Colorectal cancer (CRC) remains one of the most frequent cancers and a leading contributor to cancer-associated mortality globally. CRCs are often diagnosed at an advanced stage, which leads to high mortality and morbidity. This outcome is exacerbated by high rates of recurrence and postoperative complications that contribute substantially to poor prognosis. Advancements in endoscopic assessment have improved CRC prevention, early detection, and surveillance over the years. Yet, CRC remains one of the most significant health challenges of the 21st century. Label-free optical spectroscopy methods have long been explored as potential partners to endoscopy, not only to enhance diagnostic accuracy but also to confer predictive capabilities to endoscopic evaluations. We investigated the potential of time-resolved autofluorescence measurements excited at 375 and 445nm to correctly classify benign and malignant tissues in CRC surgical specimens from 117 patients. Multiparametric autofluorescence lifetime data were collected in two distinct datasets, which were used for training ( ) and testing ( ) a supervised ensemble learning classification model, with standard histopathology assessment serving as ground truth. Using 5-fold cross-validation, we achieved sensitivity, specificity, accuracy, and area under the curve (AUC) for training data. Evaluation of unseen test data yielded similar results, with 85.2% sensitivity, 84.5% specificity, 84.8% accuracy, and 0.915 AUC. Although preliminary, our findings underscore the potential impact of AI-assisted autofluorescence lifetime measurements in advancing CRC prevention, early detection, and surveillance efforts.
9Challenges With Colorectal Cancer Family History Assessment—Motivation to Translate Polygenic Risk Scores Into Practice
Challenges With Colorectal Cancer Family History Assessment—Motivation to Translate Polygenic Risk Scores Into Practice
14Upregulated Linc01836 in Serum Promisingly Serving as a Diagnostic and Prognostic Biomarker for Colorectal Cancer
Objectives: Colorectal cancer (CRC) is a common carcinoma of the gastrointestinal tract with high incidence and mortality worldwide. Studies have shown that long noncoding RNAs (lncRNAs) play important roles in CRC. Our purpose is to investigate the potential of serum Linc01836 as a diagnostic and prognostic marker in CRC.Methods: We evaluated the expression of Linc01836 via quantitative real-time polymerase chain reaction (qRT-PCR). The serum CEA, CA19-9, Cyfra21-1, and CA72-4 concentrations were measured by Architect I4000 SR. Receiver operating characteristic (ROC) curves were plotted to estimate the diagnostic value in CRC. Relationship between serum Linc01836 expression and clinicopathological characteristics of CRC cases was analyzed via chi-square test. The underlying mechanism of Linc01836 on the development and prognosis in CRC was predicted by bioinformatic analysis.Results: The method of qRT-PCR for Linc01836 detection was confirmed with high precision and specificity. Serum Linc01836 expression in CRC patients was significantly higher than that in healthy donors (p < 0.0001) and benign patients (p < 0.0001), and declined after resection (p < 0.01). High expression of Linc01836 was associated with histological stage (p = 0.002) and lymph node metastasis (p = 0.006). In addition, serum Linc01836 could effectively differentiate CRC patients from the healthy folks, with favorable area under the curve (AUC) of 0.809 (95% CI: 0.757–0.861, p < 0.001). What is more, the combination of serum Linc01836, CEA, and Cyfra21-1 could improve diagnostic sensitivity (92.0%). Linc01836 was averagely located in the nucleus and cytoplasm, suggesting that it might participate in CRC progression and prognosis through the crosstalk among lncRNAs, miRNAs, and mRNAs.Conclusion: Linc01836 may serve as a valuable noninvasive biomarker for population screening, early detection, and clinical surveillance of CRC.
