The situation of patients with breast cancer has evolved in recent years. Early diagnosisthanks to the national screening program and awareness campaigns, the treatments have enabled an evolution of survival data1. However, it must be remembered that between 15% and 20% of all breast cancers are associated with a family history, and that between 5% and 10% of cases, the tumor is caused by mutations or pathogenic variants germline genetics.
In this context, it is necessary to emphasize that, although stand-alone programs or strategies for hereditary cancer have been developed, There is no specific national plan for this type of pathology. It is also in this type of case that testing and genetic counseling are important, because they would allow preventive and therapeutic measures to be implemented to minimize the impact of breast cancer. This is according to the Hereditary Cancer Code report, presented this year by the MSD-AstraZeneca Alliance and the Hereditary Mama Ovarian Association (AMOH) as part of the campaign The answer to breast cancer may be in your genes.
“Since 2014, genetic counseling has been included in the common portfolio of services of the National Health System6 and in 2021, the SNS Cancer Strategy included a series of priorities and actions aimed at improving attention and management of this problem. In addition, thanks to the encouragement of the authorities, since June 2023 in Spain we have also had the Common Catalog of SNS8 Genetic and Genomic Tests, which represents an indispensable tool and a great boost for the approach to cancer. But where it is possible to prevent it, it is necessary to have a specific national plan for hereditary breast cancer,” he emphasizes. Marta Moreno, Director of Corporate Affairs and Market Access at AstraZeneca.
Marcelo Ruz, secretary of AMOH and member of the report’s advisory committee Hereditary Cancer Codeemphasizes that “it would also be very important for patients if this national genetic counseling program also considered the psychological treatment of this pathologysince it is not only a question of achieving early identification and implementing preventive measures and personalized care, but also of improving the situation of patients and their family members affected by this pathology.
For his part, the Dr. Elena Aguirre Ortega, head of the medical oncology department at the QuirónSalud Hospital in Zaragoza points out that “young women with a close history, such as mothers, sisters or daughters with breast cancer, have a higher likelihood of inheriting/transmitting pathogenic genetic variants linked to breast cancer. And even though these cases only represent about 5 to 10% of diagnosed cases of breast cancer, they should not be forgotten.
Thus, mutations in genes such as BRCA1 and BRCA2, which represent 20 to 25% of mutations responsible for hereditary cancers, significantly increase the risk of breast and ovarian cancer. Other genes involved include TP53, ATM, PALB2 and CHEK2, which also increase the risk. Women with these mutations typically undergo more frequent monitoring and testing. Genetic testing allows identify carriers of these mutations to implement prevention and surveillance strategies.
Renewed campaign image
For all this, hean MSD-AstraZeneca and AMOH alliance strengthen the campaign The answer to breast cancer may be in your genesin which they invite women, through the reflection of their loved ones, to reflect on the importance of genetic testing in the event of a history of breast cancer.
Regarding this aspect, Dr. Rute Álvarezmedical director of the oncology department of MSD in Spain, recalls that “ultimately, it is about better understanding the molecular biology of cancer so that clinicians can adopt all the measures in their power and “improve the prognosis. and treatment of hereditary breast cancer. In addition, this campaign reminds that genetic testing is recommended for women with breast cancer at a very young age, families who have this cancer associated or not with other tumors, women who have both breast and ovarian cancer, and families where there is a male case with breast cancer. Also in women over 50 or 60 years old with triple negative breast cancer, even if they have no family history.
