Almost 15% of patients with breast and high-grade serous ovarian cancer (HGSOC) undergoing germline genetic testing harbor variants of uncertain significance (VUS) in BRCA1 and BRCA2 genes.1 VUS represent a challenge both for risk assessment and prediction of response to treatments. Tools to assess the functional impact of VUS are needed to evaluate their predictive role of response to DNA-damaging agents. Based on our results, we may speculate that RAD51 assay could successfully predict response to DNA-damaging therapies in patients harboring the VUS c.4096þ1G>A in BRCA1 gene.
Casartelli, C., Tommasi, C., Lazzarin, A., Corianò, M., Tornali, C., Serra, O., et al. (2024). Functional HRD by RAD51 identifies BRCA1 VUS associated with loss of gene function and response to DNA-damaging agents. ESMO OPEN, 9(7), 1-2 [10.1016/j.esmoop.2024.103629].
Functional HRD by RAD51 identifies BRCA1 VUS associated with loss of gene function and response to DNA-damaging agents
Musolino, A.
Co-ultimo
;
2024
Abstract
Almost 15% of patients with breast and high-grade serous ovarian cancer (HGSOC) undergoing germline genetic testing harbor variants of uncertain significance (VUS) in BRCA1 and BRCA2 genes.1 VUS represent a challenge both for risk assessment and prediction of response to treatments. Tools to assess the functional impact of VUS are needed to evaluate their predictive role of response to DNA-damaging agents. Based on our results, we may speculate that RAD51 assay could successfully predict response to DNA-damaging therapies in patients harboring the VUS c.4096þ1G>A in BRCA1 gene.| File | Dimensione | Formato | |
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