Read moreAbstract B46: FIT FOR LIFE: Increasing prevention and early detection of colorectal cancer for the medically disenfranchised
Background: Racial/ethnic minorities, low-income individuals and recent immigrants shoulder a disproportionate burden of colorectal cancer (CRC) mortality. In Florida, Blacks and Hispanics remain at an increased risk of colorectal cancer (CRC) compared to non-Hispanic Whites (NHW). In the Miami metropolitan area, this disparity is most prominent within the ethnic enclaves of Little Haiti and Hialeah, comprised predominately of Haitian and Hispanic Americans, respectively These communities experience an increased rate of late-stage CRC diagnosis relative to the state as a whole, largely due to lack of access to, and utilization of, CRC screening. Fecal immunochemical testing (FIT) has proved successful in addressing screening barriers for other medically-underserved communities. The present study represents a novel method for FIT delivery and uptake, particularly for the medically disenfranchished. Community Health Workers (CHWs), indigenous to Little Haiti and Hialeah, identified unscreened individuals, educated them about how to appropriately use FIT, and then provided them a postage-paid envelope to return completed tests to a laboratory for processing. Here we report preliminary acceptability and feasibility data for this approach. Methods: The FIT for Life screening program was available to all persons residing in Little Haiti and Hialeah 50 and 75 years old, who were unscreened or underscreened according to US Preventive Task Force recommendations, and considered average risk for CRC based on a brief screener. Our team worked closely with community partners to identify the CHWs, who ultimately were responsible for participant recruitment and intervention delivery. Following FIT return, a research assistant contacted participants to ask a series of questions in their language of preference about their perceived acceptability of FIT as a modality for CRC prevention. Any participant, identified as FIT positive was navigated to timely colonoscopy Results: To date, 221 participants (112 Hispanic, 109 Haitian) have been consented, received education on CRC screening, and were given the FIT kits. 92 Hispanics (82.1%) and 97 Haitians (88.9%) returned the FIT kits for processing. The test positive rate was 2.2% for Hispanics and 3.1% for Haitians. The mean quantity of blood in stool for positive tests was 896 ng/mL for Hispanics and 950 ng/mL for Haitians. The mean quantity of blood in stool for negative tests was 5.2 ng/mL for Hispanics and 4.8 ng/mL for Haitians. On follow-up clinical care, one Haitian participant was found to have an advanced stage CRC and a second did not want to undergo colonoscopy. Based on acceptability surveys, 100% of Hispanics and 90% of Haitians responded that they would use FIT again if offered for further screening; the same proportions would recommend the FIT with CHW method to friends and family members. Interestingly, 90.2% of Hispanics and only 5.0% of Haitians felt confident that FIT works as well as a CRC screening test that would be administered by a physician or nurse. Conclusion: The pairing of CHWs with CRC screening by FIT appears to be an effective approach to disease prevention that is highly acceptable to study participants. Further examination of whether this method is needed. We have begun collaborating with Federally Qualified Health Centers (FQHC) in Little Haiti and Hialeah to explore the sustainability of this approach and to ensure that participants are linked to a medical home for ongoing cancer prevention. Citation Format: Daniel Sussman, Monica Oriol, Martha Gonzalez, Heisy Asusta, Jose Ruiz, Dinah Trevil, Dorothy Parker, Erin Kobetz. FIT FOR LIFE: Increasing prevention and early detection of colorectal cancer for the medically disenfranchised. [abstract]. In: Proceedings of the Sixth AACR Conference: The Science of Cancer Health Disparities; Dec 6–9, 2013; Atlanta, GA. Philadelphia (PA): AACR; Cancer Epidemiol Biomarkers Prev 2014;23(11 Suppl):Abstract nr B46. doi:10.1158/1538-7755.DISP13-B46
Read moreA novel active chromatin cell-free DNA (cfDNAac) assay for early detection of colorectal cancer.
