Personal+genomic+of+Colorectal+cancer-+Discussion


 * Discussion **

Colorectal cancer is the third commonly diagnosed cancer and the third leading cause of cancer death in the U.S. Some of the causes of that cancer believed to be related to genetic. People with family history of colon cancer have higher chance in getting this disease, because of genes mutations of the FAP (familial adenomatous polyposis) and HNPCC (Hereditary Nonpolyposis Colorectal Cancer). According to the genetic model of colorectal tumorigenesis, cancers develop over the course of 20–40 years due to genetic disruption of the APC, RAS, and p53 pathways. Therefore, gaining a better understand of that disease have been growing, and gaining a better understanding of the genetic make up that causes that cancer to show and hopefully finding a cure from it.

 Our result from figure 1, shows the migration pattern of populations going back to 125,000 years ago with each population's level of risk depending on its geographic area, these population showed a genetic evidence of having the colon cancer mutation genes. Figure 2 shows the starting of the pattern for human that carry the colorectal cancer gene mutation, starting from Africa going to Europe than to central south Asia 45,000 years ago, then to East Asia 40,000 ago, to end with the most recent migration reaching America 15,000 years ago with the number of SNPs discovered and show evidence to be related to the appearance of this diseases in each of these population. The International HapMap project identify genetic similarities and differences in human beings. The goal of the project is to compare the genetic sequences of different individuals to identify chromosomal regions where genetic variants are shared, and help biomedical researchers find genes involved in disease and responses to therapeutic drugs. Figure 3 and 4 are information of the genetic SNPS fata of gene APC which is related to colon cancer. Figure 3, shows the landmark region of that gene, APC gene is found on two different chromosome, chromosome 2 and 4. Also each chromosome has an identified sequence, the image shows that on chromosome 2, NM_000251 is the identified locus mutated in HNPCC. On chromosome 3 the SNP sequence is NM_000249 was the mutated locus in HNPCC. Figure 4 shows the genotyped SNPS and the entree genes that is associated with NM_000251 sequence. In regards of genetic SNPs and allele frequencies in population, we have investigated the Ensembl data base. and interesting finding presented in figure 5. Enseble data shows the numbers of known variants associated with the APC ENSG00000134982. The variant that was studied here is rs530352962, then more information about this SNP data was collected; also allele frequencies in different populations, for example more studies in the African (AFR) or American (AMR) have been done to know more about that allele frequencies in the population. People with family history of Colon Cancer have higher chance in getting this disease, because of genes mutations of the FAD (familial adenomatous polyposis) and HNPCC (hereditary Nonpolyposis Colorectal Cancer). APC gene is an inherited gene that keeps cell growth in check, a miss-function of that gene could lead to Familial adenomatous polyposis (FAP), where cancer can grow forming polyps in the colons. Mutations of the mismatch repair (MMR) genes (hMSH2, hMLH1, and hPMS2) believed to be responsible to the HNPCC cancer.

Background Materials and Methods Results Broader Impact Work Cited