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EMSY
EMSY A novel protein that connects the familial and sporadic forms of breast cancer and ovarian cancer. Some cases of breast and ovarian cancer are familial and strike women in the same family who have a heritable mutation of a gene called BRCA2 that is involved in DNA repair. However, these genetic cases are in the minority. Most cases of breast and ovarian cancer are sporadic. They occur in women with no family history of these cancers. In sporadic breast and ovarian cancer, EMSY is amplified and overexpressed. EMSY suppresses the activity of the BRCA2 gene. The overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer. EMSY connects sporadic breast and ovarian cancer to BRCA2.
RELATED TERMS--------------------------------------
Protein
Any of a group of complex organic compounds which contain carbon, hydrogen, oxygen, nitrogen, and usually sulfur, the characteristic element being nitrogen. Proteins, the principal constituents of the protoplasm of all cells, are of high molecular weight and consist essentially of combinations of a-amino acids in peptide linkages. Twenty different amino acids are commonly found in proteins, and each protein has a unique genetically defined amino acid sequence which determines its specific shape and function. Their roles include enzymatic catalysis, transport and storage, coordinated motion, nerve impulse generation and many others.
Familial
A condition that is tends to occur more often in family members than expected by chance alone. A familial disease may be genetic (such as cystic fibrosis) or environmental (such as tuberculosis).
Breast
The breast refers to the front of the chest or, more specifically, to the mammary gland. The mammary gland is a milk producing gland. It is composed largely of fat. Within the mammary gland is a complex network of branching ducts. These ducts exit from sac-like structures called lobules, which can produce milk in females. The ducts exit the breast at the nipple.
Cancer
Any malignant growth or tumor caused by abnormal and uncontrolled cell division; it may spread to other parts of the body through the lymphatic system or the blood stream.
Family
1. A group of individuals related by blood or marriage or by a feeling of closeness. 2. A biological classification of related plants or animals that is a division below the order and above the genus. 3. A group of genes related in structure and in function that descended from an ancestral gene. 4. A group of gene products similarly related in structure and function and of shared genetic descent. 5. Parents and their children. The most fundamental social group in humans.
Mutation
A change in DNA that alters a gene and thus the gene's product, leading in some cases to deformity or disease. Mutations can occur spontaneously during cell division or can be triggered by environmental stresses, such as sunlight, radiation, and chemicals.
Gene
1. A unit of DNA that carries information for the biosynthesis of a specific product in the cell. 2. Ultimate unit by which inheritable characteristics are transmitted to succeeding generations in all living organisms. Genes are contained by, and arranged along the length of, the chromosome. The gene is composed of deoxyribonucleic acid (DNA). Each chromosome of each species has a definite number and arrangement of genes, which govern both the structure and metabolic functions of the cells and thus of the entire organism.
BRCA2
A gene that normally acts to restrain the growth of cells in the breast and ovary but which, when mutated, may predispose to breast cancer and to ovarian cancer. BRCA2 mutations have also been discovered to be responsible for a significant fraction of early-onset prostate cancer. The first breast cancer genes identified were BRCA1 and BRCA2. Mutations of BRCA1 and BRCA2 account for about half of all cases of inherited breast cancer. These tumors tend to occur in young women. BRCA1 and BRCA2 are usually not involved in breast cancer that is not hereditary.
Genetic
Hereditary. Having to do with the genes.
EMSY
A novel protein that connects the familial and sporadic forms of breast cancer and ovarian cancer. Some cases of breast and ovarian cancer are familial and strike women in the same family who have a heritable mutation of a gene called BRCA2 that is involved in DNA repair. However, these genetic cases are in the minority. Most cases of breast and ovarian cancer are sporadic. They occur in women with no family history of these cancers. In sporadic breast and ovarian cancer, EMSY is amplified and overexpressed. EMSY suppresses the activity of the BRCA2 gene. The overlap between sporadic EMSY amplification and familial BRCA2 deletion implicates a BRCA2 pathway in sporadic breast and ovarian cancer. EMSY connects sporadic breast and ovarian cancer to BRCA2.
