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| ID | Type | Description | Link |
|---|---|---|---|
| 14976 | Other Grant/Funding Number | KWF Kankerbestrijding |
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| Name | Class |
|---|---|
| Dutch Cancer Society | OTHER |
| Leiden University Medical Center | OTHER |
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The goal of this study is to develop a blood-test which can detect colorectal cancer in early stages.
Participants will be asked to take an extra blood test, which will be analyzed further in the lab.
Lynch Syndrome (LS) carriers have a predisposition to develop various types of cancer, especially colorectal cancer (CRC) and endometrial cancer (EC). LS patients are advised to undergo surveillance by colonoscopy every 2 year and gynaecological surveillance. This surveillance is deemed burdensome and fails to detect a small part of the developing CRCs and the majority of extra-colonic cancers. To ensure prevention and early detection of cancer, a reliable and accessible test is needed. Recent studies have shown the potential of the detection of tumor-derived DNA fragments (circulating tumor DNA; ctDNA). Various molecular characteristics can be used to discriminate ctDNA from healthy circulating cell-free DNA. Current ctDNA assays with the highest sensitivity and specificity to detect for example minimal residual disease (MRD) after surgery are mostly tumor-informed, which means prior information is needed from the tumor tissue about the molecular alterations present.
As this information is not available for the detection of newly arising tumors, the aim of this study is to evaluate the use of an optimized combination of tumor agnostic ctDNA characteristics for the detection of newly developing tumors.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Lynch-carriers with a (colorectal) tumor | Experimental | People with a newly diagnosed Lynch-associated tumor will be asked to undergo an extra blood test. |
|
| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| Blood Product | Diagnostic Test | An (extra) blood test will be done on participants. This will be analyzed for circulating tumor DNA (ctDNA) via a multi-omics approach. |
|
| Measure | Description | Time Frame |
|---|---|---|
| Estimated ctDNA fractions in blood | ctDNA presence will be measured against a (presently not specified) threshold, creating a divide between 'detectable' and 'non-detectable'. | Measurement at baseline |
| Tumor pathology | Tumor pathology will be revised to later compare with estimated ctDNA presence. | Measurement at baseline |
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Inclusion Criteria:
(suspect) Lynch Syndrome carriers who:
Exclusion Criteria:
(suspect) Lynch Syndrome carriers who:
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| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Lotte van Leeuwen, BSc | Contact | +31646245198 | l.vanleeuwen@erasmusmc.nl |
| Name | Affiliation | Role |
|---|---|---|
| Anja Wagner, Dr. | Erasmus Medical Center | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Leiden University Medical Center | Not yet recruiting | Leiden | South Holland | 2333ZG | Netherlands |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 30404863 | Background | Mouliere F, Chandrananda D, Piskorz AM, Moore EK, Morris J, Ahlborn LB, Mair R, Goranova T, Marass F, Heider K, Wan JCM, Supernat A, Hudecova I, Gounaris I, Ros S, Jimenez-Linan M, Garcia-Corbacho J, Patel K, Ostrup O, Murphy S, Eldridge MD, Gale D, Stewart GD, Burge J, Cooper WN, van der Heijden MS, Massie CE, Watts C, Corrie P, Pacey S, Brindle KM, Baird RD, Mau-Sorensen M, Parkinson CA, Smith CG, Brenton JD, Rosenfeld N. Enhanced detection of circulating tumor DNA by fragment size analysis. Sci Transl Med. 2018 Nov 7;10(466):eaat4921. doi: 10.1126/scitranslmed.aat4921. | |
| 34670587 |
| Label | URL |
|---|---|
| Information (in Dutch) on the Dutch Cancer Society website | View source |
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Participant data will be pseudonymized for privacy purposes. Also, data will be interpreted in group form, individual patients will not receive any results on individual level.
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| Type | Includes Protocol | Includes SAP | Includes ICF | Document Label | Document Date | Document Uploaded Date | Document File Name |
|---|---|---|---|---|---|---|---|
| Prot_SAP | Yes | Yes | No | Study Protocol and Statistical Analysis Plan | Apr 15, 2025 | May 16, 2025 | Prot_SAP_000.pdf |
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| ID | Term |
|---|---|
| D015179 | Colorectal Neoplasms |
| D003110 | Colonic Neoplasms |
| D003123 | Colorectal Neoplasms, Hereditary Nonpolyposis |
| ID | Term |
|---|---|
| D007414 | Intestinal Neoplasms |
| D005770 | Gastrointestinal Neoplasms |
| D004067 | Digestive System Neoplasms |
| D009371 | Neoplasms by Site |
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| ID | Term |
|---|---|
| D006403 | Hematologic Tests |
| D001800 | Blood Specimen Collection |
| D000073890 | Liquid Biopsy |
| ID | Term |
|---|---|
| D019411 | Clinical Laboratory Techniques |
| D019937 | Diagnostic Techniques and Procedures |
| D003933 | Diagnosis |
| D008919 | Investigative Techniques |
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Case-control study.
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|
| Erasmus MC | Recruiting | Rotterdam | South Holland | 3015GD | Netherlands |
|
| Background |
| Deger T, Boers RG, de Weerd V, Angus L, van der Put MMJ, Boers JB, Azmani Z, van IJcken WFJ, Grunhagen DJ, van Dessel LF, Lolkema MPJK, Verhoef C, Sleijfer S, Martens JWM, Gribnau J, Wilting SM. High-throughput and affordable genome-wide methylation profiling of circulating cell-free DNA by methylated DNA sequencing (MeD-seq) of LpnPI digested fragments. Clin Epigenetics. 2021 Oct 20;13(1):196. doi: 10.1186/s13148-021-01177-4. |
| 37805216 | Background | Schrag D, Beer TM, McDonnell CH 3rd, Nadauld L, Dilaveri CA, Reid R, Marinac CR, Chung KC, Lopatin M, Fung ET, Klein EA. Blood-based tests for multicancer early detection (PATHFINDER): a prospective cohort study. Lancet. 2023 Oct 7;402(10409):1251-1260. doi: 10.1016/S0140-6736(23)01700-2. |
| 37760576 | Result | Eikenboom EL, Wilting SM, Deger T, Srebniak MI, Van Veghel-Plandsoen M, Boers RG, Boers JB, van IJcken WFJ, Gribnau JH, Atmodimedjo P, Dubbink HJ, Martens JWM, Spaander MCW, Wagner A. Liquid Biopsies for Colorectal Cancer and Advanced Adenoma Screening and Surveillance: What to Measure? Cancers (Basel). 2023 Sep 17;15(18):4607. doi: 10.3390/cancers15184607. |
| D009369 | Neoplasms |
| D004066 | Digestive System Diseases |
| D005767 | Gastrointestinal Diseases |
| D003108 | Colonic Diseases |
| D007410 | Intestinal Diseases |
| D012002 | Rectal Diseases |
| D009386 | Neoplastic Syndromes, Hereditary |
| D030342 | Genetic Diseases, Inborn |
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D049914 | DNA Repair-Deficiency Disorders |
| D008659 | Metabolic Diseases |
| D009750 | Nutritional and Metabolic Diseases |
| D013048 | Specimen Handling |
| D011677 | Punctures |
| D013514 | Surgical Procedures, Operative |
| D001706 | Biopsy |
| D003581 | Cytodiagnosis |
| D003584 | Cytological Techniques |