3605 Background: Colorectal cancer (CRC) is the third most common cancer and the second leading cause of cancer-related deaths globally (Xi et al. 2021). In the U.S., it is estimated that 152,810 new cases and 53,010 deaths will occur in 2024, with an increasing incidence among younger adults (ACS, 2024). CRC is a multifactorial disease influenced by both genetic and environmental factors and typically progresses from normal epithelial tissue to adenocarcinoma through a well-established sequence of molecular events. Despite advancements in treatment, early detection remains a key driver of improved survival outcomes. While current screening methods— such as fecal immunochemical testing, fecal DNA testing, and colonoscopy— have reduced CRC mortality and morbidity, low compliance continues to be a significant challenge. In this study, we developed a proof-of-concept machine learning (ML) classifier leveraging active chromatin cell-free DNA (cfDNA ac ) signals in peripheral blood to differentiate CRC patients from healthy individuals. Methods: Plasma samples from treatment-naive colorectal cancer (CRC) patients (stages I–IV, n = 54), advanced adenoma patients (n = 14), and healthy volunteers (n = 40) were processed using Aqtual’s proprietary active chromatin capture workflow to enrich regulatory-active chromatin cfDNA. Samples were split into a training set, which included 31 early-stage CRC samples (stage I: n = 13, stage II: n = 13, stage III: n = 5) and 19 healthy samples, and a hold-out set, comprised 37 disease samples (stage I/II: n = 6, stage III: n = 6, stage IV: n = 11, advanced adenoma: n = 14) and 21 healthy samples. A machine learning classifier was trained using 5-fold cross-validation with 5 repeats on the training set, and the performance was assessed on the hold-out set to ensure robustness and generalizability. Results: A machine learning classifier trained on genome-wide cfDNA ac signals demonstrated robust performance, achieving a mean AUC of 0.94 (95% CI: 0.92 - 0.96). It exhibited 93% sensitivity (95% CI: 84% -100%) for colorectal cancer detection (Stage I/II: 94%, Stage III: 95%, Stage IV: 91%) and 81% sensitivity (95% CI: 67% - 95%) for advanced adenoma, with a specificity of 90% in the hold-out set. Analysis of the top contributing cfDNA ac signals identified 852 promoter and 2,594 exon features derived from 2,678 unique genes. Gene-set enrichment analysis revealed significant associations with key cancer hallmarks, including KRAS signaling and epithelial-mesenchymal transition (EMT). Conclusions: This study highlights the potential of Aqtual’s active chromatin capture assay to identify molecular features in plasma that differentiate CRC and advanced adenoma from healthy individuals. The ML classifier based on these signatures shows promise for future development as a non-invasive tool for early colorectal cancer and advanced adenoma detection and monitoring.
Read moreEditorial: Key proteins of tumor angiogenesis: potential therapeutic targets for gastrointestinal tumors.
Tumor angiogenesis is a key process in tumor growth and metastasis, involving the formation of new blood vessels to supply the tumor with necessary oxygen and nutrients (1,2). This process is particularly important in gastrointestinal tumors, as it promotes tumor growth and increases the likelihood of tumor metastasis through the circulatory system (3,4). In recent years, with in-depth research into the tumor angiogenesis process, some key proteins have been found to play crucial roles (5). These proteins have become potential targets for gastrointestinal tumor therapy, offering possibilities for the development of new treatment methods (6,7). However, despite the hope these therapeutic targets bring, many challenges remain in their clinical application (8). Therefore, accurately analyzing the mechanisms of gastrointestinal tumor development, developing and identifying new tumor therapeutic targets, and targeting either the tumor itself or its angiogenesis, while minimizing the impact on normal tissues, are the key research directions of focus in this topic.Víctor Urbiola-Salvador and colleagues, investigates the changes in plasma protein levels in colorectal cancer (CRC) patients, aiming to identify potential non-invasive biomarkers for early detection and prognosis. They focuses on colorectal cancer (CRC), exploring diagnostic tools, the significance of early detection, and the identification of potential blood-based biomarkers for CRC screening (9). Their research highlights the limitations of current screening methods and the promise of new biomarkers and technologies, such as the Proximity Extension Assay, for improving early detection and monitoring of CRC. Utilizing a proximity extension assay, the research quantified 690 proteins from plasma samples, finding 202 proteins significantly altered in CRC patients compared to healthy controls. Key findings include the identification of proteins related to Th17 activity, oncogenic pathways, and cancer-related inflammation, which could aid in CRC diagnosis. Specifically, proteins such as IFNG, IL32, and IL17C were associated with early CRC stages, while ACP6, FLT4, and MANSC1 correlated with advanced stages. Fatemi et al.'s study, employing systematic review and meta-analysis methods, explored the association between polymorphisms in IGF1 pathway genes (IGF1, IGF1R, IRS1, and IRS2) and the risk of colorectal cancer (CRC) (10). The study encompassed 26 research articles that met inclusion criteria, including 22,084 cases and 29,212 controls, aiming to fill the gap in the integration of genetic data related to the IGF pathway from previous studies. The IGF pathway plays a crucial role in the development and progression of CRC, and genetic variations may contribute to CRC risk. The scientific value of this study lies in its systematic analysis of multiple genetic variations in four genes within the IGF1 pathway, providing insights into the complex genetic mechanisms of CRC and valuable information for future research on CRC prevention and treatment. Moreover, considering the etiology of gastrointestinal tumors is closely related to the interaction between genetic and environmental factors, this study holds significant scientific value and clinical significance for revealing the link between specific genetic polymorphisms and CRC risk, thereby providing a theoretical basis for the early diagnosis and personalized treatment of gastrointestinal tumors.Wang's article primarily investigated the association between serum gamma-glutamyl transferase (GGT) levels and high-grade colorectal adenomas (11). Through a retrospective study of 3,534 hospitalized patients, it was found that for every 20-unit increase in GGT levels, the risk of high-grade colorectal adenomas increased by 6%.Notably, individuals with GGT levels higher than 50 U/L had a 61% higher risk of highgrade colorectal adenomas compared to those with GGT levels below 50 U/L. This finding offers a new perspective for the early diagnosis of high-grade colorectal adenomas, potentially improving current screening strategies. The increase in GGT activity, an enzyme, may be related to tumor growth and development, especially in the colorectal adenoma-carcinoma sequence. Furthermore, the increase in GGT activity might promote tumor cells' resistance to chemotherapy drugs. The scientific value of this article lies in revealing the association between GGT and high-grade colorectal adenomas and in emphasizing the value of GGT as a potential diagnostic marker, providing new strategies for the early diagnosis and prevention of colorectal cancer.Additionally, this study opens new research directions for future studies on the diagnostic performance of GGT at different CRC stages, including high-grade colorectal adenoma stages.Lin's work primarily investigated the role of the zinc transport pathway in colorectal cancer (CRC), particularly in colon adenocarcinoma (COAD), and its application in the construction of prognostic models (12). The zinc transport pathway plays a key role in In conclusion, by studying angiogenesis and its regulatory mechanisms in gastrointestinal tumors, we can better understand the complexity of tumor development and develop more effective diagnostic, therapeutic, and preventive strategies, thereby improving patients' survival rates and quality of life. Future research should continue to explore these potential biomarkers and therapeutic targets to promote innovation and improvement in gastrointestinal tumor management strategies.
Read moreA multi-center study for colorectal cancer early detection among patients with high-risk disease using a cell-free fragmentomics assay.
3613 Background: Colorectal cancer (CRC) is the third most prevalent and the second deadliest cancer globally, accounting for an estimated 1,926,000 new cases and 903,800 deaths in the year 2022 alone. It's also established that chronic inflammatory conditions, such as Crohn's disease and ulcerative colitis, elevate the risk of developing CRC. Therefore, a timely CRC diagnosis for patients with colorectal disease can significantly improve their prognosis and therefore reduce cancer-related mortalities. Methods: In this study, we enrolled a total of 167 patients diagnosed with CRC (stages I: 43, II: 55, III: 56, IV: 13) and 217 patients with benign colorectal disease (BCD), from five participating hospitals. All participants underwent colonoscopy procedures, and their CRC or BCD status was pathologically confirmed. The development of the cancer detection model was based on a training cohort of 98 CRC patients and 131 BCD patients from three hospitals, and the evaluation of the model's performance was carried out on an independent test cohort comprising 69 CRC patients and 96 BCD patients from the remaining two hospitals. The predictive model leveraged cell-free fragmentomics profiling, employing low-pass whole-genome sequencing (WGS) on pre-operative plasma samples to identify CRC. Results: The early detection model exhibited remarkable efficacy in differentiating CRC patients from those with BCD, achieving an Area Under the Curve (AUC) of 0.930 in the training cohort and a nearly equivalent AUC of 0.926 in the independent test cohort. By applying the same cutoff determined in the training cohort, our model demonstrated a high sensitivity (91.8% in the training cohort and 91.3% in the test cohort) and a satisfactory specificity (78.6% in the training cohort and 82.3% in the test cohort). Notably, the model showed consistent and robust performance across various CRC characteristics, including tumor location, histology subtypes, grades, and mismatch repair deficiency status in both cohorts. Moreover, our model outperformed traditional CRC screening methods such as the fecal immunochemical test, carcinoembryonic antigen (CEA), and CA19-9, which achieved AUCs of 0.742, 0.720, and 0.543, respectively. Further validation was conducted using an additional cohort of 31 patients with advanced colorectal adenoma (advCRA), where the model achieved an AUC of 0.846 and a 66.7% sensitivity for distinguishing advCRA from BCD. Conclusions: The study introduces a non-invasive, cell-free fragmentomics assay that incorporates low-pass WGS and machine learning algorithms, demonstrating significant clinical potential in accurately distinguishing CRC and BCD patients. Our innovative approach offers a promising alternative to traditional screening methods that can improve early CRC detection, enhance CRC patient outcomes, and reduce mortality rates.
Read moreWays to improve the diagnosis and treatment of early colorectal cancer: a literature review and a clinical case study
The development of effective, highly sensitive and highly specific approaches to early detection of colorectal cancer is the basis for the timely use of various targeted interventions that can effectively solve patients’ problems, minimizing the impact on their quality of life. Endoscopic diagnostic and therapeutic techniques continue to play a critical role in improving cancer outcomes and are continually being reviewed and improved to increase detection rates of colorectal cancer.The aim of the study was to analyze and summarize the current scientific literature describing promising developments in early diagnosis and treatment of colorectal cancer, as well as to describe a case report demonstrating the importance of high-quality diagnostics for selecting a therapeutic strategy for colorectal cancer.Material and Methods. The literature search was conducted in Pubmed, Google Scholar, and Elibrary.ru databases, focusing on articles published between 2016 and 2025, using the key words “colorectal cancer”, “colorectal cancer”, “CT-colonography”, “colonoscopy”. Priority was given to the studies describing the improvement of screening tools for detecting colorectal neoplasia. Of the 100 publications, 41 were selected for this review.Results. Precise optical diagnosis of colorectal polyps, including the ability to predict polyp histology in real time during colonoscopy, appears to be the most promising approach for detecting even small colorectal lesions. This approach can potentially allow for the abandonment of forceps biopsy reducing the incidence of misdiagnosis (as demonstrated in the described case report).Conclusion. To develop strategies for improving early detection and treatment of colorectal cancer, it is necessary to take into account the fact that the human, diagnostic and therapeutic potential in different regions of Russia varies significantly. Researchers should prioritize developing their own diagnostic experience, removing economic barriers to effective colorectal cancer detection, and developing rational ways to improve therapeutic approaches within regional health care settings.
Read more4A multi-gene blood-based methylation assay for early diagnosis of colorectal cancer.
