Molecular Pathology of
Colorectal Cancer
Colorectal Cancer
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Molecular Pathology of Colorectal Cancer |
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| Region | Incidence Overall | Incidence Males | Incidence Females | Deaths Overall | Deaths Males | Deaths Females |
|---|---|---|---|---|---|---|
| USA | 142570 | 72090 | 70480 | 51370 | 26580 | 24790 |
| Affected Protein | Pathway | Sub-Type | Ethnicity | Stage | Frequency (%) | Gene Amplification | Activating Mutation | Inactivating Mutation | Deletion | Promoter Hypermethylation | Comment | |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| AKT1 | PI3-Kinase Signaling |
6% | mutation in PH domain (E17K) activating kinase activity | |||||||||
| APC (adenomatosis polyposis coli) | WNT Signaling |
90% | ||||||||||
| BRAF | Ras Signal Transduction Pathway |
colorectal carcinoma | 10 - 18% | more frequently in tumours harbouring MLH1 promoter hypermethylation and with a CpG island methylation phenotype (CIMP) | ||||||||
| EGF Receptor | Receptor Tyrosine Kinase Signaling |
72% | Overexpression | |||||||||
| EPHB6, EPH receptor B6 | 13% | |||||||||||
| KRAS | Ras Signal Transduction Pathway |
colorectal carcinoma | 30% | |||||||||
| LRP2 (low density lipoprotein-related protein 2 ) | 10% | |||||||||||
| MLH1 | DNA-Repair |
early | ||||||||||
| MLL3 (myeloid/lymphoid or mixed-lineage leukemia | Transcriptional regulation |
21% | ||||||||||
| obscurin (OBSCN) | 19% | |||||||||||
| p14ARF (CDKN2A) | p53 Tumor Suppressor Pathway |
primary colorectal carcinoma | 28% | occurs independently of the p16INK4a methylation status | ||||||||
| p53 | p53 Tumor Suppressor Pathway |
colorectal carcinoma | 40-61% | higher frequency observed in distal colon and rectal tumors | ||||||||
| Pi3-kinase | PI3-Kinase Signaling |
10 - 32% | arise late in tumorigenesis | |||||||||
| PKHD1,polycystic kidney and hepatic disease 1 | 16% | |||||||||||
| PTEN | PI3-Kinase Signaling |
20% | reduced or absent PTEN expression correlates with later clinical stage | |||||||||
| PTPRD (protein tyrosine phosphatase, receptor type | 10% | |||||||||||
| PYCARD (ASC/TMS1) | Apoptosis regulation |
17% | Methylation of ASC/TMS1 appears to be a late-stage event in colorectal carcinogenesis associated with invasive carcinomas but not with normal colorectal tissue or colorectal adenomas. | |||||||||
| RASSF1A (Ras-association domain family 1) | Cell Cycle Regulation |
15% | ||||||||||
| RET, ret proto-oncogene | Receptor Tyrosine Kinase Signaling |
10% | ||||||||||
| SMAD2 | 10% | |||||||||||
| SMAD4 (DPC4) | TGF-beta Signaling |
13% | ||||||||||
| SMAD4 (DPC4) | TGF-beta Signaling |
carcinomas metastasized to the liver and distant lymph nodes | 31% | |||||||||
| SMAD4 (DPC4) | TGF-beta Signaling |
intramucosal carcinomas | 10% | |||||||||
| SMAD4 (DPC4) | TGF-beta Signaling |
invasive carcinomas without distant metastasi | 7% | |||||||||
| SMAD4 (DPC4) | TGF-beta Signaling |
primary invasive carcinomas with distant metastasis | 35% | |||||||||
| TBX22 (T-box 22) | 12% | |||||||||||
| TCF7L2 (transcription factor 7-like 2) | 10% |
| See Clinical Trials in in the TTC Database |
| CANCER.GOV PDQ® - Standard Treatments for Colorectal Cancer |