Glossary of Terms
A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z
abdomen - area between the chest and the hips that contains the stomach, small intestine, large intestine, liver, gallbladder, pancreas, and spleen.
ablative therapy - treatment that removes or destroys the function of an organ, such as surgical removal of an organ or some types of chemotherapy.
abnormality - a health problem or feature not normally present in a healthy individual.
acquired mutations - mutations in somatic cells that we are not born with, but that occur by chance over time. Acquired mutations are not present in all cells of the body, are not inherited, and are not passed down to our children.
actinic keratosis - a precancerous condition of thick, scaly patches of skin.
acupressure - a type of massage in which finger pressure is applied to particular points on the body.
acupuncture - a pain relief technique of traditional Chinese medicine in which thin needles are inserted in the skin at particular points.
adenocarcinoma - a cancer that develops in the lining or inner surface of some organs and have secretory characteristics, such as in the ducts or lobules of the breast.
adenoma - benign growths that often appear on glands or in glandular tissue.
advance directives - documents that a person can complete to ensure that healthcare choices are respected.
alopecia - a partial or complete loss of hair that may result from radiation therapy to the head, chemotherapy, skin disease, drug therapy, and natural causes.
alternative therapy - a term referring to practices and products that are not considered to be part of conventional medicine and are used instead of conventional medicine.
amplification - the production of many copies of a region of DNA.
anesthesia - lack of normal sensation, especially the awareness of pain, which may be brought on by anesthetic drugs. General anesthesia causes loss of consciousness; local or regional anesthesia causes loss of feeling only to a specified area.
angiogenesis - the natural body process of growing new blood vessels.
angioma - a benign tumor in the skin, which is made up of blood or lymph vessels.
anomaly - a health problem or feature not normally present in a healthy individual; a deviation from the normal.
antacids - medications that balance acids and gas in the stomach.
antibiotic - chemical substances that are either produced from cultures of microorganisms or produced artificially for the purpose of killing other organisms that cause disease. Antibiotics may be needed along with the cancer treatment to prevent or treat infections.
anticholinergics - medications that calm muscle spasms in the intestine.
anticipatory grief - the deep emotional distress that occurs when someone has a prolonged illness and death is expected often by the patient as well as the family. Anticipatory grief can be just as painful and stressful as the actual death of the person.
antidiarrheals - medications that help control diarrhea.
antiemetics - medications that prevent and control nausea and vomiting.
antigen - a substance that can trigger an immune response causing the production of antibodies as part of the body's defense against infection and disease.
antioxidant - a substance that protects the body cells from damage caused by free radicals (by-products of the body’s normal chemical processes).
antispasmodics - medications that help reduce or stop muscle spasms in the intestines.
aspiration - the withdrawal of fluid from the body.
asymptomatic - to be without noticeable symptoms of disease.
atypical - not usual; often refers to the appearance of precancerous or cancerous cells.
autopsy - an examination of the organs and/or tissues of the body after death. An autopsy is often used to determine the cause of death, but may also be done to research the fatal disease for future diagnosis, treatment, and prevention strategies.
autosomal dominant inheritance - a mutation or alteration in a gene that lies on one of the first 22 pairs of chromosomes, which, when present in one copy, causes a trait or disease to be expressed.
autosomal recessive inheritance - a mutation or alteration in a gene that lies on one of the first 22 pairs of chromosomes, which, when present in two copies, causes a trait or disease to be expressed.
autosome - Any chromosome other than a sex chromosome; there are 22 pairs of these chromosomes.
[return to top]
barium - a metallic, chemical, chalky, liquid used to coat the inside of organs so that they will show up on an x-ray.
barium enema (Also called lower GI, or gastrointestinal, series.) - a procedure that examines the rectum, the large intestine, and the lower part of the small intestine. A fluid called barium (a metallic, chemical, chalky, liquid used to coat the inside of organs so that they will show up on an x-ray) is given into the rectum as an enema. An x-ray of the abdomen shows strictures (narrowed areas), obstructions (blockages), and other problems.
basal cells - type of cells that are found in the outer layer of skin. Basal cells are responsible for producing the squamous cells in the skin.
basal cell carcinoma - the most common form of skin cancer; characterized by small, shiny, raised bumps on the skin that may bleed.
benign - cell growth that is not cancerous, does not invade nearby tissue, or spread to other parts of the body. Replace the existing definition with this one.
benign prostatic hyperplasia (Also called BPH or benign prostatic hypertrophy.) - an enlargement of the prostate caused by disease or inflammation. It is not cancer, but its symptoms are often similar to those of prostate cancer.
bereavement - the state of being bereaved; to be in a sad or lonely state due to a loss or death.
biochemical genetic testing - a test to study specific enzymes or biochemical products (for example amino acids, organic acids) in the body.
biofeedback - a form of mind control over the body that allows a person to reduce sensations of pain.
