population-based studies to provide convincing evidence for gene–environment interactions.
Q-Index Code C1
Q-Index Status Provisional Code
Institutional Status Non-UQ

Document type: Journal Article
Sub-type: Article (original research)
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