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Colon Cancer Essay

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Colon Cancer

Disease Name: Colon Cancer
Chromosome Number: #2
Locus Designation: 2p16

In the summer of 1993 researchers discovered a gene, known as MSH2, is lacking within colon cells. The MSH2 genes main function is to detect and correct small mutations that occur during cell division. The cause of colon cancer arises when this gene does not provide this protection to colon cells. This lack of protection causes multiple mutations within the colon cells until they become cancerous.

Only about 6% of all colorectal cancer is said to be hereditary. Sporadic, or non hereditary colorectal cancer, makes up the other 94%. Hereditary colorectal cancer is made up of two syndromes- HNPCC (Hereditary Non Polyposis …show more content…

In codon 1309 there was a 5 base pair deletion found within exon 15. This mutation in codon 1309 leads to development of colonic polyps, thus leading to earlier malignant transformation. The defective genes job to identify and repair somatic mutations in DNA during cell division was later referred to as microsatellite instability. It was identified in a number of genes through screenings of blood tests. This microsatellite instability lead in some cases to loss of imprinting, but further research is need to determine if this loss of imprinting in healthy people will lead to the development in cancer. A study done in 1997 revealed that the microsatellite instability in genes p53, RAS, and APC fit 85% of colon carcinomas, many of which were aneuploidy and all sequential mutations of those genes. The rest were deficient in DNA mis- match repair genes which tended to have near diploid genotypes. This study was tested with cultures, it is now being tested with clinical specimens.

Lots of research has been done since the MSH2 gene was found in 1993. Now with advancements in technology researchers are finding more accurate and through ways of determining and analyzing the causes of colon cancer. Ever year more and more genes are being found that lead to the development of colon cancer. In 1997, researchers in Yeshiva University found another mis- match repair gene that leads to colon cancer. Researchers found a germline MSH6 mutation in a

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