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A study of carcinogenesis-related molecular markers in the patients with colorectal cancer and colorectal adenoma.
The chromosomal instability (CIN) pathway, the CpG island methylator phenotype (CIMP) pathway and the microsatellite instability (MSI) pathway are three major carcinogenesis pathways to colorectal cancer (CRC). In this study, the investigators aimed to investigate distinctive molecular features of carcinogenesis pathways among healthy control, colorectal adenoma, and CRC and compare their molecular progression according to patients' sex and tumor location as well as disease stage.
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| Label | Type | Description | Intervention Names |
|---|---|---|---|
| Control group | Patients who are not diagnosed with colorectal adenoma or colorectal cancer | ||
| Colorectal adenoma group | Patients who are diagnosed with colorectal adenoma | ||
| Colorectal cancer group | Patients who are diagnosed with colorectal cancer |
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| Measure | Description | Time Frame |
|---|---|---|
| The characteristics of carcinogenesis-related molecular markers in colorectal adenoma and CRC | Using endoscopically biopsied specimens, multiple carcinogenic markers were investigated including KRAS and BRAF mutation, PD-L1, EGFR, IL-1b, NLRP3, Caspase-1, p53 expression, Microinstability (MSS, MSI-L, MSI-H), PD-L1, DNA mismatch repair proteins (MLH1, MSH2, MSH6, PMS2), CIMP markers (p16, MINT1, MINT2, MINT31, hMLH1), promoter methylation of p16, RUNX3, NEUROG1. CIMP was assessed by methylation-specific PCR for five methylation panel markers (p16, MINT1, MINT2, MINT31, hMLH1), and MSI status was validated by PCR using five NCI markers (BAT-26, BAT-25, D5S346, D17S250, and S2S123). KRAS and BRAF mutation was analyzed by direct sequencing using sequence-specific primers from the acquired biopsy specimens. PD-L1, EGFR, MMR expression was examined using immunohistochemistry. | through study completion, an average of 1 year |
| Fecal microbiota analysis in patients with colorectal adenoma and CRC | Using next-generation sequencing technique, fecal microbiota of patients with colorectal adenoma and CRC as well as healthy control was evaluated to verify carcinogenesis-related microbiota. | through study completion, an average of 1 year |
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Inclusion Criteria:
Exclusion Criteria:
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Patients who visited Seoul National University Bundang Hospital for gastrointestinal symptomes or regular check-ups, and agreed to participate.
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| Name | Affiliation | Role |
|---|---|---|
| Nayoung Kim, M.D., Ph.D | Seoul National University Bundang Hospital | Study Chair |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Seoul National University Bundang Hospital | Seongnam-si | Gyeonggi-do | 463-707 | South Korea |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 36802389 | Derived | Choi J, Kim N, Nam RH, Kim JW, Song CH, Na HY, Kang GH. Influence of location-dependent sex difference on PD-L1, MMR/MSI, and EGFR in colorectal carcinogenesis. PLoS One. 2023 Feb 21;18(2):e0282017. doi: 10.1371/journal.pone.0282017. eCollection 2023. |
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| ID | Term |
|---|---|
| D015179 | Colorectal Neoplasms |
| D063646 | Carcinogenesis |
| ID | Term |
|---|---|
| D007414 | Intestinal Neoplasms |
| D005770 | Gastrointestinal Neoplasms |
| D004067 | Digestive System Neoplasms |
| D009371 | Neoplasms by Site |
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Endoscopically biopsied samples, blood samples, fecal samples
| D009369 | Neoplasms |
| D004066 | Digestive System Diseases |
| D005767 | Gastrointestinal Diseases |
| D003108 | Colonic Diseases |
| D007410 | Intestinal Diseases |
| D012002 | Rectal Diseases |
| D009385 | Neoplastic Processes |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |