Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence
2007

ATM Gene Variants and Breast Cancer Risk

Sample size: 272 publication Evidence: moderate

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)

10.1186/1748-717X-2-25

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