ATM Gene Variants and Breast Cancer Risk
Author Information
Author(s): Edvardsen Hege, Tefre Toril, Jansen Laila, Vu Phuong, Haffty Bruce G, Fosså Sophie D, Kristensen Vessela N, Børresen-Dale Anne-Lise
Primary Institution: Rikshospitalet-Radiumhospitalet Medical Centre, Oslo, Norway
Hypothesis
The study investigates the association of genetic variants in the ATM gene with breast cancer risk and radiation-induced adverse side effects.
Conclusion
The study found that variations in the ATM gene may influence the risk of developing breast cancer and the severity of radiation-induced side effects.
Supporting Evidence
- A total of 56 variants were identified in the ATM gene across the studied groups.
- Borderline significant association was found for the 1229 T>C variant with breast cancer risk.
- Significant associations were found between certain variants and radiation-induced adverse side effects.
- Variants were screened using denaturating high performance liquid chromatography followed by sequencing.
Takeaway
This study looked at how changes in a specific gene might affect breast cancer risk and side effects from radiation treatment.
Methodology
The study screened breast cancer patients and controls for ATM gene variants using dHPLC and sequencing.
Limitations
The study's findings need confirmation in larger populations due to the limited sample size.
Participant Demographics
Norwegian breast cancer patients and controls, including American breast cancer patients.
Statistical Information
P-Value
0.055
Statistical Significance
p=0.055
Digital Object Identifier (DOI)
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