Publications
ESMO OpenAug 2025 |
10
105452
DOI:
10.1016/j.esmoop.2025.105452

100P Comprehensive genomic landscape of Asian and African breast cancer (BC) patients (pts)

Heong, V.Y.M.; Chan, J.Y.S.; Weng, R.; Tan, P.H.; Lee, G.E.; Khoo, K-S.; See, H.T.; Wong, S-W.; Poon, D.; Ngo, L.; Tsang, J.W-H.; Amoako, E.; Bediako, Y.; Akakpo, K.; Ofori, E.O.; Rahman, G.; Kittur, H.; Poh, J.; Tan, M-H.
Product Used
Genes
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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