bilateral - affecting both sides of the body. Bilateral breast cancer is cancer occurring in both breasts at the same time. Replace the existing definition with this one.
bile - fluid made by the liver and stored in the gallbladder. Bile helps break down fats and gets rid of wastes in the body.
bile acids - acids made by the liver that work with bile to break down fats.
bile ducts - tubes that carry bile from the liver to the gallbladder for storage and to the small intestine for use in digestion.
bilirubin - a yellow-green color substance formed when hemoglobin breaks down. Bilirubin gives bile its color. Bilirubin is normally passed in stool. Too much bilirubin causes jaundice.
biological therapy (Also called immunotherapy, biotherapy, or biological response modifier therapy.) - uses the body's immune system, either directly or indirectly, to fight cancer or to lessen side effects that may be caused by some cancer treatments (i.e., Interferon).
biopsy - the removal of tissue for examination under a microscope.
birth defect - a health problem present at birth.
bladder -a triangle-shaped, hollow organ located in the lower abdomen that holds urine. It is held in place by ligaments that are attached to other organs and the pelvic bones. The bladder's walls relax and expand to store urine, and contract and flatten to empty urine through the urethra.
bowel - another word for the small and large intestines.
bowel movement - body wastes passed through the rectum and anus.
bowel prep - process used to clean the colon with enemas and a special drink; used before surgery of the colon, colonoscopy, or barium x-ray.
brain scan - an imaging method used to find abnormalities in the brain, including brain cancer and cancer that has spread to the brain from other places in the body.
BRCA1 - a gene (on chromosome 17), which, when altered, indicates an inherited susceptibility to breast, ovarian, or prostate cancer. Jay, also add to genetics glossary.
BRCA2 - a gene (on chromosome 13) which, when altered, indicates an inherited susceptibility to breast, ovarian, prostate cancer, and other cancer types. Jay, also add to genetics glossary.
breast self-examination (BSE) - a method in which a woman examines her breasts and the surrounding areas for lumps or changes. A BSE should be performed once a month, usually at a time other than the days before, during, or immediately after the menstrual period.
[return to top]
cancer susceptibility gene - a gene, that when mutated, gives a person a risk for developing certain types of cancer(s) that is greater than the general population risk.
carcinogens - environmental factors known to increase the risk of cancer.
carrier testing - testing performed to determine whether a person carries one copy of an altered gene for a particular recessive disease.
cells - basic working units of living systems, which contain DNA.
chromosome - a structure in the nucleus of cells which contains genes. Humans usually have 23 pairs of chromosomes.
codon - a coding unit in a DNA sequence specifying amino acids, the building blocks of proteins.
congenital - present at birth.
congenital anomaly - a health problem present at birth (not necessary genetic).
cytogenetics - the study of chromosomal material.
[return to top]
de novo - new, not present previously in a family.
deletion - when a part of a chromosome is missing, or part of the DNA code is missing.
diagnostic testing - used to identify or confirm the diagnosis of a disease or a condition in a person or a family.
direct DNA studies - studies which look directly at the gene in question for an error (mutation).
DNA - deoxyribonucleic acid, the molecules in cells that carry genetic information.
[return to top]
enzyme replacement therapy (ERT) - replacing the enzyme which is missing or defective in a genetic disease.
extended banding chromosome study - a study that involves stretching out the chromosomes to a greater length than usual allowing more detail of each small piece (band) of the chromosome material to be seen.
[return to top]
false negative - a test result that indicates a normal result when there actually is a problem.
false positive - a test result that indicates there is a problem when, in fact, there is not a problem.
familial cancer - when there is a clustering of cancer cases in a family, but the features of hereditary cancer are not present.
first-degree relative - a relative with whom you share one-half of your genes - such as your parents, children, and siblings.
founder effect - when a particular gene mutation is present in a population at increased frequency because it was present in a small isolated group of “founders," ancestors who gave rise to most of the individuals in the present day population.
[return to top]
gene - a segment of DNA that produces a protein product; genes determine traits that are passed from one generation to the next.
genetic - determined by genes or chromosomes.
genetic counseling - providing an assessment of heritable risk factors and information to patients and their relatives concerning the consequences of a disorder, the chance of developing or transmitting it, how to cope with it, and ways in which it can be prevented, treated, and managed.
germline mutation - a DNA change present in the egg or sperm (germ cells) from which a person was conceived, and therefore usually present in all cells of the body.
[return to top]
hereditary cancer family - a family where multiple family members have the same or related cancers, often developing at a younger age than average, and showing a vertical pattern of inheritance. Hereditary cancer is due to a mutation in a cancer susceptibility gene that may or may not be identifiable with current technology.
Human Genome Project - A government-funded research and technology project to sequence and map (identify) all of the human genes (~35,000) on the 46 chromosomes.