Early detection for colorectal cancer (CRC) can enhance the patient prognosis. We aimed to validate the combined multi-gene detection in plasma of Septin9, SDC2, KCNQ5, and IKZF1 for early diagnosing of CRC in this prospective study. Overall, 124 participants including 45 CRC patients, 8 advanced adenoma patients, 34 small polyp patients, and 37 normal controls who underwent colonoscopy were enrolled. The carcinoembryonic antigen (CEA) test and methylation tests for Septin9, SDC2, KCNQ5, and IKZF1 were performed. Sensitivity, specificity, and the area under the curve (AUC) of the receiver operating characteristic (ROC) curve were utilized to evaluate the diagnostic value of each biomarker. Additionally, the association between the positive rates of methylated Septin9, SDC2, KCNQ5, and IKZF1 and the clinicopathological characteristics of CRC was also analyzed. The positive detection rate of multi-gene methylation in CRC patients was 86.67%, for stage I and stage II patients, the positive rates were 90.91% and 87.50%, both of which were significantly higher than CEA, which had rates of 55.56%, 18.18% and 56.25% for the corresponding stages. In patients with advanced adenomas and small polyps, the positive rates for the four-gene combined test were 62.50% and 52.94%, respectively, which were markedly higher than the CEA rates of 12.50% and 14.71%. AUC of the ROC curve indicated that the diagnostic value of the multi-gene test for CRC was superior to that of any single gene. Correlation analysis revealed that the positive rate of the test was not affected by patients' clinicopathological characteristics. A combination of methylated Septin9, SDC2, KCNQ5, and IKZF1 test has the potential for early diagnosis of CRC patients, advanced adenoma patients, and small polyp patients.
Read more48Molecular biomarkers of colorectal carcinogenesis and their role in surveillance and early intervention
Molecular biomarkers of colorectal carcinogenesis and their role in surveillance and early intervention
P-0151 Colorectal Cancer Screening – Results of Colonoscopy in the Osijek-Baranja County, Croatia
P-0151 Colorectal Cancer Screening – Results of Colonoscopy in the Osijek-Baranja County, Croatia
Management of colorectal cancer screening backlog due to the COVID-19 pandemic: A retrospective analysis of the use of a colorectal cancer screening clinical-decision support tool in Argentina
Management of colorectal cancer screening backlog due to the COVID-19 pandemic: A retrospective analysis of the use of a colorectal cancer screening clinical-decision support tool in Argentina
Read moreEarly cancer detection through symptoms and signs
<p dir="ltr">Early cancer detection is critical for improving survival rates, yet it requires a careful balance between minimising missed diagnoses and avoiding over- investigation. Primary care plays a central role in this process. This thesis aims to enhance understanding of the complexities involved in early cancer detection by analysing symptoms and signs, with the goal of contributing to the development of risk assessment and prediction tools to identify cancer at an early stage within primary care.</p><p dir="ltr">This thesis is based on five quantitative studies conducted within the Swedish healthcare system. Study I examined symptoms reported by referred patients via questionnaires at the Department of Pulmonary Medicine at Karolinska University Hospital. It investigated whether machine learning could predict which patients subsequently received a lung cancer diagnosis, stratified by smoking status. Studies II and III focused on comprehensive diagnostic data and coded symptoms from primary care to facilitate early detection of non-metastatic colorectal cancer, with Study II conducted in Region Stockholm and Study III in Region Västra Götaland. Studies IV and V used comprehensive clinical and laboratory data from the entire adult population of Stockholm County. Study IV presents a cohort description, while Study V examines the association and discriminatory capacity of newly developed anaemia as an indicator for cancer.