Utility of urinary ctDNA to monitoring minimal residual disease in early breast cancer patients

Guan, Gege; Wang, Yuehua; Sun, Qi; Xie, Fei; Yan, Jiayin; Huang, Huajun; Liu, Huijie

doi:10.3233/cbm-190523

Cited by 9 publications

(9 citation statements)

References 21 publications

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“…Recently, a study by Guan et al described the utility of urinary ctDNA to monitor recurrence in 300 patients with early breast cancer using serial sampling before treatment and at various time points during follow up [ 45 ]. They found detectable mutations in 38% of the patients and the agreement with matched tissue samples was 97%, which was congruent with results by Zuo et al, who reported a 97% agreement of PIK3CA mutation profiling in plasma and urinary ctDNA compared with respective tissue samples [ 41 ].…”

Section: Discussionmentioning

confidence: 99%

Targeted Sequencing of Plasma-Derived vs. Urinary cfDNA from Patients with Triple-Negative Breast Cancer

Herzog

Dogan

Aktas

et al. 2022

Cancers

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In breast cancer, the genetic profiling of circulating cell-free DNA (cfDNA) from blood plasma was shown to have good potential for clinical use. In contrast, only a few studies were performed investigating urinary cfDNA. In this pilot study, we analyzed plasma-derived and matching urinary cfDNA samples obtained from 15 presurgical triple-negative breast cancer patients. We used a targeted next-generation sequencing approach to identify and compare genetic alterations in both body fluids. The cfDNA concentration was higher in urine compared to plasma, but there was no significant correlation between matched samples. Bioinformatical analysis revealed a total of 3339 somatic breast-cancer-related variants (VAF ≥ 3%), whereof 1222 vs. 2117 variants were found in plasma-derived vs. urinary cfDNA, respectively. Further, 431 shared variants were found in both body fluids. Throughout the cohort, the recovery rate of plasma-derived mutations in matching urinary cfDNA was 47% and even 63% for pathogenic variants only. The most frequently occurring pathogenic and likely pathogenic mutated genes were NF1, CHEK2, KMT2C and PTEN in both body fluids. Notably, a pathogenic CHEK2 (T519M) variant was found in all 30 samples. Taken together, our results indicated that body fluids appear to be valuable sources bearing complementary information regarding the genetic tumor profile.

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Section: Discussionmentioning

confidence: 99%

Targeted Sequencing of Plasma-Derived vs. Urinary cfDNA from Patients with Triple-Negative Breast Cancer

Herzog

Dogan

Aktas

et al. 2022

Cancers

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“…The TR-ctDNA research field has continued to expand to encompass other types of cancer, including the demonstration of TR-ctDNA detection in patients with breast cancer ( Liu and Liu 2018 ; Guan et al 2020 ; J. Zhang, Zhang, and Shen 2020 ; Zuo et al 2020 ), liver cancer ( Hann et al 2017 ), pancreatic cancer ( Terasawa et al 2019 ) and gastric cancer ( Shi et al 2017 ).…”

Section: Trans-renal Cell-free Dna In Oncologymentioning

confidence: 99%

Trans-Renal Cell-Free Tumor DNA for Urine-Based Liquid Biopsy of Cancer

et al. 2022

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Cancer biomarkers are a promising tool for cancer detection, personalization of therapy, and monitoring of treatment response or recurrence. “Liquid biopsy” commonly refers to minimally invasive or non-invasive sampling of a bodily fluid (i.e., blood, urine, saliva) for detection of cancer biomarkers such as circulating tumor cells or cell-free tumor DNA (ctDNA). These methods offer a means to collect frequent tumor assessments without needing surgical biopsies. Despite much progress with blood-based liquid biopsy approaches, there are limitations—including the limited amount of blood that can be drawn from a person and challenges with collecting blood samples at frequent intervals to capture ctDNA biomarker kinetics. These limitations are important because ctDNA is present at extremely low levels in plasma and there is evidence that measuring ctDNA biomarker kinetics over time can be useful for clinical prediction. Additionally, blood-based assays require access to trained phlebotomists and often a trip to a healthcare facility. In contrast, urine is a body fluid that can be self-collected from a patient’s home, at frequent intervals, and mailed to a laboratory for analysis. Multiple reports indicate that fragments of ctDNA pass from the bloodstream through the kidney’s glomerular filtration system into the urine, where they are known as trans-renal ctDNA (TR-ctDNA). Accumulating studies indicate that the limitations of blood based ctDNA approaches for cancer can be overcome by measuring TR-ctDNA. Here, we review current knowledge about TR-ctDNA in urine as a cancer biomarker approach, and discuss its clinical potential and open questions in this research field.

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“…For example, homologous recombination is necessary for repairing DNA double-strand breaks. Some genes have already been described in the literature, such as BRCA1/2, which encodes proteins necessary for homologous recombination repairing [13].…”

Section: Dna Mutationmentioning

confidence: 99%

“…Studies have attempted to identify molecular biomarkers that could monitor patients with early pCR and avoid overtreatment in this population. However, these markers require larger studies with long-term follow-up, and for this reason, they currently lack clinical validation [12,13].…”

Section: Introductionmentioning

confidence: 99%

Molecular Biomarkers Predict Pathological Complete Response of Neoadjuvant Chemotherapy in Breast Cancer Patients: Review

Freitas

Causin

Varuzza

et al. 2021

Cancers

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Neoadjuvant chemotherapy (NAC) is often used to treat locally advanced disease for tumor downstaging, thus improving the chances of breast-conserving surgery. From the NAC response, it is possible to obtain prognostic information as patients may reach a pathological complete response (pCR). Those who do might have significant advantages in terms of survival rates. Breast cancer (BC) is a heterogeneous disease that requires personalized treatment strategies. The development of targeted therapies depends on identifying biomarkers that can be used to assess treatment efficacy as well as the discovery of new and more accurate therapeutic agents. With the development of new “OMICS” technologies, i.e., genomics, transcriptomics, and proteomics, among others, the discovery of new biomarkers is increasingly being used in the context of clinical practice, bringing us closer to personalized management of BC treatment. The aim of this review is to compile the main biomarkers that predict pCR in BC after NAC.

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Utility of urinary ctDNA to monitoring minimal residual disease in early breast cancer patients

Cited by 9 publications

References 21 publications

Targeted Sequencing of Plasma-Derived vs. Urinary cfDNA from Patients with Triple-Negative Breast Cancer

Targeted Sequencing of Plasma-Derived vs. Urinary cfDNA from Patients with Triple-Negative Breast Cancer

Trans-Renal Cell-Free Tumor DNA for Urine-Based Liquid Biopsy of Cancer

Molecular Biomarkers Predict Pathological Complete Response of Neoadjuvant Chemotherapy in Breast Cancer Patients: Review

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