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Targeted therapies, artificial intelligence and advances in genetic diagnosis change the paradigm of hereditary breast cancer

The VIII Conference on Hereditary Breast Cancer brings together a hundred professionals involved in hereditary cancer, organized by SOLTI and GEICAM, in collaboration with the Familial and Hereditary Cancer Section of the Spanish Society of Medical Oncology (SEOM). Almost all cases of breast cancer are…


The VIII Conference on Hereditary Breast Cancer brings together a hundred professionals involved in hereditary cancer, organized by SOLTI and GEICAM, in collaboration with the Familial and Hereditary Cancer Section of the Spanish Society of Medical Oncology (SEOM).

Almost all cases of breast cancer occur in women, although, very rarely, it can also appear in men. Between 5% and 10% of all breast cancer patients develop it because of a germline (ie hereditary) mutation that predisposes them to this type of tumor. However, 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. The genetic mutations in BRCA1 y BRCA2 –which are the genes most frequently associated with a hereditary family syndrome– are detected in 30% of women who meet the criteria for hereditary breast cancer, although there are other genes involved such as, among others, PALB2, PTEN, CDH1, TP53, CHEK2 o ATM. Hereditary breast cancer usually affects young women and it is estimated that approximately 1 in 400/500 people is a carrier of a mutation in the genes BRCA1 o BRCA2.

The scientific program deals with targeted therapies in hereditary breast cancer, new technologies for early detection of the disease and which genes should be taken into account for the genetic diagnosis of hereditary breast cancer.

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In addition, two practical workshops focused on current issues are held, incorporating advances in translational research to 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 a inherited genetic alteration, such as the BRCA1, BRCA2 and PALB2 genes. We will also review what genetic alterations –whether in the tumor or germline– can currently be identified in the patient in order to choose targeted treatments“, highlights the Dra. Judith Balmaña, responsible for the hereditary cancer genetics program of the Oncology service of the Vall d’Hebron University Hospital in Barcelona.

Improve early detection

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 Dr. Rachel Andrew, coordinator of the GEICAM Preventive Treatment, Epidemiology and Heredofamilial Cancer Working Group and head of the Medical Oncology Section of the Lozano Blesa University Clinical Hospital in Zaragozathis presentation “It’s going to be especially important because this patient population is at very high risk for breast cancer. The tests we currently have don’t always have enough sensitivity and specificity to ensure early detection, and these new techniques can add a lot.”

Also, ehe Dr. Mark Tischkowitz, from the University of Cambridge, is going to detail the current situation on 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 Dr. Balmaña, scientific coordinator of the conference on behalf of SOLTI.

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Importance of practical workshops

The scientific meeting has a marked multidisciplinary character, since medical oncologists, gynaecologists, surgeons and other health professionals participate. The Dr. Elena Aguirre, medical oncologist at Hospital Miguel Servet and Hospital QuirónSalud Zaragoza and member of the Section of Familial and Hereditary Cancer of SEOM, emphasizes that the approachIt is very clinical and multidisciplinary. We want colleagues who do not exclusively treat mutation-carrying patients to know what are the most important characteristics that can impact decision-making or systemic treatment management. Another very important aspect is to have workshops again, which are highly valued by the attendees because they allow them to interact when held in small groups, enriching the discussions“.

Dr. Raquel Andrés, scientific coordinator of the conference on behalf of GEICAM, stresses the importance of the scientific program addressing “different aspects of hereditary breast cancer. We start with treatment, resistance mechanisms, biomarkers of sensitivity to targeted treatments, therapeutic management or treatment decision. And we will review which genes should be taken into account when making a genetic diagnosis. In the workshops, we are going to respond to the main problems that we encounter on a day-to-day basis: more accurately assess risk with the CanRisk model and when should we do a germline study to determine whether or not a cancer is hereditary.”

For Dr. Balmaña, scientific coordinator of the conference on behalf of SOLTI, “it is essential to pool the points of view of the different disciplines and forge alliances so that circuits work and knowledge is shared. We are talking about the care of people with a germinal alteration, which includes not only patients but also their healthy relatives. This involves different specialists, from the laboratory to the clinic, who converge to work and help families. For this reason, it is essential that there is homogeneity in the advances in knowledge brought to clinical practice. This is what these conferences are for.“.

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