Here I present: “Colorectal Cancer”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 結直腸癌。(CRC).
INTRODUCTION.
Colorectal cancer (CRC) is a heterogeneous disease that is common in both men and women. In addition to lifestyle and environmental risk factors, gene defects can contribute to an inherited predisposition to CRC. CRC is caused by changes in different molecular pathogenic pathways, such as chromosomal instability, CpG island methylator phenotype, and microsatellite instability. Chromosome instability is the most common alteration and is present in almost 85% of all cases.
The APC gene encodes a multidomain protein that plays a major role in tumor suppression by antagonizing the WNT signaling pathway. Inappropriate activation of this pathway through loss of APC function contributes to cancer progression, as in familial adenomatous polyposis (FAP). APC also has a role in cell migration, adhesion, chromosome segregation, spindle assembly, apoptosis, and neuronal differentiation.
There is evidence that colorectal cancer (CRC) is caused by mutation in the APC gene on cytogenetic location 5q22.2 and genomic coordinates 5:112,707,498-112,846,239. The screenshot of the APC gene 138,742 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides APC in the 5q22.2 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 5:111,223,583 | CAMK4 | Ca(2+)-calmodulin kinase type IV |
| 5:111,496,033 | STARD4 | Start domain-containing protein 4 |
| 5:111,728,802 | NREP | Neuronal regeneration-related protein |
| 5:112,141,829 | EPB41L4A | Erythrocyte membrane protein band 4.1-like 4A |
| 5:112,707,498 | APC | APC regulator of WNT signaling pathway |
| 5:112,861,287 | SRP19 | Signal recognition particle, 19kD |
| 5:112,876,385 | REEP5 | Receptor expression-enhancing protein 5 |
| 5:112,976,798 | DCP2 | Decapping mRNA 2 |
| 5:113,022,106 | MCC | MCC regulator of WNT signaling pathway |
| 5:113,432,553 | TSSK1 | Testis-specific serine/threonine kinase 1 |
