ATM Gene and Breast Cancer Risk in Jewish Women
Author Information
Author(s): Koren M, Kimmel G, Ben-Asher E, Gal I, Papa M Z, Beckmann J S, Lancet D, Shamir R, Friedman E
Primary Institution: The Danek Gertner Institute of Human Genetics, Tel-Hashomer, Israel
Hypothesis
Does the ATM gene contribute to breast cancer risk in high-risk Jewish women?
Conclusion
A specific ATM SNP and haplotype are associated with increased breast cancer risk in high-risk non-Ashkenazi Jews.
Supporting Evidence
- Four ATM haplotypes accounted for 85% of all haplotypes observed.
- SNP rs228589 was significantly more prevalent among breast cancer cases compared to controls.
- One discriminative ATM haplotype was found in 33.3% of breast cancer cases versus 3.8% of controls.
- Participants were screened to ensure they did not carry common BRCA1/2 mutations.
Takeaway
This study found that certain genetic variations in the ATM gene can increase the risk of breast cancer in Jewish women who are at high risk.
Methodology
The study involved haplotyping of the ATM locus in high-risk individuals and controls of non-Ashkenazi Jewish origin, using SNP genotyping.
Potential Biases
Potential bias due to the selection of participants from a high-risk clinic.
Limitations
The study analyzed a small, highly selected population of non-Ashkenazi Jewish women from a single medical center, limiting generalizability.
Participant Demographics
Participants included 260 unrelated women of non-Ashkenazi Jewish origin, with 142 considered high-risk for breast cancer.
Statistical Information
P-Value
4 × 10−9
Confidence Interval
95% CI (3.69–14.05)
Statistical Significance
p<0.05
Digital Object Identifier (DOI)
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