Genetics For The Treatment Of Breast Cancer

VIII Conference on Hereditary Breast Cancer.

Addressing hereditary breast cancer from prevention, detection and treatment is the objective addressed at the VIII Conference on Hereditary Breast Cancer, organized by the Spanish Society of Medical Oncology (SEOM), Solti and Geicam. This pathology occurs in up to ten percent of cases, and specialists say that having this hereditary mutation does not mean that the person will develop a tumor, but rather that they are more likely to develop it throughout their lives.

One of the most important aspects during the event is that genetic mutations in BRCA1 and BRCA2 have been detected in 30 percent of women who meet the criteria for this type of cancer, despite the fact that there are other genes involved, such as , among others, PALB2, PTEN, CDH1, TP53, CHEK2 or ATM.


The scientific program of the event has analyzed the new technologies for early detection in breast cancer and which genes should be monitored for the genetic diagnosis of hereditary breast cancer. On the other hand, two practical workshops focused on current issues are held, incorporating advances in translational research into clinical practice.

Practical workshops to evaluate translational research

In addition, two practical workshops focused on current issues are held, incorporating translational research advances into clinical practice: in the first, risk factors and new risk predictive models in healthy women will be discussed. While, in the second, it will work in depth how to interpret the results of tumor genetic studies and the identification of possible germinal alterations. In this way, therapeutic targets can be sought based on the alterations found.

“This program shows that hereditary breast cancer is a paradigm for the comprehensive care of women who develop the disease and their families: we are going to address issues of updating mechanisms of sensitivity and resistance to treatments aimed at patients with an inherited genetic alteration, such as the BRCA1, BRCA2, and PALB2 genes. We will also review which genetic alterations can currently be identified in the patient in order to be able to choose targeted treatments”, highlights Judith Balmaña, head of the hereditary cancer genetics program at the Oncology service of the Vall d’Hebron University Hospital in Barcelona.

Improve early detection in screening

Early detection in screening is another aspect that will be addressed at the conference. The incorporation of artificial intelligence is improving mammographic techniques, with a better evaluation of the risk of breast cancer. For Raquel Andrés, coordinator of the Preventive Treatment, Epidemiology and Inherited Family Cancer Working Group of Geicam and head of the Medical Oncology Section of the Lozano Blesa University Clinical Hospital in Zaragoza, this presentation “is going to be especially important because this population of patients has a very high risk of breast cancer. The tests that we currently have do not always have sufficient sensitivity and specificity to guarantee early detection and these new techniques can contribute a lot”.

In addition, “Mark Tischkowitz, from the University of Cambridge, is going to detail the current situation regarding which genes associated with hereditary breast cancer have proven clinical utility and, therefore, should be included in diagnostic panels. It is a very relevant presentation because not all genetic alterations confer the same risk in the same type of tumors”, details Balmaña, scientific coordinator of the conference on behalf of Solti.

Although it may contain statements, data or notes from health institutions or professionals, the information contained in Medical Writing is edited and prepared by journalists. We recommend the reader that any questions related to health be consulted with a health professional.



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