Germline variants in the ATM gene and breast cancer susceptibility in Moroccan women : a meta-analysis

Abstract EN

Background: The ATM gene encoding a large protein kinase is mutated in ataxia-telangiectasia (AT), an autosomale recessive disease characterized by neurological and immunological symptoms, and cancer predisposition.

Previous studies suggest that heterozygous carriers of ATM mutations have an increased risk of breast cancer compared with non carriers, but the contribution of specific variants has been difficult to estimate.

However, two functional ATM variants, c.7271T > G and c.1066–6T > G (IVS10–6T > G), are associated with increased risk for the development of breast cancer.

Methods: To investigate the role of ATM in breast cancer susceptibility, we genotyped 163 case patients with breast cancer and 150 healthy control individuals for the c.7271T > G and c.1066–6T > G (IVS10–6T > G) ATM variants using polymerase chain reaction (PCR)-restriction fragment length polymorphism (RFLP) analysis.

Results: We did not detect the ATM c.7271T > G and c.1066–6T > G (IVS10–6T > G) mutations in any of 150 healthy control individuals and 163 breast cancer patients, including 59 women diagnosed with breast cancer at an early age (<40 years), 10 women with bilateral breast cancer, and 6 women with ovarian cancer.

Conclusion: These observations suggested that the more common c.1066–6T > G (IVS10–6T > G) mutation and the rare c.7271T > G variant are not a risk factor for developing breast cancer in the Moroccan population.

Larger and/or combined association studies are needed to clarify this issue.-