Publications
100P Comprehensive genomic landscape of Asian and African breast cancer (BC) patients (pts)
Abstract
Background Routine comprehensive NGS profiling to guide therapy in BC is limited in Asia and Africa. However, with more biomarker-directed therapies available, and screening programmes with an associated repertoire of biomarker-matched clinical trials, NGS testing to enhance therapy selection in BC is crucial. Methods From Sept 2021- Mar 2025, BC samples from 5 healthcare jurisdictions in Asia and 1 in Africa were analysed using the hybrid-capture assay, UNITEDTM 600, to profile DNA aberrations from 572 cancer-related genes, 71 RNA fusion partners, microsatellite instability and tumour mutation burden (TMB). Actionable alterations were analysed including 9 genes relevant for BC - PIK3CA, AKT1, PTEN, ESR1, ERBB2, BRCA1, BRCA2, PALB2 and KRAS. Results A total of 151 pts were successfully profiled including 36.4% hormone receptor pos, HER2 neg; 15.2% TNBC;11.3% HER2 pos BC and 33.1% unknown. Median age range at diagnosis was 50-59 years with 99.3% females and 0.7% males. Actionable alterations in 1 of 9 genes relevant for BC were observed in 60.9% (92/151) pts. The commonest aberration observed was PIK3CA followed by ERBB2, ESR1, AKT1 and BRCA2 with an incidence of 30.5% (46), 15.2% (23), 14.6% (22), 6% (9) and 6% (9), respectively. Alterations in PTEN, BRCA1, PALB2 and KRAS were observed with a frequency of 5% were RB1 and RAD21.TMB analysis revealed 4.3% samples were TMB high (>10 mutations/Mb) and 60% deemed intermediate TMB (5-10 mutations/Mb). Conclusions Comprehensive NGS profiling is informative to guide therapy selection in patients with BC. Co-occurring actionable mutations are common and further studies with associated clinical outcome data is crucial for prioritization of therapeutic strategies in these pts.
Product Used
Genes
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