HER2 polymorphism and breast cancer risk in Portugal

Breast cancer is a major public health problem around the world, and its carcinogenesis is not yet well understood. The human epidermal growth factor Receptor 2 (HER2) seems to play an important role in the development of this neoplasia, and genetic alterations in this gene, such as point mutations and polymorphisms have been detected in breast cancer patients. We analysed the frequency of a single nucleotide polymorphism in the HER2 gene in blood samples from 152 breast cancer patients and 146 healthy controls using the polymerase chain reaction methodology, followed by restriction fragment length polymorphism (PCR-RFLP). We found a twofold increase in risk of breast cancer in women who are carriers of a Val allele genotype-Ile/Val and Val/Val genotypes [odds ratio (OR)=2.00; 95% confidence interval (CI) 1.23-3.25; P=0.005]. Our results indicate an association between the presence of the Val allele in the HER2 polymorphism and the risk of breast cancer. Further studies are needed to evaluate the role of this polymorphism in the behaviour of breast cancer.