Genetic and Clinical Evaluation in Early-Stage Breast Cancer—Preparing for Personalized Treatments (COGNITION Study)

Breast cancer (mammary carcinoma) is a malignant disease of the breast tissue in which certain cells in the breast multiply uncontrollably. In some cases, the rapid growth of cancer cells can be attributed to specific genetic changes (mutations). Treatment of the disease depends on numerous factors, such as the patient’s overall health, the tumor’s growth rate (Ki-67 index), the presence of detectable hormone receptors on the surface of the cancer cells (estrogen receptor-positive, progesterone receptor-positive), and the increased expression of the HER2 protein on the cells (HER2-positive). The stage of the disease is also very important. Starting at stage 4, the disease is considered to have spread to other parts of the body (metastases). Early breast cancer (“early breast cancer (eBC)”), as defined in this study, refers to a condition where the disease is confined to the breast or, at most, affects only a few lymph nodes.

Treatment for early breast cancer typically involves three steps: an initial phase of therapy (neoadjuvant), surgery on the breast and, if necessary, the lymph nodes, and a final phase of therapy (adjuvant), which may involve various medications or radiation therapy. Although this approach offers a very high chance of cure, there are still patients who show renewed disease activity over time (recurrence, i.e., local recurrence or distant metastases). Various characteristics of the disease and the cancer cells may indicate an increased risk of recurrence. New methods for analyzing the properties of tumor cells (molecular genetics) could therefore help to better predict an individual’s risk of recurrence. Based on this, an additional third phase of therapy could represent a further treatment option for reducing risk and improving prognosis. The choice of medication is made based on the tumor’s molecular genetic characteristics.

The goal of this diagnostic/observational study is to investigate, in patients whose breast cancer responds poorly to neoadjuvant therapy, whether certain genetic characteristics can be identified in the tumor tissue that might later enable targeted, individually tailored treatment. To this end, tissue samples from the tumor as well as blood samples will be collected before and after therapy and analyzed using modern molecular genetic methods. No treatment will be provided as part of this study. However, if certain genetic changes are found in the tumor during the analysis, participation in the subsequent COGNITION-GUIDE treatment study—which evaluates a personalized therapy—may be possible. Data will be collected for up to 10 years after the start of participation in the study. The main objective of the study is to establish and utilize a specialized diagnostic platform that allows for a more detailed examination of the genetic characteristics of breast cancer cells. The goal is to identify specific biological markers (biomarkers) that can help select individually tailored treatments.

Women and men aged 18 and older with early-stage breast cancer who are scheduled to undergo neoadjuvant treatment are eligible to participate in the study. If neoadjuvant treatment has already been completed, only patients who had a “non-complete response” (i.e., the tumor did not completely regress) to the treatment are eligible to participate. Patients who have already undergone surgery following neoadjuvant therapy may also participate in the study after adjuvant treatment, provided certain conditions are met. Patients whose breast cancer has recurred at the original site (known as a local recurrence) may also participate in the study—provided the disease can still be treated with the goal of a cure.