Amplification
"Making multiple copies of a gene or of any sequence of DNA. Repeated copying of a piece of DNA. In amplification there is an increase in the number of copies of any particular piece of DNA. Gene amplification plays a role in cancer cells. A tumor cell amplifies, or copies, DNA segments as a result of cell signals and sometimes environmental events. Amplification can occur in vivo (in the living individual) or in vitro (literally ""in glass"", or in a plastic vessel in the laboratory). "
Deletion
Loss of a segment of DNA from a chromosome (and hence from the genome).
SIMILAR TERMS--------------------------------------
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Emia
Suffix meaning blood or referring to the presence of a substance in the blood. As for example, anemia (lack of blood) and hypervolemia (too high a volume of blood).
Emotional eating
Emotional eating is the practice of consuming large quantities of food -- usually "comfort" or junk foods -- in response to feelings instead of hunger. Experts estimate that 75% of overeating is caused by emotions.
Empiric risk
The chance that a disease will occur in a family based upon experience (past history, medical records, etc.) rather than theory.
Empirical
Based on experience and observation, rather than systematic logic. Experienced physicians often use empirical reasoning to make diagnoses, based on having seen many cases over the years. Less-experienced physicians are more likely to use diagnostic guides and manuals. In practice, both approaches (if properly applied) will usually come up with the same diagnosis.
Empirical midwife
A midwife who has entered the profession as an apprentice to a practicing midwife rather than attending a formal school program.
EMSY
Encephalitis, LAC
LaCrosse encephalitis. An arbovirus is a virus that is arthropod-borne (carried by a mosquito, tick or another kind of arthropod). The arbovirus infects and inflames the brain. LAC encephalitis was first found in a 4-year-old in LaCrosse, Wisconsin in 1963. Since then, the virus has been identified in a number of Midwestern and Mid-Atlantic states. During an average year, about 75 cases of LAC encephalitis are reported to the CDC. However, the cases that are reported are probably just the tip of a much larger iceberg.
Encephalitis, LaCrosse
An arbovirus is a virus that is arthropod-borne (carried by a mosquito, tick or another kind of arthropod). The arbovirus infects and inflames the brain. LaCrosse encephalitis was first found in a 4-year-old in LaCrosse, Wisconsin in 1963. Since then, the virus has been identified in a number of Midwestern and Mid-Atlantic states. During an average year, about 75 cases of LAC encephalitis are reported to the CDC. However, the cases that are reported are probably just the tip of a much larger iceberg.
Encephalitis, Nipah virus
Brain inflammation (encephalitis) due to the Nipah virus that infects pigs and people. The main risk factor for Nipah virus encephalitis is recent contact with pigs. Most patients have had direct contact with pigs in the two weeks preceding the onset of the illness. The infection may spread to people through contact with pig secretions such as feces or saliva or through contact with infected dogs.
Encephalitis, Rasmussen
A rare progressive neurological disorder that is characterized by intractable seizures and progressive neurologic deterioration. To be more precise, there are frequent and severe seizures (convulsions), progressive loss of motor skills and speech, hemiparesis (paralysis on one side of the body), encephalitis (inflammation of the brain), dementia, and mental deterioration. The disorder affects a single brain hemisphere (one side or the other of the brain but not both sides) and generally occurs in children under the age of 15.
Encephalitis, St. Louis
A disease caused by a virus transmitted from birds to the common Culex mosquito to people. Signs and symptoms include the sudden onset of drowsiness, headache and nausea (due to the encephalitis), pain in the abdomen, a rash, and swollen glands (lymphadenopathy). These features are usually but not always mild. The fatal cases tend to involve infants and small children (under age 5), the aged, and people with an impaired immune system. The virus is closely related to other flaviviruses including those responsible for West Nile encephalitis, Japanese encephalitis and Murray Valley encephalitis.
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