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What is cancer Peutz-Jeghers syndrome?
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- cancer peutz-jeghers syndrome
Peutz-Jeghers syndrome is a genetic disorder in which polyps form in the intestine and dark spots appear on the mouth and fingers. Having PJS increases the risk of developing gastrointestinal and many other types of cancer. Also called PJS. Syndrome is a set of symptoms or conditions that occur together and suggest the presence of a certain disease or an increased chance of developing the disease. Cancer is a term for diseases in which abnormal cells divide without control and can invade nearby tissues. Cancer cells can also spread to other parts of the body through the blood and lymph systems. There are several main types of cancer. Carcinoma is a cancer that begins in the skin or in tissues that line or cover internal organs. Sarcoma is a cancer that begins in bone, cartilage, fat, muscle, blood vessels, or other connective or supportive tissue. Leukemia is a cancer that starts in blood-forming tissue such as the bone marrow, and causes large numbers of abnormal blood cells to be produced and enter the blood. Lymphoma and multiple myeloma are cancers that begin in the cells of the immune system. Central nervous system cancers are cancers that begin in the tissues of the brain and spinal cord. Also called malignancy.
Preview- You can notice, mutation detection rates of 10-94% have been achieved at different centers, depending on the screening method, with considerable uncharacterized genetic heterogeneity remaining in this syndrome [2,7]. Most mutations are frameshift or nonsense changes, which result in an abnormal truncated protein and the consequent loss of kinase activity [8]. Mutation, any change in the DNA sequence of a cell. Mutations may be caused by mistakes during cell division, or they may be caused by exposure to DNA-damaging agents in the environment. Mutations can be harmful, beneficial, or have no effect. If they occur in cells that make eggs or sperm, they can be inherited; if mutations occur in other types of cells, they are not inherited. Certain mutations may lead to cancer or other diseases. Kinase is a type of enzyme (a protein that speeds up chemical reactions in the body) that adds chemicals called phosphates to other molecules, such as sugars or proteins. This may cause other molecules in the cell to become either active or inactive. Kinases are a part of many cell processes. Some cancer treatments target certain kinases that are linked to cancer. Protein is a molecule made up of amino acids. Proteins are needed for the body to function properly. They are the basis of body structures, such as skin and hair, and of other substances such as enzymes, cytokines, and antibodies. Abnormal, not normal. Describes a state, condition, or behavior that is unusual or different from what is considered normal. An abnormal lesion or growth in or on the body may be benign (not cancer), precancerous or premalignant (likely to become cancer), or malignant (cancer). Screening, checking for disease when there are no symptoms. Since screening may find diseases at an early stage, there may be a better chance of curing the disease. Examples of cancer screening tests are the mammogram (breast), colonoscopy (colon), and the Pap test and HPV test (cervix). Screening can also include checking for a person`s risk of developing an inherited disease by doing a genetic test. Genetic, inherited; having to do with information that is passed from parents to offspring through genes in sperm and egg cells.
- It`s been discovered that, PJS Peutz-Jeghers syndrome; STK11 Serine threonine kinase 11; GI gastrointestinal. Gastrointestinal, refers to the stomach and intestines. Also called GI. PJS is a genetic disorder in which polyps form in the intestine and dark spots appear on the mouth and fingers. Having PJS increases the risk of developing gastrointestinal and many other types of cancer. Also called Peutz-Jeghers syndrome. GI, refers to the stomach and intestines. Also called gastrointestinal.
- As an example, development of the PJS phenotypes is believed to be due to the elimination of the kinase activity of STK11, which is associated with a loss of growth suppression function [12]. Recently, several proteins, including p53, Cdc37, Hsp90, and PTEN, which are responsible for cancer syndromes when mutated or involved in cancer pathways, were reported to interact with the kinase domain of STK11; however, the protein interaction domains have not been mapped [13]. Accordingly, the interaction domain for one of these proteins may be localized to codon 302, and therefore could explain the high cancer risk of mutations within this site. PTEN is a protein that helps control many cell functions, including cell division and cell death. Mutations (changes) in the gene that makes PTEN are found in many types of cancer and other diseases. It is a type of tumor suppressor protein. Also called PTEN tyrosine phosphatase. HSP, one of a group of proteins that help protect cells from stresses such as heat, cold, and low amounts of oxygen or glucose (sugar). HSPs help other proteins function in normal cells and may be present at high levels in cancer cells. Blocking the activity of a HSP called HSP90 is being studied in the treatment of cancer. Other HSPs including HSP70 and gp96 are being studied in vaccines to treat cancer. Also called heat-shock protein and stress protein. Localized, restricted to the site of origin, without evidence of spread.
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