On May 31, 2024 Inocras Inc., a leader in whole genome sequencing (WGS) diagnostics and precision medicine, reported groundbreaking research on radiogenomics and homologous recombination deficiency (HRD) in breast cancer at the American Society of Clinical Oncology (ASCO) (Free ASCO Whitepaper) Annual Meeting (Press release, Inocras, MAY 31, 2024, View Source [SID1234643914]).
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In collaboration with Samsung Medical Center and St. Mary’s Hospital, Inocras’ research study recruited 145 women with invasive breast cancer. Researchers utilized dynamic contrast-enhanced (DCE) breast MRI to explore the relationship between HRD and specific radiomic features.
HRD, a crucial target in breast cancer treatment, involves key genes known as BRCA1 and BRCA2, whose pathogenic mutations are crucial features for selecting poly (ADP-ribose) polymerase inhibitors (PARPi) treatment. Although BRCA1/2 germline mutations are rare (1%-5%), WGS has revealed that up to 22% of breast cancers display HRD-like genomic characteristics. The study utilized a WGS-HRD approach to identify and validate radiomic features with predictive value for HRD, highlighting their potential as non-invasive imaging biomarkers for primary HRD screening1.
"This research underscores the transformative impact of WGS-based HRD testing, allowing for a more comprehensive view of HRD and the development of better evaluation and screening tools," said Inocras co-founder Jeong Seok Lee.
Combining WGS-powered genomic data with radiomic insights may enhance the accuracy of HRD screening and optimize treatment strategies. This approach has the potential to benefit a wider range of breast cancer patients, extending beyond those with detectable BRCA1/2 germline mutations, and to advance personalized medicine in oncology.
1. Joonoh Lim et al, Advancing cancer MRD monitoring through tumor whole-genome informed, duplex ctDNA sequencing. J Clin Oncol 42, 2024 (suppl 16; abstr e15044) 10.1200/JCO.2024.42.16_suppl.e15044