Common germline polymorphisms associated with breast cancer-specific survival
Ailith Pirie1, Qi Guo2, Peter Kraft3,4
1Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, 2 Wort's Causeway, Cambridge, CB1 8RN, UK. ap736@medschl.cam.ac.uk.
Breast Cancer Research : BCR
|April 22, 2015
Summary
This study evaluated common germline variants for breast cancer survival. While no variants reached genome-wide significance, some showed nominal association with breast cancer prognosis, particularly in ER-positive cases.
Area of Science:
- Genetics
- Oncology
- Epidemiology
Background:
- Previous studies identified common germline variants linked to breast cancer survival, but these findings lacked replication.
- Genome-wide association studies (GWAS) are crucial for identifying genetic factors influencing cancer outcomes.
Purpose of the Study:
- To evaluate previously reported single nucleotide polymorphisms (SNPs) for association with breast cancer-specific survival.
- To validate findings using a large pooled analysis from multiple breast cancer GWAS.
Main Methods:
- Conducted a literature review to identify SNPs nominally associated (P <0.05) with breast cancer survival outcomes.
- Evaluated 56 candidate SNPs in a pooled analysis of over 37,000 breast cancer cases.
- Utilized one-sided tests based on reported effect directions for association analysis.
Main Results:
- Five variants showed nominal significance (P <0.05) in the pooled GWAS data, exceeding the number expected by chance.
- Seven additional variants were nominally associated with estrogen receptor-positive (ER-positive) breast cancer prognosis.
- No variants achieved genome-wide significance (P <5 x 10(-8)).
Conclusions:
- Suggests potential evidence linking common germline variants to breast cancer prognosis.
- Highlights the need for larger, multinational collaborative studies to increase statistical power.
- Further research is required to confirm associations at more stringent significance levels.
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