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  • A Comprehensive Analysis of the Male Breast Cancer Genome

    Researchers from Weill Cornell Medicine have made significant advances in understanding male breast cancer by conducting the first whole genome sequencing analysis of the disease. Their work focused on the full DNA landscape of tumor samples from 10 patients, revealing distinct alterations in the tumor genome that may point to potential treatment targets. This research is vital as male breast cancer represents less than 1 percent of all breast cancer cases annually, and has been largely overshadowed by its prevalence in women, despite its faster rate of incidence increase in men over the past four decades.

    The Underlying Genetic Landscape
    The findings, published in Modern Pathology highlight several gene mutations and molecular profiles that could influence both diagnosis and treatment strategies. The researchers identified mutations in genes known to propel cancer growth, alongside structural variants affecting five other cancer-associated genes. Notably, variations in the BRCA2 gene, which plays a critical role in DNA repair, were observed in two patients, mirroring a common cause of breast cancer in women.

    An expanded analysis involving 18 additional tumor samples revealed that approximately 21 percent of the tumors exhibited 10 to 20 excess copies of the FGFR1 gene. This gene is associated with treatment-resistant tumors in some female breast cancer cases and represents a potential drug target.

    Potential Treatment Avenues
    The research opens the door to new treatment possibilities, and fortunately, there are available therapies that target the variations detected in 8 of the 10 men. Drugs such as immunotherapy and PARP inhibitors may benefit men with BRCA2*gene variations and a high number of tumor mutations. Additionally, cancer-triggering rearrangements in the NTRK1 gene could respond to kinase inhibitors, highlighting potential avenues for targeted therapies.

    This study emphasizes the need for tailored treatments for this under-researched patient group, and although wider studies will need to validate these results, the findings underscore how personalized treatment strategies are essential for this lesser-examined group.

    Original Publication
    Al Assaad, M., Michaud, O., Semaan, A., Sigouros, M., Tranquille, M., Phan, A., Levine, M. F., Gundem, G., Medina-Martínez, J. S., Papaemmanuil, E., Manohar, J., Wilkes, D., Sboner, A., Hoda, S. A. F., Elemento, O., & Mosquera, J. M. (2024). Whole-Genome Sequencing Analysis of Male Breast Cancer Unveils Novel Structural Events and Potential Therapeutic Targets. Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc, 100452. Advance online publication. https://doi.org/10.1016/j.modpat.2024.100452

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