The other side of the coin: dissecting molecular mechanisms behind hereditary breast cancer in search of therapeutic opportunities

• Main Authors: Stefania Stella, Federica Martorana, Livia Manzella, Paolo Vigneri
• Format: Article
• Language: English
• Published: Elsevier 2021-08-01
• Series: Translational Oncology
• Subjects: Breast cancer; Hereditary; Homologous recombination; Cell cycle; Targeted therapies
• Online Access: http://www.sciencedirect.com/science/article/pii/S1936523321000966

Over the last quarter century several genetic alterations have been implicated in hereditary breast cancer (HBC). Two papers recently published in the New England Journal of Medicine explored the mutation prevalence in breast cancer predisposition genes across a large population of affected and unaffected subjects. These analyses designated ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C and RAD51D as the core set of genes associated with a significantly increased risk of developing breast cancer. A deeper understanding of the biological role of these genes unearths an intricate mechanism involving DNA repair and cell cycle regulation. Exploiting these inherited alterations for targeted treatments, as is currently the case with PARP inhibitors, may provide additional therapeutic opportunities for HBC patients.