Epi proColon®: Use of a Non-Invasive SEPT9 Gene Methylation Blood Test for Colorectal Cancer Screening: A National Laboratory Experience

Cai, Li; Hood, Scott; Kallam, Eddie; Overman, Danny; Barker, Kaitlyn; Rutledge, Dylan; Riojas, Jordan; Best, Carissa; Eisenberg, Marcia; Kam-Morgan, Lauren

doi:10.21767/2472-1158.100092

Cited by 7 publications

(5 citation statements)

References 20 publications

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“…Liquid biopsy markers such as cfDNA mutations, cfDNA methylation, and CTCs are already successfully applied as prognostic and predictive tools for treatment response in several tumor types and monitoring tools for disease progression [ 42 , 43 , 44 , 45 ], as well as for disease screening [ 5 ]. Yet, there are still no clinically approved tests for a broader cancer screening of the population.…”

Section: Discussionmentioning

confidence: 99%

“…Such minimally invasive blood-based tests could be useful for screening asymptomatic patients and high-risk populations. Liquid biopsy-based tests have been not only successfully applied in disease screening [ 5 ] but tend to have even higher compliance in comparison to other standard procedures such as FIT (fecal immunochemical test) [ 6 ].…”

Section: Introductionmentioning

confidence: 99%

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Comprehensive Approach to Distinguish Patients with Solid Tumors from Healthy Controls by Combining Androgen Receptor Mutation p.H875Y with Cell-Free DNA Methylation and Circulating miRNAs

Tomeva¹,

Switzeny²,

Heitzinger

et al. 2022

Cancers

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Liquid biopsy-based tests emerge progressively as an important tool for cancer diagnostics and management. Currently, researchers focus on a single biomarker type and one tumor entity. This study aimed to create a multi-analyte liquid biopsy test for the simultaneous detection of several solid cancers. For this purpose, we analyzed cell-free DNA (cfDNA) mutations and methylation, as well as circulating miRNAs (miRNAs) in plasma samples from 97 patients with cancer (20 bladder, 9 brain, 30 breast, 28 colorectal, 29 lung, 19 ovarian, 12 pancreas, 27 prostate, 23 stomach) and 15 healthy controls via real-time qPCR. Androgen receptor p.H875Y mutation (AR) was detected for the first time in bladder, lung, stomach, ovarian, brain, and pancreas cancer, all together in 51.3% of all cancer samples and in none of the healthy controls. A discriminant function model, comprising cfDNA mutations (COSM10758, COSM18561), cfDNA methylation markers (MLH1, MDR1, GATA5, SFN) and miRNAs (miR-17-5p, miR-20a-5p, miR-21-5p, miR-26a-5p, miR-27a-3p, miR-29c-3p, miR-92a-3p, miR-101-3p, miR-133a-3p, miR-148b-3p, miR-155-5p, miR-195-5p) could further classify healthy and tumor samples with 95.4% accuracy, 97.9% sensitivity, 80% specificity. This multi-analyte liquid biopsy-based test may help improve the simultaneous detection of several cancer types and underlines the importance of combining genetic and epigenetic biomarkers.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Comprehensive Approach to Distinguish Patients with Solid Tumors from Healthy Controls by Combining Androgen Receptor Mutation p.H875Y with Cell-Free DNA Methylation and Circulating miRNAs

Tomeva¹,

Switzeny²,

Heitzinger

et al. 2022

Cancers

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show abstract

“…Meta-analysis of existing clinical data showed that the assay's sensitivity and specificity were 71 and 92%, respectively, demonstrating its reliability for CRC detection ( 59 , 60 ). In 2016, a blood test that detects circulating methylated Septin 9 DNA was approved by the FDA to provide an alternative screening modality ( 61 ), thus paving the way for the development of a new generation of liquid biopsy tests for early cancer detection.…”

Section: Measurement Of Cfdna Methylationmentioning

confidence: 99%

Cell‑free DNA as a liquid biopsy for early detection of gastric cancer (Review)

Huang¹,

Zhang

et al. 2020

Oncol Lett

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Gastric cancer (GC) is one of the most common malignant tumors with poor prognosis worldwide, mainly due to the lack of suitable modalities for population-based screening and early detection of this disease. Therefore, novel and less invasive tests with improved clinical utility are urgently required. The remarkable advances in genomics and proteomics, along with emerging new technologies for highly sensitive detection of genetic alterations, have shown the potential to map the genomic makeup of a tumor in liquid biopsies, in order to assist with early detection and clinical management. The present review summarize the current status in the identification and development of cell-free DNA (cfDNA)-based biomarkers in GC, and also discusses their potential utility and the technical challenges in developing practical cfDNA-based liquid biopsy for early detection of GC.

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“…Tumorspezifische DNA-Methylierungsmuster entstehen relativ früh in der Tumorgenese und betreffen die Mehrzahl der Tumoren. Der einzige bislang von der FDA zertifizierte und auch CE-markierte ctDNA-Methylierungstest für das KRK-Screening, der Epi proColon test, basiert auf dem Nachweis der Hypermethylierung des Promotors des Gens für Septin-9 [32]. Abnormale oder fehlende Expression des SEP9-Gens hat kritische Auswirkungen auf die Zytokinese, ein Hauptmerkmal in der Karzinogenese des KRK.…”

Section: Dna-methylierungsmuster Und Micrornasunclassified

Labordiagnostik bei gastrointestinalen Tumoren

Kleber¹

2020

Onkologische Welt

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ZUSAMMENFASSUNGDas kolorektale Karzinom (KRK) ist einer der häufigsten malignen Tumoren in Deutschland. Einer frühzeitigen Diagnostik kommt große Bedeutung zu. Goldstandard ist hier die Koloskopie. Die aktuelle S3-Leitlinie Kolorektales Karzinom empfiehlt zum KRK-Screening den fäkalen okkulten Bluttest. Für das Monitoring von Patienten vor und nach Tumorresektion werden die Messung des Carcinoembryonalen Antigens (CEA) und der Mikrosatellitenstabilität empfohlen. Für die Auswahl der korrekten Chemotherapie scheint derzeit eine Überprüfung des Mutationsstatus, mindestens des KRAS-Gens und des BRAF-Gens, sinnvoll zu sein. Eine Reihe an neuartigen Tumormarkern befindet sich momentan in der Entwicklung, hat jedoch noch nicht die Reife für eine mögliche Anwendung in der Routinediagnostik erreicht. Den schnellsten Weg in die breite Anwendung können Next-Generation-Sequencing-basierte genetische Tests finden.

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Epi proColon®: Use of a Non-Invasive SEPT9 Gene Methylation Blood Test for Colorectal Cancer Screening: A National Laboratory Experience

Cited by 7 publications

References 20 publications

Comprehensive Approach to Distinguish Patients with Solid Tumors from Healthy Controls by Combining Androgen Receptor Mutation p.H875Y with Cell-Free DNA Methylation and Circulating miRNAs

Comprehensive Approach to Distinguish Patients with Solid Tumors from Healthy Controls by Combining Androgen Receptor Mutation p.H875Y with Cell-Free DNA Methylation and Circulating miRNAs

Cell‑free DNA as a liquid biopsy for early detection of gastric cancer (Review)

Labordiagnostik bei gastrointestinalen Tumoren

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