Genetic Variations in Cell Cycle Genes and Breast Cancer Survival
Author Information
Author(s): Azzato Elizabeth M, Driver Kristy E, Lesueur Fabienne, Shah Mitul, Greenberg David, Easton Douglas F, Teschendorff Andrew E, Caldas Carlos, Caporaso Neil E, Pharoah Paul D P
Primary Institution: Department of Oncology, University of Cambridge
Hypothesis
Common germline genetic variation in cell cycle control genes is associated with breast cancer survival.
Conclusion
The study suggests that the CCND3 rs2479717 variant may be linked to breast cancer prognosis.
Supporting Evidence
- The rare allele of SNP rs2479717 is associated with an increased risk of death.
- Elevated expression of the C6orf49 transcript was linked to better breast cancer survival.
- Genotyping was performed on DNA from 4,470 women diagnosed with invasive breast cancer.
- Survival analysis showed significant associations with specific genetic variants.
- Follow-up data was collected through hospital information systems and general practitioners.
- Median follow-up time was approximately 7.5 years.
- Results were consistent across multiple analyses and datasets.
- Further studies are needed to validate the findings.
Takeaway
This study looked at how certain genes might affect how long women live after being diagnosed with breast cancer. They found that a specific gene variant could mean a higher risk of dying from the disease.
Methodology
The study used Cox regression analysis to examine the association between genetic variations in 13 cell cycle control genes and survival in women diagnosed with invasive breast cancer.
Potential Biases
Potential bias due to the inclusion of prevalent cases and reliance on death certificate data for cause of death.
Limitations
The study included prevalent cases, which may introduce bias, and relied on all-cause mortality, which could reduce statistical power.
Participant Demographics
More than 99% of participants were Caucasian, with a median age at diagnosis of 51 years.
Statistical Information
P-Value
0.0001
Confidence Interval
1.12 to 1.42
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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