GLOSSARY

Abnormal: Not normal. Deviating from the usual structure, position, condition, or behavior. In referring to a growth, abnormal may mean that it is cancerous or premalignant (likely to become cancer).

Absolute risk: The chance of developing a specific disease over a specified time period

Allele: An allele is one of two or more forms of a gene that may occupy a given locus on the chromosome. Sometimes, different alleles can result in different traits, such as color. At other times, different alleles will have the same result in the expression of a gene.

Analysis: A psychology term for processes used to gain understanding of complex emotional or behavioural issues.

Antagonism: In chemotherapy, the production of smaller than expected additive effects; i.e., a situation in which combination drug therapy produces less of a therapeutic effect than would normally be predicted from the combined effect of the various drugs.

Antigens: A substance that the body recognizes as 'nonself' or 'foreign' and against which a specific immune response is mounted. Antibodies have a complementary chemical structure to a portion of an antigen and bind to the antigen, analogous to the manner in which a key fits into a lock.

Antigen receptor: Any of a group of proteins on the surface of lymphocytes that recognize foreign antigens and that is synthesized from gene fragments separated from each other in the germline but juxtaposed by gene arrangement in lymphocytes

Atypical: Not typical, not usual, not normal, abnormal. Atypical is often used to refer to the appearance of precancerous or cancerous cells.

Atypical hyperplasia: a condition of excessively proliferating cells with abnormal morphology

Benign: Not cancer. Not malignant. A benign tumor does not invade surrounding tissue or spread to other parts of the body. A benign tumor may grow but it stays put (in the same place).

Biopsy: The removal of a sample of tissue for purposes of diagnosis. (Many definitions of "biopsy" stipulate that the sample of tissue is removed for examination under a microscope. This may or may not be the case. The diagnosis may be achieved by other means such as by analysis of chromosomes or genes.)

BRCA1 gene: a breast cancer-susceptibility gene located on chromosome 17Q21; known to be mutated in families prone to a high incidence of early onset breast cancers and also ovarian cancers.

BRCA2 gene: 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.

Breast biopsy: A procedure in which a sample of a suspicious breast growth is removed and examined, usually for the presence of cancer. The sample is suctioned out through a needle or removed surgically.

Breast cancer: Breast cancer is a malignant (cancerous) growth that begins in the tissues of the breast. Cancer is a disease in which abnormal cells grow in an uncontrolled way. Breast cancer is diagnosed with self- and physician-examination of the breasts, mammography, ultrasound testing, and biopsy. There are many types of breast cancer that differ in their capability of spreading to other body tissues. Treatment of breast cancer depends on the type and location of the breast cancer, as well as the age and health of the patient. The American Cancer Society recommends that a woman should have a baseline mammogram between the ages of 35 and 40 years. Between 40 and 50 years of age mammograms are recommended every other year. After age 50 years, yearly mammograms are recommended.

Breast density: Glandular tissue in the breast common in younger women, making it difficult for mammography to detect breast cancer. Describes the relative amount of different tissues present in the breast. A dense breast has less fat than glandular and connective tissue. Mammogram films of breasts with higher density are harder to read and interpret than those of less dense breasts. Describes breast tissue that has many glands close together. Dense breasts may make masses difficult to detect by physical examination or mammography.

Breast lump: A localized swelling, knot, bump, bulge or protuberance in the breast. Breast lumps may appear in both sexes at all ages. In women, the fear is usually of breast cancer but many breast lumps turn out, fortunately, to be due to benign conditions that can be successfully treated such as infection, trauma, fibroadenoma, cyst, or fibrocystic condition of the breast.

Cancer: An abnormal growth of cells which tend to proliferate in an uncontrolled way and, in some cases, to metastasize (spread).

Cell: The basic structural and functional unit in people and all living things. Each cell is a small container of chemicals and water wrapped in a membrane.

Chemoprevention: Chemoprophylaxis refers to the administration of a medication for the purpose of preventing disease or infection. Chromosomes Units of DNA in the body's cells

CT scan: A special type of X-ray that provides a three-dimensional picture of the inside of the body. The initials stand for 'computerised tomography'

DNA: Deoxyribonucleic acid. One of two types of molecules that encode genetic information. (The other is RNA. In humans DNA is the genetic material; RNA is transcribed from it. In some other organisms, RNA is the genetic material and, in reverse fashion, the DNA is transcribed from it.)

Duct: A passage or a tube with well-defined walls suitable for the conveyance of air or liquids, as the bile duct and the pancreatic duct.

Ductal carcinoma in situ (DCIS): Ductal carcinoma in situ (DCIS) is the presence of abnormal cells inside a milk duct in the breast. DCIS is considered the earliest form of breast cancer. DCIS is non-invasive, meaning it hasn't spread out of the milk duct to invade other parts of the breast.

Estrogen: Estrogen is a female hormone produced by the ovaries. Estrogen deficiency can lead to osteoporosis.

