19-de-octubre-dia-internacional-de-lucha-contra-el-cancer-de-mama

The approach to breast cancer has experienced a revolution in the last 20 years, thanks to which treatments have been improved, achieving a cure rate of more than 90% of cases.

Advances in early detection not only offer hope for earlier and more accurate diagnosis, but also open the door to a more preventive rather than reactive approach.

AI emerges as a technological ally when it comes to early detection:

In search of optimizing resources, screening strategies are incorporating artificial intelligence (AI). The first international studies - in the experimental stage - to evaluate its effectiveness show good results in terms of its safety and accuracy when interpreting imaging studies. And at the same time, they give clear indications that it reduces diagnosis times, by significantly improving the visual interpretation of breast ultrasounds, offering greater precision and potentially reducing the need to perform biopsies in benign lesions. This technology has a sensitivity of 98%, and is highly beneficial for improving the detection of lesions that could simulate benignity, thus avoiding underdiagnosis, which would imply losing the possibility of attacking the tumor in its initial stages, when cure rates exceed 90%.

How does this technology work? Once the radiologist detects a lesion, the system maps the suspicious images. Through the use of intelligent machine learning algorithms, the information is processed and a calculation on the probability of malignancy is generated, classifying the lesions studied according to the level of risk that each one represents.

Genetic testing for breast cancer:

The BRCA1 and BRCA2 genetic test integrates a next-generation sequencing panel that allows a complete evaluation of predisposition mutations to hereditary breast cancer in these two highly penetrant genes, which increase the risk of suffering from it. Complete sequencing and analysis of deletion (genetic mutation) or duplications of both genes is achieved.

It is recommended to do it when there is:

  • Diagnosis of breast cancer at an early age (≤45 years) or bilateral breast cancer
  • Two primary breast cancers, or the presence of breast and ovarian cancer
  • Breast or prostate cancer in male patients
  • Ovarian cancer at any age

People who inherit harmful variants in one of these genes have an increased risk of several types of cancer, especially breast cancer and ovarian cancer. People who inherit a harmful variant in BRCA1 and BRCA2 also tend to develop cancer at a younger age than those who do not have it.

Liquid biopsy in breast cancer:

Liquid blood biopsy is used today in patients with metastatic breast cancer for the detection or monitoring of some mutations, but it still has little sensitivity as a tool for early diagnosis or in predicting relapses, since a high number of Circulating tumor DNA in blood is needed to be detected.

Recently, a study has shown for the first time that the breast milk of breast cancer patients contains tumor DNA, known as circulating tumor DNA (ctDNA). This ctDNA can be detected through liquid biopsy in breast milk and could become a new tool for early diagnosis of breast cancer in the postpartum period.

Physiological changes that occur during pregnancy and postpartum make tumors more difficult to detect; and biologically, tumors in the postpartum are more aggressive. Researchers believe that this sample of breast milk could serve in the future as a method for early diagnosis of breast cancer in the postpartum. In the same way that the heel test is performed on all newborns, it could be considered collecting a sample of breast milk from all women after giving birth to perform breast cancer screening.

For now, we hope that medicine and technology will come together to transform the way we approach early detection, a powerful tool in preserving health, and preventing this disease.

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