Multiplex detection of ten ESR1 mutations and AKT1 E17K in breast cancer using digital PCR

The Journal of Liquid Biopsy, Journal Year: 2024, Volume and Issue: 5, P. 100154 - 100154

Published: March 30, 2024

ESR1 mutations are now established as a key mechanism of resistance to endocrine therapy in estrogen-receptor-positive breast cancer (ER​+ ​breast cancer) and their sensitive specific detection plasma-cell free DNA (plasma-cfDNA) is crucial monitor during patient treatment. In the present proof-of-principle study, we evaluated performance novel multiplex assay (12plex) for ten AKT1 E17K plasma-cfDNA based on Crystal Digital PCR® (Stilla Technologies, France). We analyzed 35 samples from ER+ patients 10 healthy donors further compared results with our previously reported NAPA D538G, Y537S, Y537C Y537 N mutations. Using this 12plex ESR1-AKT 6-color detected both D538G 5/35 (14.3%) samples. was 4/35 (11.4%) these using assay. Direct comparison between PCR™ revealed high concordance (97.1%, k = 0.871, p < 0.001) mutation. The Stilla multiplex, highly robust can be used liquid biopsy.

Language: Английский

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Ultrasensitive detection of circulating tumor DNA using a CRISPR/Cas9 nickase-driven 3D DNA walker based on a COF-AuNPs sensing platform

Microchimica Acta, Journal Year: 2024, Volume and Issue: 191(11)

Published: Oct. 15, 2024

Language: Английский

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Recent advances in the use of liquid biopsy for the diagnosis and treatment of lung cancer

Expert Review of Respiratory Medicine, Journal Year: 2024, Volume and Issue: unknown, P. 1 - 11

Published: Nov. 3, 2024

Introduction In the era of precision medicine, liquid biopsy rapidly emerges as an integrative diagnostic tool to successfully stratify solid tumor patients in accordance with molecular fingerprinting. As matter fact, a plethora analytes may be isolated from biosources supporting potential application several clinical scenarios. Despite this promising role, is drastically affected by low abundance biological matrix requiring highly sensitive technologies, trained personnel, and optimized procedures administrate revolutionary practice.

Language: Английский

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Circulating Tumor DNA in Early and Metastatic Breast Cance—Current Role and What Is Coming Next

Cancers, Journal Year: 2024, Volume and Issue: 16(23), P. 3919 - 3919

Published: Nov. 22, 2024

The progress that has been made in recent years relation to liquid biopsies general and circulating tumor DNA (ctDNA) particular can be seen as groundbreaking for the future of breast cancer treatment, monitoring early detection. Cell-free (cfDNA) consists fragments released by various cell types into bloodstream. A portion this cfDNA, known ctDNA, originates from malignant cells carries specific genetic mutations. Analysis ctDNA provides a minimally invasive method diagnosis, response therapy, detecting emergence resistance. Several methods are available analysis each with distinct advantages limitations. Quantitative polymerase chain reaction is well-established technique widely used due its high sensitivity specificity, particularly In addition detection individual mutations, multigene analyses were developed could detect several mutations at once, including rarer These complementary strategically depending on clinical question. context metastatic cancer, holds promise it allows dynamic evolution. Through analysis, ESR1 or PIK3CA genes, which associated therapy resistance, identified. This enables adjustment treatment potential significantly enhance outcome. application an ongoing investigation. (neo)adjuvant settings, there preliminary data indicating risk stratification decide post-neoadjuvant strategies. aftercare, appears months ahead routine imaging. However, feasibility implementing approach setting remains seen. While use screening asymptomatic population would highly advantageous nature, benefit still insufficient. Nevertheless, represents most promising avenue fulfilling need.

Language: Английский

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Cell-free tumor DNA analysis in advanced or metastatic breast cancer patients: mutation frequencies, testing intention and clinical impact

Precision Clinical Medicine, Journal Year: 2024, Volume and Issue: 8(1)

Published: Dec. 24, 2024

Abstract Background Circulating cell-free tumor DNA (ctDNA) provides a non-invasive approach for assessing somatic alterations. The German PRAEGNANT registry study aims to explore molecular biomarkers and investigate their integration into clinical practice. In this context, ctDNA testing was included understand the motivations of clinicians initiate testing, identify alterations, assess impact results obtained. Methods Patients with advanced/metastatic breast cancer were prospectively enrolled in Prospective Academic Translational Research Network Optimization Oncological Health Care Quality Adjuvant Advanced/Metastatic Setting (PRAEGNANT study; NCT02338167). FDA-approved CE-marked GUARDANT360 CDx test used A ctDNA-analysis report provided treating physician along questionnaire about intent implications results. Results from 49 patients analyzed prospectively: 37 (76%) had at least one alteration geneset; 14 (29%) harbored alterations TP53, 12 (24%) PIK3CA, 6 (12%) ESR1. Somatic mutations BRCA1 or BRCA2 detected 3 (6%) 4 (8%) patients, respectively, 59% hormone receptor-positive, human epidermal growth factor receptor 2-negative cancer. Questionnaires regarding intentions completed 48 (98%) patients. These showed that influenced treatment decisions 35% Discussion high prevalence ESR1, BRCA1/2 genes, identified by genotyping, highlights potential as targeted therapies. Detection specific affected decisions, such eligibility alpelisib, might further facilitate e.g. elacestrant capiversatib future lines.

Language: Английский

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