Screening and association testing of common coding variation in steroid hormone receptor co-activator and co-repressor genes in relation to breast cancer risk: the Multiethnic Cohort

2009

Breast Cancer Risk and Genetic Variations in Hormone Receptor Genes

Sample size: 215251 publication 10 minutes Evidence: moderate

Author Information

Author(s): Haiman Christopher A, Garcia Rachel R, Hsu Chris, Xia Lucy, Ha Helen, Sheng Xin, Le Marchand Loic, Kolonel Laurence N, Henderson Brian E, Stallcup Michael R, Greene Geoffrey L, Press Michael F

Primary Institution: University of Southern California

Hypothesis

Coding variation in steroid receptor coactivator and corepressor genes may alter inter-individual response to estrogen and serve as markers of breast cancer risk.

Conclusion

Common coding variation in these candidate genes does not make a substantial contribution to breast cancer risk in the general population.

Supporting Evidence

Identified 45 coding variants with frequencies ≥ 1% in any one ethnic group.
Observed nominally significant positive associations with two coding variants in ethnic-pooled analyses.
Findings suggest that common coding variation in these candidate genes does not significantly contribute to breast cancer risk.

Takeaway

This study looked at how certain genes might affect the risk of getting breast cancer, but found that these genes don't really change the risk for most people.

Methodology

The study sequenced the coding exons of 17 genes in a multiethnic panel of women with advanced breast cancer and conducted association testing in a nested case-control study.