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Glossary of Terms

A step-by-step procedure for solving a mathematical problem and calculating estimates in a fixed number of steps. An algorithm frequently involves repeating the step-by-step procedure with the use of a computer. Algorithms can be used to calculate a person's estimated risk of a health condition based on certain factors or information about the person.
Variant forms of the same gene. Different alleles produce variations in inherited characteristics such as eye color or blood types.
Ashkenazi Jewish ancestry
Ashkenazic Jews are the Jews of France, Germany, and Eastern Europe and their descendants.

The removal of cells or tissues for examination to determine if the tissue is affected by a disease. The removed cells or tissues are usually examined by a pathologist, who determines the presence or extent of a disease by studying the cells or tissues under a microscope.
The pathologist may perform other tests on the removed cells or tissue. There are many different types of biopsy procedures. The most common types include:
  1. incisional biopsy, in which only a sample of tissue is removed
  2. excisional biopsy, in which an entire lump or suspicious area is removed
  3. needle biopsy, in which a sample of tissue or fluid is removed with a needle
BRCA mutation carrier
A person that has one BRCA gene that has a mutation and one BRCA gene that does not have a mutation. This means that a BRCA1 carrier has one mutated gene on chromosome 17 and one non-mutated gene; whereas a BRCA2 carrier has one mutated gene on chromosome 13 and one non-mutated gene.
BRCA1 stands for Breast Cancer One, a human gene that has been identified to be associated with an increased risk of hereditary breast cancer if the gene has certain mutations or changes. BRCA1 is located on chromosome 17 and normally helps to suppress cell growth. A person who inherits certain mutations (changes) in a BRCA1 gene has a higher risk of getting breast, ovarian, prostate, or other types of cancer.
BRCA2 stands for Breast Cancer Two, a human gene that has been identified to be associated with an increased risk of hereditary breast cancer if the gene has certain mutations or changes. BRCA2 is located on chromosome 13 and normally helps to suppress cell growth. A person who inherits certain mutations (changes) in a BRCA2 gene has a higher risk of getting breast, ovarian, prostate, or other types of cancer.
BRCAPRO probability model
A statistical model for assessing the probability that an individual carries a harmful mutation of the BRCA1 and/or BRCA2 genes. This model is based on family history of breast cancer and ovarian cancers, based on his or her family's history of breast cancer and ovarian cancer, including male breast cancer and bilateral synchronous and asynchronous diagnoses. BRCAPRO uses a Mendelian approach that assumes autosomal dominant inheritance, based on previous linkage and based on a systematic review of the literature.
Breast cancer
Cancer that forms in tissues of the breast, usually the ducts (tubes that carry milk to the nipple) and lobules (glands that make milk). It occurs in both men and women, although male breast cancer is rare.
Breast cancer surveillance
Screening for breast cancer on a more frequent basis than recommended for the average woman. Doctors recommend that some women get screening for breast cancer more often than most women if they have a higher-than-average risk of developing breast cancer. This is also called intensive screening.

Cancer is the term for a group of cells that displays uncontrolled growth (division beyond normal limits), invasion (intrusion on and destruction of adjacent tissues), and sometimes metastasis (spread to other locations in the body). Most cancers form a tumor (i.e., a lump or mass). However, some cancers, like leukemia, do not. Oncology is the branch of medicine concerned with the study, diagnosis, treatment, and prevention of cancer.
The use of drugs or other agents to prevent, delay, or reduce the risk of developing cancer by inhibiting the development or progression of malignant changes in cells. Chemoprevention is generally considered for persons identified as having a high risk of developing cancer.
Chromosomes are long pieces of DNA contained in the nucleus of cells. Genes are found on chromosomes, the part of a cell that contains genetic information. Chromosomes are composed of DNA (deoxyribonucleic acid) and proteins. Under a microscope, chromosomes look like little rods. Humans normally have 46 chromosomes—44 autosomes (nonsex chromosomes) plus XX sex chromosomes in the case of the female and XY sex chromosomes in the case of the male.

DNA (deoxyribonucleic acid) is the molecules inside the center (nucleus) of cells that carry genetic information and pass it from parents to children. DNA determines what characteristics a person inherits, such as blood type, hair color, and eye color. The parts of the body that carry DNA are called chromosomes. Each person's DNA contains many thousands of genes.

Family history
A record of a person's current and past medical conditions, and those of his or her parents, brothers, sisters, children, and other family members. Knowing a person's family history of medical conditions and diseases can help show a pattern of certain diseases that may be hereditary or genetic (meaning they run in the family). Knowing a person's family history also helps to determine risk factors for those and other diseases.

Each cell in the human body contains thousands of genes. Genes carry information that determines traits such as blood type, hair color, and eye color. Traits are characteristics a person inherits from their parents. Parents pass on characteristics to their children through genes. Genes also determine a person's risks of developing certain hereditary or genetic diseases.
Defective genes (or mutations) can also be inherited and they may cause changes in certain body processes or functions that lead to genetic diseases. Diseases that run in families are often caused by genetic defects. A person may be born with a genetic makeup that makes him or her have a higher risk (or be more susceptible) to developing a certain condition.
Gene sequencing
A combination of laboratory procedures used on a segment(s) of DNA to identify the nucleotide sequence.
Genetic counseling
A communication process between a specially trained health care provider and a person interested in understanding his or her genetic risk of developing a specific hereditary or genetic disease. The person's family and personal medical history may be discussed, and counseling may lead to genetic testing.
Genetic counselors
Professionals with specialized graduate degrees and experience in medical genetics and counseling. Genetic counselors work as members of a health care team and act as a patient advocate as well as a genetic resource to primary care physicians, other clinicians, and families.
Counselors assist in the identification of families at risk for birth defects, or a genetic condition, disorder, or syndrome. Additionally, counselors investigate the problems present in the family, interpret genetic information, analyze inheritance patterns and risks of recurrence, and review with families the available testing options.
Genetic testing
Tests that involve analyzing DNA to look for a genetic alteration that may indicate an increased risk for developing a specific disease or disorder.

