The importance of precision medicine in breast cancer

In Chile, more than 5,000 new cases of breast cancer are diagnosed each year. Despite the progress made in the last decade, it still ranks first in the mortality order due to its high incidence and is still the most common type of malignancy in women.

About 5% of patients may present with metastases and 30% progress to this condition, which significantly reduces survival. On average, 5 years after diagnosis, 7% of patients in stage 1 will die, while for those diagnosed in stage 4 the number rises to 72%.

Breast cancer is known to be 80% sporadic, 15% familial, and 5-10% hereditary. There are genes with low, medium and high penetrance, and within those genes are BRCA 1 and 2. Those with mutations in these genes have a much higher risk of developing breast, ovarian, or other cancers. This type of breast cancer begins early (before age 50), can be bilateral, and can occur in men. Therefore, it is essential to properly identify them and refer them to genetic counseling for prevention and appropriate treatment.

In this sense, different types of breast cancer require personalized treatments to get the best results. This correct implementation provides savings to the national health system due to discontinuation of treatment and even, in the early stages, treatment can be considered.

We are in the era of precision medicine, which allows to provide specialized treatment based on the characteristics of cancer. In Chile, we must improve access to these new technologies, to benefit cancer patients and especially women with breast cancer, whether it is sporadic, familial or hereditary.