Mamapop helps identify genetic variations in invasive breast cancer patients

Thanks to Mamapop funding, researchers in Lleida have been able to identify genetic variation schemes in patients with ERBB-2 positive breast cancer, a finding that will improve the treatment of these patients by offering them a more personalised option. The research was recently published in Lecture Notes in Computer Science.

"Between 15-30% of invasive breast cancers have amplifications of the ERBB2 gene. Each patient has their own prognosis based on different characteristics, which is why it is so important to know the specificities and genetic variations in each case in order to offer more effective treatments," explained Serafín Morales Murillo, a doctor in the Medical Oncology Department of the Arnau de Vilanova University Hospital in Lleida (HUAV) and researcher in the Biomedical Research Institute of Lleida (IRBLleida)'s Biomarkers in Cancer Research Group (GReBiC).

The research, conducted by staff from IRBLleida and the Arnau de Vilanova University Hospital in Lleida, analysed the DNA of 47 primary breast cancers, previously classified as ERBB2-positive. This analysis showed a total of 20 pathogenic mutations in 44% of the tumours.

Researchers Izaskun Urdanibia, from the GReBiC group, and Ana Velasco, from the Oncological Pathology group, presented these results at the 10th International Work-Conference on Bioinformatics and Biomedical Engineering (IWBBIO 2023), which is taking place from 12 to 14 July in Gran Canaria.

The Mamapop solidarity concert has funded 4 lines of research at the IRBLleida into the HER2 variant of breast cancer. A research that has been able to benefit about 50 people each year who have been diagnosed with HER2 breast cancer. Specifically, the benefits of Mamapop have made it possible to carry out these 4 lines of research at IRBLleida:

• Project to study mRNA expression as a predictor of response to adjuvant treatment.
• Project to study the expression of primary TILS as a predictor of response to adjuvant treatment.
• Project for mutational analysis of HER2+ tumours.
• Project to study the confirmation of the genomic platform as a predictor of response and prognosis.

Article: Benítez, I. et al. (2023). Targeted Next Generation Sequencing of a Custom Capture Panel to Target Sequence 112 Cancer Related Genes in Breast Cancer Tumors ERBB2 Positive from Lleida (Spain). In: Rojas, I., Valenzuela, O., Rojas Ruiz, F., Herrera, L.J., Ortuño, F. (eds) Bioinformatics and Biomedical Engineering. IWBBIO 2023. Lecture Notes in Computer Science(), vol 13920. Springer, Cham. https://doi.org/10.1007/978-3-031-34960-7_10