Mismatch Repair Genes and Cancer Essay Example | Topics and Well Written Essays - 500 words

Mismatch Repair Genes and Cancer - Essay Example The study attempted to screen for two major types of mutations. One type of mutation that was tested for was the loss of heterozygosity, which is a type of mutation that generates a change in the type of genetic transmission of cells. The other type of mutation that was screened in the study was microsatellite instability. This mutation is usually observed in long sequences that were composed of repeating segments. These two types of mutations were considered to be important in determining whether a certain gene does influence the development of cancer. The study was conducted in a Portugese hospital, wherein approximately 287 patient subjects participants. These patients were already diagnosed to have breast cancer. In addition, there were 547 individuals who also participated in the study as controls, or individuals who were pre-determined to be normal and healthy. The study wanted to estimate the chances of developing breast cancer based on the presence and number of mutations in the MMR genes that were studied. The MMR genes tested in the investigation included the mismatch repair genes of the MSH family, as well as that of the MLH family. The PMS1 and MUTYH were also other genes that belonged to the MMR class of repair genes.