ATM variants 7271T>G and IVS10-6T>G among women with unilateral and bilateral breast cancer

2003

ATM Gene Mutations and Breast Cancer Risk

Sample size: 1149 publication 10 minutes Evidence: moderate

Author Information

Author(s): Bernstein J L, Bernstein L, Thompson W D, Lynch C F, Malone K E, Teitelbaum S L, Olsen J H, Anton-Culver H, Boice J D Jr, Rosenstein B S, Børresen-Dale A-L, Gatti R A, Concannon P, Haile R W

Primary Institution: Mount Sinai School of Medicine

Hypothesis

Do the ATM gene mutations 7271T>G and IVS10-6T>G increase breast cancer risk among women with bilateral breast cancer compared to those with unilateral breast cancer?

Conclusion

The study found that the prevalence of the ATM gene mutations 7271T>G and IVS10-6T>G was low among women with both unilateral and bilateral breast cancer, suggesting these mutations may not significantly contribute to breast cancer risk in this population.

Supporting Evidence

The study included 511 women with bilateral breast cancer and 638 with unilateral breast cancer.
The prevalence of the 7271T>G mutation was found in 0.16% of unilateral cases and 0.19% of bilateral cases.
The IVS10-6T>G mutation was found in 1.25% of unilateral cases and 0.19% of bilateral cases.

Takeaway

This study looked at two specific gene changes in women with breast cancer to see if they made them more likely to get the disease. They found that these changes were not very common.

Methodology

The study analyzed 1149 women from a population-based case-control study, comparing those with bilateral breast cancer to those with unilateral breast cancer for the presence of ATM gene mutations.