A genetic variant, in an immunity-related gene, that increases the risk of death from a specific type of breast cancer has been identified. The work, published in Nature Communications, highlights the importance of the immune system in breast cancer prognosis and sheds light on the genetic basis of the disease outcome after chemotherapy treatment.
Previous studies have shown that breast cancer survival rates correlate amongst family members and that the immune system may affect how patients respond to chemotherapy and influence their overall prognosis.
Kamila Czene and colleagues have looked for associations between genetic variants that exert an effect on genes involved in the immune system and inflammation, and breast cancer survival. Their research, on a large group of women with estrogen receptor negative (ER-) breast cancer who have undergone chemotherapy treatment, identified a genetic marker in CCL20-a chemokine gene involved in immune response and migration and proliferation of breast cells-that increases the risk of breast cancer-specific death.
This marker explains a small fraction of the variation associated with breast cancer survival, which suggests that much larger studies will be needed to fully understand the genetic basis of ER- breast cancer prognosis. This work provides an important step towards the identification of genes which could be targeted therapeutically to improve the prognosis of breast cancer patients undergoing treatment.