</p><p dir="ltr">In Study I, the findings demonstrate that predictive models, using machine learning, exhibit good discriminatory ability for patients who either never smoked or were current smokers. In Study II, an existing Swedish risk assessment tool was validated by replicating it in a different region, with consistent results across regions. In Study III, a new predictive model was developed using machine learning to analyse all diagnostic data for identifying non-metastatic colorectal cancer. Study IV introduces the extensive STEADY-CAN (Stockholm early detection of cancer study) cohort, providing opportunities to analyse early cancer detection patterns. Study V investigates the association between newly developed anaemia and cancer risk within the STEADY-CAN cohort, revealing a significant impact on risk assessment.</p><p dir="ltr">These findings collectively address the value of improved risk stratification in primary care by leveraging existing data to better identify patients at elevated risk of having cancer. The results highlight key themes in early detection- predictive accuracy, risk stratification, clinical utility, and applicability across populations-and identify areas where current evidence has been limited or inconclusive. Future research should prioritise the validation of novel diagnostic approaches and the development of systems that support clinical decision- making, while upholding the principles of accessible, patient-centred care. Keywords: Early cancer detection, Primary care, Machine learning, Colorectal cancer, Lung cancer, Risk assessment tools, Anaemia, STEADY-CAN.</p><h3>List of scientific papers</h3><p dir="ltr">I. <b>Nemlander E</b>, Rosenblad A, Abedi E, Ekman S, Hasselström J, Eriksson LE, Carlsson AC. Lung cancer prediction using machine learning on data from a symptom e-questionnaire for never smokers, formers smokers and current smokers. PLoS One. 2022 Oct 21;17(10):e0276703. PMID: 36269746; PMCID: PMC9586380.</p><p dir="ltr">Erratum for: PLoS One. 2022 Oct 21;17(10):e0276703. PMID: 38060550; PMCID: PMC10703334. <a href="https://doi.org/10.1371/journal.pone.0276703">https://doi.org/10.1371/journal.pone.0276703</a></p><p dir="ltr">II. <b>Nemlander E</b>, Rosenblad A, Abedi E, Hasselström J, Sjövall A, Carlsson AC, Ewing M. Validation of a diagnostic prediction tool for colorectal cancer: a case-control replication study. Fam Pract. 2023 Jan 5:cmac147. PMID: 36611019. <a href="https://doi.org/10.1093/fampra/cmac147">https://doi.org/10.1093/fampra/cmac147</a><br><br>III. <b>Nemlander E</b>, Ewing M, Abedi E, Hasselström J, Sjövall A, Carlsson AC, Rosenblad A. A machine learning tool for identifying non- metastatic colorectal cancer in primary care. European Journal of Cancer. 2023 Jan 11. <a href="https://doi.org/10.1016/j.ejca.2023.01.011">https://doi.org/10.1016/j.ejca.2023.01.011</a><br><br>IV. <b>Nemlander E</b>, Abedi E, Ljungman P, Hasselström J, Carlsson AC, Rosenblad A. The Stockholm Early Detection of Cancer Study (STEADY-CAN): rationale, design, data collection, and baseline characteristics for 2.7 million participants. <a href="https://doi.org/10.1007/s10654-024-01192-8" rel="noreferrer" target="_blank">https://doi.org/10.1007/s10654-024-01192-8</a></p><p dir="ltr"><br>V. <b>Nemlander E</b>, Rosenblad A, Abedi E, Hasselström J, Ljungman P, Carlsson AC. Newly developed anaemia predicts incident cancer and death within 18 months: Findings from 1.1 million patients in the Stockholm Early Detection of Cancer Study (STEADY-CAN) cohort. [Manuscript]</p>
Read more25Urinary Cysteine-Rich Protein 61 and Trefoil Factor 3 as Diagnostic Biomarkers for Colorectal Cancer
Urinary Cysteine-Rich Protein 61 and Trefoil Factor 3 as Diagnostic Biomarkers for Colorectal Cancer
Abstract 6203: Evaluating cost-effectiveness and clinical utility of a blood-based colorectal cancer (CRC) early detection assay, ColonAiQ࣪, through a real-world study in average-risk population (PreC)
