engleski

The role of genetic testing in breast cancer patients undergoing neoadjuvant treatment

Pathologic complete response (pCR) after neoadjuvant systemic treatment appears to be a valid surrogate for better overall survival in breast cancer patients. Together with standard clinicopathologic assessment novel molecular biomarkers and genetic mutations are being tested in order to look into the heterogeneity of breast cancer. Advances in molecular genetics have identified a number of genes associated with inherited susceptibility to breast and ovarian cancer (BRCA1/2, TP53, PALB2, CHECK2, ATM, LZTR1, MSH6, BRIP1, AIP). The aim of our study was to find pathogenic mutations before making a treatment plan for patients undergoing neoadjuvant treatment. On a small number of patients we found a significant number of pathogenic and likely pathogenic variants with high clinical relevance. Germline BRCA1 and BRCA2 mutations are frequently detected among patients with TNBC, a subgroup that can benefit most from a new therapeutic options. Small, pivotal trial has shown promising results of pathologic complete reponse with talazoparib monotherapy as a neoadjuant treatment in germline BRCA mutation carriers. In our small subset of patients with BRCA1 and BRCA2 mutations, all patients were subjected to radical mastectomy instead of breastconserving surgery, regardless of good response to neoadjuvant chemotherapy.

Breast cancer, neoadjuvant therapy, genetic testing

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