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
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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
level? A mutation in just one allele of proto-oncogenes can cause over production of cells tumor, and thus tumor formation, because they are dominant. Tumor suppressor genes require mutations of both alleles to inhibit function because they are recessive.
Imagine having an almost 100% chance of developing colon cancer. That is what people are told with Familial Adenomatous Polyposis (FAP) if they do not have their over 100 polyps, or growths, removed. FAP is a genetic disorder where normal cells that line your large intestine can grow into cancerous tumors. These tumors must be removed before they become cancerous. This disorder is passed down from parents on the APC gene which is on your fifth chromosome. If the APC gene is mutated you are more likely to develop these growths which lead to cancer in your lifetime. This disorder has an autosomal dominant inheritance pattern, which means if either parent has just one dominant mutated APC gene you have a 50% chance of inheriting it. Symptoms of FAP do not just include the growths in your colon. They can also include skin changes, osteomas or bone growths, and extra or missing teeth.
Imagine a cancer that creates cancer. Lynch syndrome, which is also known as hereditary nonpolyposis collectral cancer (HNCC) is an inherited disease that is a passed down trait that increases your chance of colon cancer and other cancers as well. The cause is the trait being passed through families. There are no symptoms since it is simply passed down. They just have increased probability of developing bowel, colon and other cancers.
Throughout the years, geneticists have made ground breaking discoveries, in regards to thousands of inherited diseases. They have identified numerous mutations within the human genome that have given rise to treatments and cures for multiple genetic diseases, one of which is Familial Adenomatous Polyposis, also known as FAP. According to Half, Brocovich, and Rozen (2009)1, Familial Adenomatous Polyposis is characterized by the development of many tens of thousands adenomas in the rectum and colon during the second decade of life. Familial Adenomatous Polyposis is inherited as an autosomal dominant disease, which is the reason why there is a relatively equal occurrence rate in males and females. FAP results from a germline mutation in the adenomatous
Hssb1 is a protein which is critical for genome stability. It detects and promotes repair to damaged DNA and signals for other proteins to repair the cell, and if it is unsuccessful, it essentially tells the cell to commit suicide. Hssb1 ensures that the strands repairs properly however, if there is a mutation on the hssb1, the damage goes unrepaired. Cancer is a disease of bodily cells. Where cells normally divide and multiply in a controlled way through mitosis and controlled by cyclins, there can be mutations in these cells that cause control of the growth and multiplication of these cells to be lost. Cancer is a collection of these out-of-control cells which are known as malignant tumours. Mutations are random changes in the base sequence of the genes and in the cells can be caused by genes that can become
Lynch syndrome is a cancer that can lead to colon cancer and other deadly cancers. The major causes of lynch syndrome is MLH1, MSH2, MSH6, PMS2, APC, BMPR1A, MUTYM, PTEN, SMAD4, STK11, TP55, EPCAM. People have a high risk of large bowel cancer as well as cancer of the endometrium, stomach, small bowel, upper urinary tract, ovaries, and the brain.
Braca 2 is a mutation for breast and ovarian cancer, which means not only is there higher risk of getting breast cancer but ovarian cancer also at a much younger age and for men this gene presents its self in the form of breast cancer and prostate cancer.
High-risk families include those whose members carry a mutation in the BRCA2 gene. The mutated BRCA2 gene is inherited in an autosomal dominant pattern. A child needs to inherit just one copy of the mutated gene to have an increased cancer risk. Children who have a parent with a BRCA2
There are twelve major types of cancer that affect most Americans and they can be related by the mutation of genes. Cancer is not just one disease, but a massive group with over 100 diseases by unrestrained and vicarious growth of the cells in the body and have the ability of the cells to propagate. One out of every four Americans will die from cancer. It is the second leading cause of death in this country, surpassed only by heart disease. Five to ten percent of cancer are genetic and hereditary. 1.2 million new cases are found in every year the United States, “Men have a one in two lifetime risk of developing cancer, and for women the risk is one in three” (Freivogel 201).
Colorectal cancer is the third most common cancer among men and women in the United States, and mutations in the MUTYH gene significantly increase the risk of developing polyps that may evolve into cancer.1,2 Biallelic mutations in the MUTYH gene can lead to MYH-Associated Polyposis (MAP), which causes the growth of dozens to hundreds of polyps, furthering increasing the risk for colon cancer.2 Meanwhile, recent studies have shown that both biallelic and monoallelic mutations can contribute to bladder, ovarian, gastric, hepatobiliary, endometrial, and breast cancer.3 The MUTYH gene itself codes for the MYH glycosylase enzyme, which repairs mistakes in DNA caused by reactive oxygen species.3,4 Also a sign of oxidative stress, the oxidation product, 8-oxo-7,8-dihydro-2-deoxyguanosine (OG), mimics thymine, eventually matching with adenine and resulting in a complete loss of the cytosine-guanine pair.4 MUTYH removes the undamaged A base from the mismatched pair, aiding in the correction of such damage.4 However, when MUTYH is mutated, there is an increase in G to T mutations, which can eventually affect the tumor suppressor genes APC and K-ras and lead to tumor formation.4 The MUTYH variants Y165C and G382D are the most common mutations seen in individuals with MAP, and for this reason are of great interest in research working towards reducing the risk of colorectal cancer.2,4 In recent years, the CRISPR/Cas system for gene editing has become the preferred method for
The paper can help us understand how transmissible cancers emerged and then we can link it to humans to avoid the evolution of cancer in humans.
Colon cancer is considered as the second killer cancer in United States and Western Europe (1). Moreover, in the U.S it is the third common cancer ,and the risk is about 6 percent(1).It mostly affects elderly men and women, and the risk to the people who are African-Americans higher (1). Moreover, a personal history or family history makes the risk greater and the lifestyle effects too (1). For example, if the person overweight or suffers from obesity, that makes him under the risk. However, what is the Colon cancer?, and why is it a deadly disease ?.This will present in this essay based on a definition of colon cancer and its symptoms, screening, treatment.
Tumor suppressor genes encode proteins, inhibiting excessive cell proliferation and division, through protein inhibitors for cell cycle progression or promoting differentiation and apoptosis via proteins that involved in induction of apoptosis. Mutations that cause inactivation or loss of function in these tumor suppressor genes, result in inactivation of P53, pRb, PTEN, NF1/NF2. The mutations can be deletion or insertion, nonsense or missense mutations, frame shift mutations, or epigenetic tuning events such as methylation, which lead to neoplasia. These mutations are recessive and clinically important, only when they appear as homozygous or a combination with heterozygous alteration. The
Inside the cells of our body, some genes in the nucleus are responsible for regulating the growth of cells and keeping them healthy. Usually, old cells are replaced with new healthy cells. However, in the case of mutation, some genes
A variety of environmental factors as well as heredity play a role in causing colon cancer. These factors might include cigarette smoking, working in a place where chemicals are often inhaled, or exposure to other carcinogens. However, the average individual doesn’t know what causes cancer at a biological level. According to Simon, Reece, and Dickey (2012) a gene that causes cancer is known as an oncogene or a tumor gene