Common Variants in Breast Cancer Genes and Their Risk
Author Information
Author(s): Caroline Baynes, Catherine S. Healey, Karen A. Pooley, Serena Scollen, Robert N. Luben, Deborah J. Thompson, Paul D. P. Pharoah, Douglas F. Easton, Bruce A. J. Ponder, Alison M. Dunning
Primary Institution: Cancer Research-UK Dept of Oncology, Cancer Research-UK Genetic Epidemiology Unit and EPIC, Strangeways Research Laboratory, Cambridge, UK
Hypothesis
Are common variants in the ATM, BRCA1, BRCA2, CHEK2, and TP53 genes associated with an increased risk of breast cancer?
Conclusion
It is unlikely that there are any other common variants in these genes conferring measurably increased risks of breast cancer in our study population.
Supporting Evidence
- No significant breast cancer associations were detected with any individual or combination of tag SNPs.
- The study included 4,474 breast cancer cases and 4,560 controls.
- The findings suggest that common variants in these genes do not confer a measurable increase in breast cancer risk.
Takeaway
The study looked for common genetic changes in certain breast cancer genes to see if they increase the risk of breast cancer, but found that they probably don't.
Methodology
A comprehensive SNP- and haplotype-tagging association study was conducted using cases from the SEARCH study and controls from the EPIC-Norfolk study.
Limitations
The study may not have excluded all rare variants that could affect breast cancer risk, and some common variants may not have been well tagged.
Participant Demographics
Participants were primarily white, with over 98% of cases and controls being of European descent.
Statistical Information
P-Value
p>0.05
Statistical Significance
p>0.05
Digital Object Identifier (DOI)
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