Breast Cancer Risk Genes Identified in Swedish Study
Author Information
Author(s): Litika Vermani, Elin Barnekow, Wen Liu, Camilla Wendt, Per Hall, Sara Margolin, Annika Lindblom
Primary Institution: Karolinska Institutet
Hypothesis
The analysis of sporadic cases should result in higher odds ratios at loci where the risk is explained by a modifying effect of breast cancer risk caused by certain other risk factors.
Conclusion
The study confirmed known breast cancer risk loci and identified a novel locus that may modify breast cancer risk.
Supporting Evidence
- The analysis confirmed known risk loci on chromosomes 10q26.13, 11q13.3, and 16q12.1.
- A novel locus on chromosome 12p11.21 was identified with an odds ratio of 1.42.
- The study used a sliding-window haplotype GWAS approach to analyze genetic risk.
- Results suggested that the identified loci act as modifiers of breast cancer risk.
Takeaway
Scientists looked at genes in women with breast cancer to find out which ones might increase the risk of getting the disease. They found some genes that are already known to be risky and discovered a new one.
Methodology
A haplotype GWAS was performed using 2550 sporadic breast cancer cases and 5021 healthy controls.
Limitations
The study could not be replicated since no data from other European populations were available for study.
Participant Demographics
The study included 2550 women with sporadic invasive breast cancer and 5021 healthy controls from Swedish cohorts.
Statistical Information
P-Value
4.55 × 10−8
Statistical Significance
p < 5 × 10−8
Digital Object Identifier (DOI)
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