identify the risk of hereditary breast cancer

2024-01-24 08:11:06

Between 5% and 10% of breast cancer cases, the tumor is produced by germline genetic mutations or pathogenic variants and it is, precisely, in these patients where genetic tests become especially important to identify the risk of suffering from breast cancer. hereditary breast.

Painting that reflects a woman breastfeeding her baby after having overcome breast cancer/EFE/Miguel Rajmil

The MSD-AstraZeneca Alliance and the Hereditary Mamma Ovarian Association (AMOH) have promoted the campaign ‘The answer to breast cancer could be in your genes’ and the report ‘Hereditary Cancer Code’ with the purpose of raising awareness of how genetic tests help prevent hereditary breast cancer.

Both projects show how thanks to these tools Preventive and therapeutic measures can be developed to minimize the impact of said disease.

In this sense, both institutions come together with several objectives, among which the following stand out: give visibility to hereditary breast cancer, detect existing challenges and propose actions and recommendations that will allow us to improve the approach to this tumor in the coming years, especially in early stages.

Martha Moreno, Director of Corporate Affairs and Market Access at AstraZeneca states: “The advances that are being produced in recent years on the biology and genetic predisposition to suffer from cancer make it necessary to increase training among health professionals and the general society in order to improve the care provided to patients and promote precautionary measures”.

What is hereditary breast cancer?

Hereditary breast cancer differs from familial breast cancer in that The first is produced by a germline genetic pathogenic mutation or variant.while in the second, although there are several members of a family affected by the disease, a genetic pathogenic variant is not identified and its appearance may be due to other factors such as, for example, lifestyle.

It is very important to inform the people who are identified germline pathogenic variant that there is a 50% chance to pass it on to their offspring.

That is why, through this collaboration, the experts of the alliance MSD–AstraZeneca y AMOH they analyze the improvement areas that exist for optimize the management of these patients.

Genetic tests, lifesaving tools

In this scenario, genetic analyzes or tests play an essential role, although they are usually complex, so you have to make a very specific selection of those families considered high risk.

The report ‘Hereditary Cancer Code’ highlights the importance of explain to people with hereditary breast cancer who are going to undergo genetic testing the impact thatboth for them and their families, can have a positive result.

Likewise, professionals must ask them, depending on whether they are men or women, the prevention and follow-up measures that are necessary, such as: mammograms, MRIs or preventive surgeries.

The Dr. Ana Beatriz Sánchez Heras, coordinator of the Cancer Genetic Counseling Unit of the General University Hospital of Elche and coordinator of the SEOM Section of Hereditary Cancer and member of the Advisory Committee of the report ‘Hereditary Cancer Code’, explains that currently there are variations in access to genetic tests depending on the autonomous community of the patient.

Therefore, there are points or regions where reaching the corresponding treatment unit requires a longer or steeper path because resources are more limited.

Experts advocate updating and applying measures for Cancer Genetic Counseling Unitsespecially with regard to waiting times, so that the minimum required quality criteria can be achieved and ensure equitable access throughout the country.

(From left to right, Dr. Pedro Pérez Segura, head of the Oncology Service at the San Carlos Clinical Hospital in Madrid and member of the Advisory Committee of the ‘Hereditary Cancer Code’ report; Marta Moreno, director of Corporate Affairs and Market Access of AstraZeneca; Marisa Cots, president of AMOH and member of the Advisory Committee of the ‘Hereditary Cancer Code’ report; Dr. Rute Álvarez, medical director of Oncology at MSD in Spain, and Dr. Ana Beatriz Sánchez Heras, coordinator of the Genetic Counseling Unit in Cancer at the General University Hospital of Elche, coordinator of the SEOM Section of Hereditary Cancer and member of the Advisory Committee of the report ‘Hereditary Cancer Code’) / Photo provided

Other recommendations from the experts

• The report advises promote the updating of guidelines and protocols on the hereditary cancer process from a multidisciplinary point of view, paying special attention to the patients’ gaze. It is advisable to include, for example indicators for monitoring results and objectives.

• Furthermore, it is considered necessary update the training and knowledge of professionals y healthcare managers about hereditary cancer.

• Another recommendation is launch of debate forums on the activity of the Cancer Genetic Counseling Units that allow the exchange of experiences, generation of work networks or greater awareness among medical students.

• Work to develop reliable and accessible information platforms for patients and family members affected by hereditary cancer, incorporating the knowledge of patient associations.

• Create an Observatory on Hereditary Cancer in Spainwhich allows monitoring of results related to improving the quality of health care.