The medical oncologist of Hospital Universitario Vall d'Hebron-VHIO Judith Balmaña has underlined the relevance of precisely establishing which women should have access to genetic breast cancer studies and of ensuring that the results are obtained quickly so that they can be integrated in time into therapeutic decisions.
She has shared these reflections at the XII Jornada en Cáncer de Mama Hereditario, held in Madrid and organized by the research groups GEICAM and Solti, together with the Hereditary Cancer Section of the Sociedad Española de Oncologiá Médica (SEOM).
More than a hundred specialists in medical oncology, clinical genetics, gynecology, surgery, radiology and other related areas have attended the meeting. At this forum, advances in the genetic knowledge of breast cancer and its impact on prevention, diagnosis and treatment options have been reviewed, in addition to analyzing the challenges that persist.
In relation to genetic studies, Balmaña has emphasized the importance of having multidisciplinary teams that facilitate extending genetic counseling to the relatives of people carrying hereditary alterations, in order to strengthen prevention and early detection.
One of the central axes of the debate has been the possibility of broadening the indication of germline genetic tests to all patients with a diagnosis of breast cancer, given that the detection of certain hereditary alterations has made it possible to select specific therapies.
The medical oncologist of Hospital Clínic Teresa Ramón y Cajal has stressed that the survival benefit demonstrated with olaparib, a targeted treatment that acts on the DNA repair mechanisms of tumor cells, in patients with a high risk of relapse and certain hereditary mutations, has reinforced the need to identify the women who can take advantage of these therapies.
Nevertheless, she has recalled that these advances coexist with the limitations of the classic criteria based on family history, which can leave out some patients with a genetic predisposition to cancer.
New avenues of prevention and challenges to be resolved
Regarding primary prevention in women with hereditary predisposition, Balmaña has pointed out that risk-reducing mastectomy remains one of the main strategies, although she has emphasized that pharmacological research is opening up additional alternatives and has specifically mentioned the "great advances in indicating precision preventive therapies".
For her part, the international specialist in medical genetics and hereditary cancer Rachel Michaelson-Cohen has focused her intervention on the main challenges of primary prevention in women with hereditary predisposition, with special attention to carriers of pathogenic variants in the BRCA1 and BRCA2 genes.
"The challenge is to move toward more personalized prevention strategies, which combine the available preventive options with new alternatives under research," she emphasized. Next, she presented some of the most promising lines of work in this field, such as the "BRCA-P" trial, which studies the use of denosumab in BRCA1 carriers, as well as the potential of preventive vaccines, immunoprevention and genomic tools.
Progress in the treatment of hereditary breast cancer
The medical oncologist at Hospital Quirónsalud Zaragoza Elena Aguirre has analyzed the advances in the therapeutic approach to hereditary breast cancer. In localized disease, she has indicated that the early incorporation of genetic results has helped to refine surgical decisions.
In this context, she has highlighted the contribution of the "OlympiaN" and "TBCRC-056" studies, which have investigated strategies with targeted treatments, as monotherapy or combined with immunotherapy, that could make it possible to avoid chemotherapy in certain initial HER2-negative tumors with hereditary alterations in genes such as BRCA1/2 or PALB2.
In the advanced disease setting, she has emphasized that PARP inhibitors represent one of the key advances in HER2-negative tumors with germline BRCA1/2 mutations, while the identification of other alterations related to DNA repair has broadened the range of precision treatments available.
Even so, Aguirre has pointed out that challenges persist in translating all genetic knowledge into more effective and personalized therapies. He has also emphasized the need to increase therapeutic options for patients without genetic alterations susceptible to specific treatments and to refine risk estimation, as well as follow-up and prevention strategies.
Looking to the future, he has defended "comprehensive precision oncology", which encompasses early diagnosis and a more refined selection of targeted therapy, along with the reduction of toxicities, with the aim of improving the prognosis and quality of life of patients and their families.