[return to top]
indirect DNA studies - studies that look at markers around the gene in question rather than looking directly at the gene itself; also called "linkage studies."
inheritance - used to describe how a trait or gene is passed from one generation to the next.
inherited cancer syndrome - a description of the clinical symptoms associated with a mutation in a particular cancer susceptibility gene.
isolated - refers to an individual who is the only affected member of his/her family, either by chance or through a new (de novo) mutation.
[return to top]
[return to top]
karyotype - a picture of an individual’s 46 chromosomes, lined up into 23 pairs, showing the number, size, and shape of each chromosome type.
[return to top]
[return to top]
markers - known DNA sequences used to track a gene in a family.
meiosis - the cell division process that eggs and sperm go through which halves the chromosome number from 46 to 23.
Mendel - An Austrian monk who performed experiments on garden peas to understand inheritance patterns.
metabolism - a term used to describe how the body converts food to energy, and then gets rid of waste products.
microsatellites - repeated sequences of DNA present in everyone, of a set length.
microsatellite instability (MSI) - when microsatellites accumulate DNA errors in somatic cells, leading to a change in length (number of repeats).
mismatch-repair gene - a gene whose job is to correct naturally occurring “spelling” errors in DNA.
molecule - a chemical made of atoms, the basis for proteins and DNA.
molecular heterogeneity - when a disorder is caused by mutations in more than one gene, it is said to be molecularly heterogeneous.
multifactorial - an inheritance pattern involving both genetic and environmental factors.
mutations - a change in the usual DNA sequence of a particular gene that prevents the gene from working normally. Not all changes in genes are mutations. Some changes are beneficial, neutral, or normal variants (such as the changes that lead to different eye colors).
[return to top]
[return to top]
oncogene - a proto-oncogene that has been altered (mutated) such that it can promote tumor formation or cell growth.
[return to top]
pedigree - a diagram of a family tree indicating the family members and their relationship to the person with an inherited disorder.
penetrance - a characteristic of a genotype; it refers to the chance that a clinical condition will occur when a particular genotype is present.
polymorphism - a common gene alteration seen in a certain percentage of the population, that may not be associated with disease.
predictive genetic testing - determines the chances that a healthy individual with or without a family history of a certain disease might develop that disease.
preimplantation studies - used following in vitro fertilization to diagnose a genetic disease or condition in an embryo before it is implanted into the mother's uterus.
prenatal diagnosis - used to diagnose a genetic disease or condition in the developing fetus.
presymptomatic genetic testing - used to determine whether persons who have a family history of a disease, but no current symptoms, have the gene alteration associated with the disease.
protein - a molecule, made from amino acids, that performs activities in the cell for the body to function normally.
protein truncation studies - a way to look at gene products, rather than the gene itself; testing involves looking at the protein a gene makes to determine if it is shorter than normal.
proto-oncogene - a normal gene responsible for promoting regulated cell growth.
[return to top]
[return to top]
reduced penetrance – when a person has a mutation but does not show any signs of disease (since hemochromatosis has reduced penetrance, this can also occur in recessive conditions).
[return to top]
second-degree relative - a relative with whom you share one-fourth of your genes, such as your half-siblings, aunts, uncles, nieces, nephews, and grandparents.
sex chromosomes - the 23rd pair of human chromosomes which determine gender; females have two X chromosomes; males have one X and one Y chromosome.
sibling - brother or sister.
somatic mutation - a DNA change present in body cells other than the egg or sperm (germ cells).
sporadic cancer - term that is sometimes used to differentiate cancers occurring in people who do not have a mutation that confers increased susceptibility to cancer from cancers occurring in people who are known to carry a mutation. Cancer developing in people who do not carry a high-risk mutation is referred to as sporadic cancer. Sporadic is also sometimes used to describe cancer occurring in individuals without a family history of cancer.
syndrome - a collection of traits, symptoms, and/or abnormalities in an individual which usually has a single underlying cause.
[return to top]
third-degree relative - a relative with whom you share one-eighth of your genes such as your first cousins.
threshold - a term used to describe the level of liability genes and environmental triggers needed to cause expression of a multifactorial disorder; the level may differ between males and females.
tumor suppressor gene - a normal gene that controls the processes of cell growth and cell death.
[return to top]
[return to top]
variable expression - when a gene does not produce the same clinical features in all people; some people have milder or more severe symptoms than others.
[return to top]
[return to top]
X chromosome - One of the two sex chromosomes, X and Y.
X-linked inheritance - Pattern of inheritance associated with a mutation or alteration of a gene that lies on the X chromosome, one of the sex chromosomes. If the mutation is recessive, the condition is seen more commonly in males (who only have one X) than females. Often you see a pattern of unaffected females having affected sons and maternal uncles.
[return to top]
Y chromosome - One of the two sex chromosomes, X and Y.
[return to top]
[return to top]
|
Bone Marrow Transplant
Cancer Center
Cancer Programs
Health Information Home