gari3008ma / rna-seq Goto Github PK

Colorectal cancer is a cancer that starts in the colon or the rectum. These cancers can also be named colon cancer or rectal cancer, depending on where they start. Colon cancer and rectalcancer are often grouped together because they have many features in common. Cancer starts when cells in the body begin to grow out of control. Cells in nearly any part of the body can become cancer, and can spread to other areas of the body. Perhaps the most widely used targeted sequencing method is exome sequencing. The exome (the protein coding region of the human genome) represents less than 2% of the genetic code, but contains ~85% of known disease related variants,1 making whole​ exome sequencing a cost​ effective alternative to whole genome sequencing.Exome sequencing can efficiently identify coding variants across a wide range of applications, including population genetics, genetic disease, and cancer studies With the emergence of nextgen sequencing technologies, it is now possible to extensively and rapidly evaluate a large number of genes and samples to inform its diagnosis, prognosis and potential response to therapy.Previous genetic and genomic studies of CRC have identified many of the critical drivers that are important to CRC development . For example, the cancer genes APC, KRAS and TP53 have a high frequency of genetic aberrations in CRC and are known to play an essential role in CRC development.Some of pathways important in the initiation and progression of CRC are the WNT,RAS2MAPK, PI3K, TGF​ b, P53 and DNA mismatch repair pathways.While the cancer genes directly responsible for CRC development have been characterized, less is known about which cancer genes delineate advanced versus early stage CRC.In this study our objective is to discover novel recurrently mutated genes in colorectal cancer and the different pathways of colorectal carcinogenesis and provide an overview of the molecular pathogenesis of colorectal cancer.