On World Breast Cancer Day, both organizations and citizens joined together to raise awareness of the prevention and early diagnosis of this disease, as well as the importance of research in new therapeutic options to combat it. At present, breast cancer continues to be the leading cause of death from cancer in women in Spain, and it is estimated that one in eight women will have it during their lifetime. According to data of the Spanish Society of Medical Oncology (SEOM), there are around 6,500 deaths a year in the country due to this disease. Despite these figures, the chances of cure can be 100% if detected in time, so early diagnosis of breast cancer is vital.

Techniques in diagnosis and hereditary breast cancer

In CIMA LAB Diagnostics we use two types of massive sequencing panels (NGS, Next Generation Sequencing) with different objectives. One of these is to identify the molecular characteristics of each tumor in order to select the most appropriate personalized treatment for each patient. The other goal is to identify carriers of mutations that increase the risk of hereditary breast or ovarian cancer, in order to make a more personalized clinical follow-up.

Eva Cañada, from our laboratory of Solid Tumors and Hereditary Diseases, explains that breast cancer is a disease that mainly affects women but can also affect men. The geneticist emphasizes that between 5 and 10% of breast cancers are hereditary, so their diagnosis is very important for the person who suffers from it, but also for his or her family members. 

In order to make a diagnosis of susceptibility to hereditary breast cancer, the genes that are related to this cancer subject are studied. Currently a NGS panel of 34 genes is used, including the well-known BRCA1 and BRCA2 (tumor suppressor genes, which when mutated cease to perform this function), but they also analyze another 32 genes whose alterations have been shown to increase the risk of suffering this cancer. Cañada warns that if there are several cases of breast or ovarian cancer in a family, it is important to evaluate in a enquiry of committee genetics whether this study of susceptibility to hereditary breast cancer could be indicated. This test can be indicated, according to the SEOM criteria in two lines: the first, for patients who have already had breast or ovarian cancer and want to know if they can transmit the increased risk of contracting it to their offspring, and the second, for those who want to know if they are susceptible to developing the cancer that members of their family have had.