ArticleJournal of the Egyptian National Cancer Institute2021
Detection of activating mutations in liquid biopsy of Egyptian breast cancer patients using targeted next-generation sequencing: a pilot study.
Article in Journal of the Egyptian National Cancer Institute, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 11 citations in OpenAlex.
- Identifying actionable genetic mutations and microsatellite instability in liquid biopsy of colorectal cancer.Journal, genetic engineering & biotechnology · 2025Article
- Genomic landscapes of breast cancer in African populations: a systematic review.NPJ breast cancer · 2025Review
- The impact of liquid biopsy in breast cancer: Redefining the landscape of non-invasive precision oncology.The journal of liquid biopsy · 2025Review
- Genomic Landscape of Advanced Solid Tumors in Middle East and North Africa Using Circulating Tumor DNA in Routine Clinical Practice.Oncology · 2025Article
- Nutrigenomics and microbiome shaping the future of personalized medicine: a review article.Journal, genetic engineering & biotechnology · 2023Review
- Genomic Landscape Alterations in Primary Tumor and Matched Lymph Node Metastasis in Hormone-Naïve Prostate Cancer Patients.Cancers · 2022Article
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Authors and funding
4 authors at 1 institution in 1 country.
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Abstract
backgroundBreast cancer (BC) is the 2
resultsTwenty-one variants were detected in 15 genes: 7 Substitution-Missense, 12 Substitution-coding silent, and 2 Substitution-intronic. Regarding ClinVar database, out of 21 variants there were 14 benign variants, 3 variants with conflicting interpretations of pathogenicity, 3 variants not reported, and 1 drug response variant. TP53 p.(Pro72Arg) missense mutations were found in 75% of patients. PIK3CA p.(Ile391Met), KDR p.(Gln472His) missense mutations were detected in 25% of patients each. Two patients revealed APC gene missense mutation with p.(Ile1307Lys) and p.(Glu1317Gln) variants. Only one patient showed ATM p.(Phe858Leu) gene mutation and one showed FGFR3 p.(Ala719Thr) variant. Regarding microsatellite instability (MSI) status, 2/8 (25%) patients were MSS, 3/8 (37.5%) patients were MSI-L, and 3/8 (37.5%) patients were MSI-HI.
conclusionIt is essential to use and validate minimally invasive liquid biopsy for activating mutations detection by next-generation sequencing especially in patients with inoperable disease or bone metastasis. This work should be extended with larger patient series with comparison of genetic mutations in liquid-based versus tissue-based biopsy and longer follow up period.
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