Association of common ATM variants with familial breast cancer in a South American population

2008

ATM Gene Variants and Breast Cancer Risk in Chile

Sample size: 337 publication 10 minutes Evidence: moderate

Author Information

Author(s): Patricio González-Hormazábal, Teresa Bravo, Rafael Blanco, Carlos Y Valenzuela, Fernando Gómez, Enrique Waugh, Octavio Peralta, Waldo Ortuzar, Jose M Reyes, Lilian Jara

Primary Institution: Human Genetics Program, Institute of Biomedical Sciences (ICBM), School of Medicine, University of Chile

Hypothesis

Do common variants of the ATM gene increase the risk of familial breast cancer in a South American population?

Conclusion

Certain genetic variants in the ATM gene are associated with an increased risk of breast cancer in Chilean women.

Supporting Evidence

Carriers of the IVS38-8T>C variant showed a significant increase in breast cancer risk.
The composite genotype IVS24-9 T/(-T), IVS38-8 T/C, 5557 G/A conferred a 3.19 fold increase in breast cancer risk.
The study included a total of 137 breast cancer patients and 200 controls.

Takeaway

Some changes in a gene called ATM can make people more likely to get breast cancer, especially in families with a history of the disease.

Methodology

The study involved mutation analysis of the ATM gene in 137 breast cancer patients and a case-control study comparing 126 BRCA1/2 negative cases with 200 controls.