Polymorphism in the 5α-reductase gene and breast cancer
Author Information
Author(s): Scorilas A, Bharaj B, Giai M, Diamandis E P
Primary Institution: Mount Sinai Hospital and University of Toronto
Hypothesis
The V89L polymorphism in the human 5α-reductase gene may influence breast cancer prognosis.
Conclusion
The study found that the LL genotype is associated with earlier onset and more aggressive forms of breast cancer.
Supporting Evidence
- 53% of the tumors were homozygous for VV alleles.
- 37% were heterozygous for VL alleles.
- 10% were homozygous for LL alleles.
- PSA expression was significantly elevated in tumors with VV genotype.
- The presence of LL alleles is associated with earlier onset and shorter disease-free and overall survival rates.
Takeaway
This study looked at a gene that might affect breast cancer and found that certain gene variations can lead to worse outcomes.
Methodology
The study examined breast tumors for specific gene polymorphisms and evaluated PSA levels and clinical parameters.
Limitations
Long-term outcome studies are needed to further investigate the relevance of this polymorphism.
Participant Demographics
Italian patients with sporadic breast tumors.
Statistical Information
P-Value
0.013, 0.014
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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