Detection of activating mutations in liquid biopsy of Egyptian breast cancer patients using targeted next-generation sequencing: a pilot study.

摘要: BACKGROUND Breast cancer (BC) is the 2nd most prevalent malignancy worldwide and among Egyptian women. The number of newly described cancer-associated genes has grown exponentially since emergence next-generation sequencing (NGS) technology. We aim to identify activating mutations in liquid biopsy breast patients using targeted NGS also demonstrate microsatellite instability (MSI) status BAT25, BAT26, NR27 markers which are tested on Bioanalyzer 2100 system. RESULTS Twenty-one variants were detected 15 genes: 7 Substitution-Missense, 12 Substitution-coding silent, 2 Substitution-intronic. Regarding ClinVar database, out 21 there 14 benign variants, 3 with conflicting interpretations pathogenicity, not reported, 1 drug response variant. TP53 p.(Pro72Arg) missense found 75% patients. PIK3CA p.(Ile391Met), KDR p.(Gln472His) 25% each. Two revealed APC gene mutation p.(Ile1307Lys) p.(Glu1317Gln) variants. Only one patient showed ATM p.(Phe858Leu) FGFR3 p.(Ala719Thr) status, 2/8 (25%) MSS, 3/8 (37.5%) MSI-L, MSI-HI. CONCLUSION It essential use validate minimally invasive for detection by especially inoperable disease or bone metastasis. This work should be extended larger series comparison genetic liquid-based versus tissue-based longer follow up period.