Estrogen receptor: Refers to a group of receptors that are activated by the hormone 17β-estradiol (estrogen). Two types of estrogen receptor exist: ER, which is a member of the nuclear hormone family of intracellular receptors, and the estrogen G protein-coupled receptor GPR30 (GPER), which is a G protein-coupled receptor. The main function of the estrogen receptor is as a DNA-binding transcription factor that regulates gene expression. However, the estrogen receptor has additional functions independent of DNA binding.

Family history: The family structure and relationships within the family, including information about diseases in family members.

Gail model: A computer program that uses personal and family history to estimate a woman's chance of developing breast cancer.

In 1989, scientists from the National Cancer Institute and the National Surgical Adjuvant Breast and Bowel Project (?check) in the USA came up with a test to allow women to estimate their risk of developing breast cancer. It was based on a number of clinical factors such as a woman's:

• age
• family history
• medical history
• hormonal and menstrual history
• reproductive history
• lifestyle

The test was called the Gail test and it is still the most commonly used breast cancer risk assessment tool anywhere in the world.

How does the Gail test work? The test compares a woman's clinical factors with data gathered on over 280,000 women aged between 35 and 74. It then comes up with a score, based on a percentage likelihood of developing breast cancer compared with other women. In the Gail test you are given a 5 year and lifetime risk percentage score.

Gene: The basic biological unit of heredity. A segment of deoxyribonucleic acid (DNA) needed to contribute to a function.

Gene testing: Testing a sample of blood (or another fluid or tissue) for evidence of a gene. The evidence can be biochemical, chromosomal, or genetic. The aim is to learn whether a gene for a disease is present or absent.

Genetic: Having to do with genes and genetic information.

Genetic instability: the inability to prevent the gain, loss and rearrangement of genomic DNA during cell division; a common genetic alteration in cancer

Genetic markers: A gene or short sequence of DNA used to identify a chromosome or to locate other genes on a genetic map. It can be described as a variation (which may arise due to mutation or alteration in the genomic loci) that can be observed.

Genetic predisposition: an inherited genetic pattern that makes one susceptible to a certain disease. Having a genetic predisposition for a disease does not mean that you will get that disease, but your risk may be higher than that of the general population.

Genetic risk: The probability of an action or inaction having a negative impact on the genetic character of a population or species.

Genetic testing: Tests done for clinical genetic purposes. Genetic tests may be done for diverse purposes pertaining to clinical genetics, including the diagnosis of genetic disease in children and adults; the identification of future disease risks; the prediction of drug responses; and the detection of risks of disease to future children.

Genome: All of the genetic information, the entire genetic complement, all of the hereditary material possessed by an organism.

Genotype: the genetic constitution of an organism or virus, as distinguished from its appearance or phenotype; often used to refer to the acetic composition of one or a few genes of interest.

Heterogeneous disease: Completely different; incongruous Consisting of dissimilar elements or parts; composed of unrelated or unlike elements or parts; varied; miscellaneous

Hormone: A chemical substance produced in the body that controls and regulates the activity of certain cells or organs.

Hyperplasia: The enlargement of an organ or tissue caused by an increase in the reproduction rate of its cells, often as an initial stage in the development of cancer

Invasive: referring to cancer cells that have spread beyond normal boundaries.

Lifetime risk: This is the probability at the day of birth, that an individual will get a given disease sometime during his life time. Estimates of life-time risk include not only genetic factors but also environmental and life-style factors.

Lobe: Part of an organ that appears to be separate in some way from the rest. A lobe may be demarcated from the rest of the organ by a fissure (crack), sulcus (groove), connective tissue or simply by its shape. For example, there are the frontal, parietal, temporal, and occipital lobes of the brain.

Lobular Carcinoma in-situ (LCIS): Lobular carcinoma in situ (LCIS) is an uncommon condition in which abnormal cells form in the lobules or milk glands in the breast. LCIS isn't cancer. But being diagnosed with LCIS indicates that you have an increased risk of developing breast cancer.

LOCI: In the fields of genetics and genetic computation, a locus (plural loci) is the specific location of a gene or DNA sequence on a chromosome. A variant of the DNA sequence at a given locus is called an allele. The ordered list of loci known for a particular genome is called a genetic map. Gene mapping is the procession of determining the locus for a particular biological trait.

Logistic regression: logistic regression is used for prediction of the probability of occurrence of an event by fitting data to a logit function logistic curve. It is a generalized linear model used for binomial regression. Like many forms of regression analysis, it makes use of several predictor variables that may be either numerical or categorical. For example, the probability that a person has a heart attack within a specified time period might be predicted from knowledge of the person's age, sex and body mass index.

Lymph: An almost colourless fluid that travels through vessels called lymphatics in the lymphatic system and carries cells that help fight infection and disease.

Lymph node: Also sometimes referred to as lymph glands, lymph nodes are small rounded or bean-shaped masses of lymphatic tissue surrounded by a capsule of connective tissue. Lymph nodes are located in many places in the lymphatic system throughout the body. Lymph nodes filter the lymphatic fluid and store special cells that can trap cancer cells or bacteria that are travelling through the body in the lymph fluid. The lymph nodes are critical for the body's immune response and are principal sites where many immune reactions are initiated.