Background: Effective non-invasive colorectal cancer (CRC) screening assays, with high sensitivity and specificity, are desired to increase patient compliance, improve early detection, and reduce CRC mortality. Current stool-based tests suffer with the handling difficulties with specimen, while blood-based tests that rely on single gene methylation have limited sensitivity. We have developed a multi-locus blood-based assay targeting circulating tumor DNA methylation, ColonAiQ, which was demonstrated the ability of early detection for CRC and advanced adenoma (AA) [1]. Study Design: We further organized a real-world cohort aiming for recruiting 120,000 average-risk population to evaluate ColonAiQ’s cost-effectiveness and clinical utility over a 3-year period. This Prospective evaluation of ColonAiQ, PreC study, is organized in Yangzhou city in China being supported by the local government and hospitals. Results: From Jan. 2021 to Aug. 2021, 21,735 apparently healthy volunteers aging from 40 to 80 (median 61.8) were recruited with 10ml blood draw to process with ColonAiQ assay. One thousand six hundred and thirty (7.5%) were tested positive in ColonAiQ, among which 650 were further examined by colonoscopy followed by pathological diagnosis on the biopsy specimen. We successfully identified 330 patients with neoplasm, including 14 (4.3%) asymptomatic CRC, 99 (30%) AA, 184 (43.9%) multi-adenoma or non-advanced adenoma, 33 (10%) polyps, together with 19 patients with non-neoplastic GI disorders. The positive predictive value (PPV) is primarily estimated as 2.2% for CRC and 15.2% for AA (43.5% for adenoma), although these numbers can be largely influenced by the scale of the sample size. Among those 14 identified CRC cases, none of them were tested positive in fecal immunochemical test (FIT), the current screening method locally available. Conclusion: Results from this real-world analysis of ColonAiQ performance, although a preliminary subset, demonstrates the assay robustness, tester compliance, patient adherence to the test result, substantially maximizing its potential benefits for average-risk CRC screening. ColonAiQ significantly increases the detection rate for precancerous adenomas and early-stage CRC when compared to existing molecular screening tests, which could greatly improve preventative care and CRC patient survival. Citation Format: Yanbing Ding, Jun Liu, Yongsheng Li, Cuiping Wang, Huisong Luo, Yang Li, Tingdong Tang, Hui Wang, Wenjun Pan, Huimin Yang, Haipeng Jia, Yunzhi Zhang, Rui Liu. Evaluating cost-effectiveness and clinical utility of a blood-based colorectal cancer (CRC) early detection assay, ColonAiQ࣪, through a real-world study in average-risk population (PreC) [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2022; 2022 Apr 8-13. Philadelphia (PA): AACR; Cancer Res 2022;82(12_Suppl):Abstract nr 6203.
Read moreData from Proximal Fluid Proteome Profiling of Mouse Colon Tumors Reveals Biomarkers for Early Diagnosis of Human Colorectal Cancer
<div>Abstract<p><b>Purpose:</b> Early detection of colorectal cancer (CRC) and its precursor lesions is an effective approach to reduce CRC mortality rates. This study aimed to identify novel protein biomarkers for the early diagnosis of CRC.</p><p><b>Experimental Design:</b> Proximal fluids are a rich source of candidate biomarkers as they contain high concentrations of tissue-derived proteins. The Fabpl<i>Cre</i>;<i>Apc</i><sup>15lox/+</sup> mouse model represents early-stage development of human sporadic CRC. Proximal fluids were collected from normal colon and colon tumors and subjected to in-depth proteome profiling by tandem mass spectrometry. Carcinoembryonic antigen (CEA) and CHI3L1 human serum protein levels were determined by ELISA.</p><p><b>Results:</b> Of the 2,172 proteins identified, quantitative comparison revealed 192 proteins that were significantly (<i>P</i> < 0.05) and abundantly (>5-fold) more excreted by tumors than by controls. Further selection for biomarkers with highest specificity and sensitivity yielded 52 candidates, including S100A9, MCM4, and four other proteins that have been proposed as candidate biomarkers for human CRC screening or surveillance, supporting the validity of our approach. For CHI3L1, we verified that protein levels were significantly increased in sera from patients with adenomas and advanced adenomas compared with control individuals, in contrast to the CRC biomarker CEA.</p><p><b>Conclusion:</b> These data show that proximal fluid proteome profiling with a mouse tumor model is a powerful approach to identify candidate biomarkers for early diagnosis of human cancer, exemplified by increased CHI3L1 protein levels in sera from patients with CRC precursor lesions. <i>Clin Cancer Res; 18(9); 2613–24. ©2012 AACR.</i></p></div>
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