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William J. Gradishar, MD, FACP, FASCO
William J. Gradishar, MD, FACP, FASCO
Posted: Wednesday, April 19, 2023
Breast cancer is the leading cause of cancer-related death among women worldwide, and advanced breast cancer requires comprehensive genomic profiling for personalized treatment. However, obtaining tissue biopsy can be challenging in patients with recurrent metastases. At the American Association for Cancer Research (AACR) Annual Meeting 2023 (Abstract 1048/26), Haoran Tang, PhD, of Huidu (Shanghai) Medical Sciences, Ltd, and colleagues reported a comprehensive genomic profiling study using liquid biopsy in patients with advanced breast cancer.
The researchers prospectively investigated the use of liquid biopsy in 220 patients with advanced breast cancer who were naive to first-line treatment. The study applied a next-generation sequencing–based liquid biopsy assay, PredicineCARE, to profile somatic mutations, copy number variations, and gene fusions. The study identified 793 somatic mutations and 283 copy number variants among blood samples from these patients. The most commonly altered genes were TP53 (46%), PIK3CA (35%), BRCA2 (17%), PTEN (12%), and ATM (11%). Additionally, the study reported gene copy number gain incidents on MYC (n = 28), AKT3 (n = 23), FGFR1 (n = 18), and PIK3CA (n = 16) and copy number loss incidents on CDKN2A (n = 17), BRCA1 (n = 12), TP53 (n = 11), RB1 (n = 11), BRCA2 (n = 10), PTEN (n = 9), and ATM (n = 8).
The researchers concluded that liquid biopsy may provide a comprehensive mutational landscape of patients with advanced breast cancer and may offer novel biomarkers for clinical diagnosis and targeted mechanism studies. This research highlights the potential of liquid biopsy as a noninvasive method for genomic profiling in patients with breast cancer, which may ultimately lead to more personalized and effective treatment strategies.
Disclosure: The study authors are employed by Huidu (Shanghai) Medical Sciences, Ltd.
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