The achievements of the genetics against breast cancer - Synlab

The achievements of the genetics against breast cancer

Published by Synlab on 08 May 2024
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In the current scenario of population aging, genomics and personalized medicine are gathering efforts and collecting victories in the fight against breast cancer.

Gynecological cancer has been the protagonist when it comes to women’s health. In this scenario, breast cancer is the most prevalent type of malignancy in women in most parts of the world and the leading cause of death among women in less developed regions. According to the World Health Organization (WHO – International Agency of Research on Cancer), in 2018 there were 2 088 849 new cases of breast cancer in the world.

In Latin America, out of the 730,000 new cases of cancer in women, 27.4% of them were breast cancer. For 2019, approximately 59,700 new cases of breast cancer are estimated in only in Brazil. Lack of information about the disease and the women’s difficulty in having access to diagnostic methods and appropriate and timely treatment are still limiting factors in the fight against breast cancer.

When we consider the current scenario of population aging, breast cancer is also a challenge. Although the survival estimates in Brazil have decreased over the past 9 years, the median age of women at the time of death from breast cancer has increased from 56 to 61 years old. This data represents significant victories in the fight against breast cancer, and it is unquestionable that a considerable portion of these achievements are due to the advancement of science and the development of molecular strategies that culminated in genetic tests, which are promising tools for prevention, predisposition, diagnosis, and treatment of breast cancer.

With the development and progressive improvement of molecular tests, the personalized genomic medicine has been steadily gaining important ground in the fight against breast cancer. SYNLAB – Solutions in Diagnostic, who is closely and diligently following the latest and most innovative information in personalized genomic medicine, has developed a category of tests carefully designed to promote women’s health. Our tests are suitable for patients at different stages of life. In October, which is the month that was chosen to celebrate the international breast cancer awareness campaign, we will present some of our tests that have become key players in this immense breast cancer scenario.

We shall begin with the achievements in the predisposition analysis and prevention field, where genetic panels are currently strong tools. Learning how to prevent breast cancer is an arduous and ongoing task. As stated by Professor Mary-Claire King (2015) during her interview with The New York Times (“The Never-Ending Genetic Quest”) – “Every breast cancer patient we identify after she develops cancer clearly represents a missed opportunity for prevention.”

Currently we known that about 5% to 10% of gynecological cancers are hereditary. However, the interest in knowing the patient’s genetic profile for breast cancer predisposition began only at the end of past decades when researchers noted that, in some families, the occurrence of many cases of breast and ovarian cancer increased the chances of developing the disease in subsequent generations. Initially, in two genes that are involved in maintaining the stability of deoxyribonucleic acid (DNA), genetic variants (mutations) that could lead to hereditary breast and ovarian cancer syndrome were identified: BRCA1 and BRCA2. However, with the rapid and continuous progress of the studies, we already known that there are other genes related to cell cycle control and DNA repair that deserve to be studied. Since then, the possibility of assessing the genetic inheritance factor involved in the breast cancer neoplastic process has become an aspiration of researchers and doctors involved in the fight against breast cancer. An aspiration that has become increasingly stronger in the clinical practice with the arrival of the genetic panels.

Amid the women’s health screening that SYNLAB – Solutions in Diagnostic has developed, the BRCA+ PLUS Test is a noninvasive genetic test that aims to detect specific mutations and small insertions/deletions in 18 genes related to hereditary gynecological cancer. The analyzed genes present solid scientific evidence as well as specific treatment guidelines according to the National Comprehensive Cancer Network (NCCN).

Unlike other panels currently available, the BRCA+ PLUS Test is the only one that performs the analysis of large deletions and duplications for the BRCA1BRCA2 and EPCAM genes, as well as the confirmation analysis for all pathogenic or probably pathogenic mutations. Thus, the BRCA+ PLUS Test is the only genetic panel for the study of gynecological cancer that integrates the three techniques – NGS + MLPA and Sanger bidirectional sequencing, in a single analysis. This unique methodology integration provides the test greater sequencing coverage and depth (never reading less than 20x) and a high level of diagnostic excellence, features valued by SYNLAB.


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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