Malignant: Tending to be severe and become progressively worse. Having the properties of a malignancy that can invade and destroy nearby tissue and that may spread (metastasize) to other parts of the body.

Malignancy: A tumor that is malignant, that is cancerous, that can invade and destroy nearby tissue, and that may spread (metastasize) to other parts of the body.

Mammogram: An X-ray of the breast with the breast in a device that compresses and flattens it. There are two basic mammogram tests -- screening mammograms and diagnostic mammograms.

Menopause: The time in a woman's life when menstrual periods permanently stop; it is also called the "change of life." Menopause is the opposite of the menarche.

Menstrual: Pertaining to menstruation, as in last menstrual period, menstrual cramps, menstrual cycle, and premenstrual syndrome.

Meta analysis: In Meta analysis the term refers to the presence of multiple non-random intercepts in a dataset

Metastasis: The name for a cancer that spreads to another part of the body

Metastatic breast cancer: The name for breast cancer that has spread to another part of the body

MRI: Magnetic resonance imaging: the use of nuclear magnetic resonance of protons to produce proton density images Magnetic resonance imaging. A procedure in which radio waves and a powerful magnet linked to a computer is used to create detailed pictures of areas inside the body. These pictures can show the difference between normal and diseased tissue.

Mutation: A permanent change, a structural alteration, in the DNA or RNA. In humans and many other organisms, mutations occur in DNA. However, in retroviruses like HIV, mutations occur in RNA which is the genetic material of retroviruses.

Node: Literally a knot, a node is a collection of tissue. For example a lymph node, is a collection of lymphoid tissue. A nodule is a small node, a little collection of tissue.

Non-invasive cancers stay within the milk ducts or lobules in the breast. They do not grow into or invade normal tissues within or beyond the breast.

Oncology: The field of medicine devoted to cancer.

Pharmacologic: The science of drugs, including their composition, uses, and effects.

Post-menopause: The time after the last menstrual period

Pre-menopause: The time when ovaries are functioning normally with regular periods and no menopausal symptoms

Progesterone: A female hormone and the principal progestational hormone that is made mainly by the corpus luteum in the ovary and by the placenta. Progesterone prepares the lining (endometrium) of the uterus (the womb) to receive and sustain the fertilized egg and so permits pregnancy. Similarly refers to synthetic versions of the hormone.

Prognosis: The prognosis predicts the outcome of a disease and therefore the future for the patient.

Prophylactic treatment: Prophylactic therapy or treatment is the attempted remediation of a health problem, usually following a diagnosis. In the medical field, it is synonymous with the word "treatment". Treatment used to prevent a disease developing, rather than attempting to cure.

Protein: A large molecule composed of one or more chains of amino acids in a specific order determined by the base sequence of nucleotides in the DNA coding for the protein.

Radioactive: Emitting energy waves due to decaying atomic nuclei. Radioactive substances are used in medicine as tracers for diagnosis, and in treatment to kill cancerous cells.

Receptor: -a molecule that binds to, or responds to something else more mobile, with high specificity. Many receptors are membrane-bound, though others are free in the cytosol. Receptors are highly specific for certain ligands. Ligands include drugs, hormones, neurotransmitters, and growth factors.

Risk: The risk of developing a disease is usually described in terms of relative risk. Relative risk is calculated by dividing the frequency of mortality in a group exposed to a carcinogen by the frequency of mortality in an unexposed group.

Risk factor: An aspect of personal behavior or lifestyle, an environmental exposure, or an inborn or inherited characteristic. This, on the basis of epidemiologic evidence is known to be associated with health related condition(s) considered important to prevents. Risk of recurrence: In medical genetics, the chance that a genetic (inherited) disease presents in a family will recur in that family. The concept in general medicine means the chance that an illness we come back again.

RNA: ribonucleic acid. A nucleic acid, a universal component of all living cells that transmits genetic messages from DNA to the cell

Single nucleotide polymorphisms: A single-nucleotide polymorphism (SNP, pronounced snip) is a DNA sequence variation occurring when a single nucleotide -- A, T, C, or G -- in the genome (or other shared sequence) differs between members of a species or paired chromosomes in an individual.

Sporadic: Occurring upon occasion or in a scattered, isolated or seemingly random way.

Stage: As regards cancer, the extent of a cancer, especially whether the disease has spread from the original site to other parts of the body.

Staging: In regard to cancer, the process of doing examinations and tests to learn the extent of the cancer, especially whether it has metastasized (spread) from its original site to other parts of the body.

Supportive care: Treatment given to prevent, control, or relieve complications and side effects and to improve the patient's comfort and quality of life.

Tumor: An abnormal mass of tissue. Tumors are a classic sign of inflammation, and can be benign or malignant (cancerous). There are dozens of different types of tumors.

X-ray: A way of taking a picture of the body using electromagnetic radiation.