Promising advances in breast cancer diagnosis

The classification of the tumor subtype by molecular analysis contributes to a better prognosis and targeting of a personalized systemic therapy.

In recent years, with the recurring scientific discoveries, the knowledge about breast cancer has evolved significantly. Throughout the study of the natural history of the disease, breast cancer was understood as a complex and heterogeneous disease characterized by the occurrence of multiple molecular changes in addition to epigenetic  and transcription factors involving a multitude of genes and proteins. However, despite such complexity, breast cancer can be detected early and it is in this context that diagnostic tools have been rapidly developed and improved.

In addition to the already known factors  that may be related to disease predisposition such as smoking, alcohol consumption, obesity and a sedentary lifestyle, genetic factors are known to also be closely related to disease predisposition. Currently, some molecular markers are used for the diagnosis, prognosis and prevention of breast cancer. Thus, it is unquestionable that, although unchangeable, genetic factors deserve to be monitored because they can greatly contribute to the decision-making in the diagnosis and prognosis of the disease. In this context, molecular tests stand out in the search for new diagnostic tools, as well as in the support of new treatment guidelines.

Considering the organic tumor individualization associated with the presence of known and unknown risk factors, the tumor characterization such as tumor status, size, intrinsic subtype and number of affected lymph nodes is a factor to be considered in the diagnosis. Intrinsic subtypes, which are closely related to breast cancer prognosis, differ in gene expression profiles and survival rates regardless of recurrence time. In addition to the important contribution in the diagnosis and prognosis, knowing the molecular profile of the tumor may be critical to the successful planning of breast cancer control strategies through early detection.

The earlier an invasive tumor is detected and the treatment is started, the more likely it is to be cured. Fortunately, with the advent of genomic medicine, early detection and characterization of breast cancer, which still are key players in the fight against the disease, have been an increasingly accessible possibility.

Alongside women and tirelessly dedicated professionals in the fight against breast cancer, SYNLAB – Solutions in Diagnostic has developed the Prosigna (PAM50) test, the only test that determines the intrinsic biological subtype of the tumor from a molecular test that analyzes the expression of 50 genes, classifying the tumor into one of following 4 subtypes: Luminal A; Luminal B; HER2-Enriched, basallike. The test also provides risk-of-recurrence (ROR) for the patient based on three factors: tumor size, intrinsic molecular subtype, and tumor proliferation status.

Important international guides (NCCN, ASCO, ESMO), that develop guidelines for the diagnosis and treatment of breast cancer, include the intrinsic subtype classification as an essential parameter in the establishment of the systemic therapy. Thus, the Prosigna (PAM50) test, alongside the personalized genomic medicine, has stood out as an important ally in the fight against breast cancer.


SYNLAB offers a full range of medical laboratory services for practising doctors, clinics and the pharmaceutical industry. The SYNLAB Group is the uncontested leader on the European market for human medicine laboratory services.

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