GSTP1 Polymorphisms and Breast Cancer Risk in BRCA1/2 Carriers
Author Information
Author(s): L. Kadouri, Z. Kote-Jarai, A. Hubert, M. Baras, D. Abeliovich, T. Hamburger, T. Peretz, R. A. Eeles
Primary Institution: Hebrew University-Hadassah Medical Center
Hypothesis
The study investigates the effect of glutathione-S-transferase polymorphisms on breast cancer risk in BRCA1/2 mutation carriers.
Conclusion
The study found that the GSTP1-Val allele is associated with a significantly elevated risk of breast cancer in BRCA2 mutation carriers.
Supporting Evidence
- The GSTP1-Val allele was associated with approximately twofold breast cancer risk in BRCA1/2 carriers.
- BRCA2 carriers with the Val/Val genotype had a significantly higher risk of breast cancer.
- The study included a diverse population of BRCA1/2 carriers from different origins.
Takeaway
This study looked at how certain genes might affect the risk of breast cancer in people with specific genetic mutations, finding that one gene variant increases the risk.
Methodology
The study involved genotyping 320 BRCA1/2 carriers and analyzing breast cancer risk using Cox proportional hazard models.
Potential Biases
Selection bias may have influenced the results due to the study design.
Limitations
The study may have survival bias due to including only individuals who were alive at the time of the study.
Participant Demographics
Participants included 320 BRCA1/2 carriers, primarily of Ashkenazi origin.
Statistical Information
P-Value
0.01
Confidence Interval
95% CI 1.18–3.38
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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