Transmitted from parent to child by information contained in the genes.
Hereditary breast and ovarian cancer syndrome (HBOC)
Hereditary breast and ovarian cancer syndrome (HBOC) is an inherited tendency to develop breast, ovarian, and other cancers. Inherited conditions are passed to a person through blood relatives.

Intensive screening
This means getting screening tests for breast cancer more often than what is recommended for average risk women.

Lymphatic system
The tissues and organs, including the bone marrow, spleen, thymus, and lymph nodes, that produce and store cells that fight infection and disease. The channels that carry lymph fluid (the interstitial fluid found between the cells of the human body) are also part of this system.

Mammograms are x-ray images of the breast and are one important tool available to screen for breast cancer. Mammograms are used to diagnose, evaluate, and follow the health status of persons who have had breast cancer.
Surgery to remove the breast (or as much of the breast tissue as possible).
The smallest particle of a substance that has all of the physical and chemical properties of that substance. Molecules are made up of one or more atoms.
MRI (magnetic resonance imaging)
MRI is a procedure involving a machine that uses NO RADIATION to create detailed images of the body. These images help show the difference between normal tissues and tissues that are affected by a disease. Typically, MRI machines are large, tube-shaped magnets. When a person lies inside an MRI machine, the magnetic field temporarily aligns all the water molecules in the body. Radio waves cause these particles to produce very faint signals which are used to create cross-sectional images — like slices in a loaf of bread. The MRI machine then combines these slices into 3-D images.
Multifocal disease
Breast cancers with two or more centers (foci) of disease appearing in different areas of the same breast.
Mutation/gene mutation
A mutation occurs when a DNA gene is damaged or changed in such a way as to alter the genetic message carried by that gene. Some gene mutations can be passed from a parent to a child. Other mutations are not inherited and are caused by mistakes during cell division and growth or exposure to DNA-damaging agents in the environment.
Mutations can be harmful, beneficial, or have no effect at all. Examples of harmful mutations are those that may lead to increased risk of cancer or other diseases.
Mutation analysis Testing for a specific mutation within a gene, such as a deletion or insertion of a nucleotide.

Surgery to remove one or both ovaries (the almond-shaped organs on each side of a woman's uterus).
Ovarian cancer
Ovarian cancer is cancer that begins in a woman's ovaries.
Ovaries contain eggs and secrete the hormones that control a woman's reproductive cycle. Removing the ovaries greatly reduces the amount of the hormones estrogen and progesterone circulating in the body. This removal can halt or slow breast cancers that need these hormones to grow. Women with BRCA gene mutations usually also have their fallopian tubes removed at the same time because they have an increased risk of fallopian tube cancer as well.

In medicine, something that prevents or protects. One example is a prophylactic surgery to remove both breasts and breast tissue to reduce the risk of developing breast cancer. A second example is an oophorectomy, the removal of one or both ovaries.

Risk factor
Something that may increase a person's chance of developing a disease. There are four types of risk factors:
  1. behavioral—factors that a person can change (such as smoking, diet, exercise, or drinking alcohol)
  2. biological—factors based on physical characteristics (such as sex, race, or age)
  3. genetic—factors related to the genes a person inherits from parents
  4. environmental—factors found in surroundings (such as the sun, secondhand smoke, or where you live)
Environmental hazards (such as asbestos, pollution, radon, and pesticides) can also increase risk for some cancers.

Screening is an attempt to detect unsuspected disease such as cancers in persons before they show any symptoms of illness. Screening occurs for many types of cancer, including breast, prostate, lung, and colorectal cancer. If signs of cancer are found, more definitive and invasive follow-up tests are performed to confirm the diagnosis.
In some, but not all cases, screening can lead to earlier diagnosis in specific cases, and early diagnosis may lead to more successful treatment of the cancer and an extended life.
When referring to a medical test, sensitivity refers to the percentage of people who test positive for a specific disease among a group of people who have the disease. No test has 100% sensitivity because some people who have the disease will test negative for it (false negatives).
When referring to a medical test, specificity refers to the percentage of people who test negative for a specific disease among a group of people who do not have the disease. No test is 100% specific because some people who do not have the disease will test positive for it (false positive).

Triple Negative Breast Cancer
Triple-negative breast cancer is defined by a lack of expression of estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2/neu). Also called ER-negative PR-negative HER2/neu-negative and ER-PR-HER2/neu-negative.
A tumor is an abnormal growth of body tissue. Tumors can be cancerous (malignant) or noncancerous (benign). Cancerous tumors have uncontrolled growth and spread to other parts of the body. Noncancerous tumors do not grow or spread.
Tumor suppressor genes
Genes whose protein products are involved with the rate of cell division, cell death, and DNA repair processes. When these genes are mutated, cells can grow out of control, which can lead to the presence of various types of cancer.

USPSTF (U.S. Preventive Services Task Force)

The USPSTF is the leading independent panel of private-sector experts in prevention and primary care. It was first convened by the U.S. Public Health Service in 1984, and since 1998 has been sponsored by the Agency for Healthcare Research and Quality (AHRQ).

The USPSTF conducts rigorous, impartial assessments of the scientific evidence for the effectiveness of a broad range of clinical preventive services, including screening, counseling, and preventive medications. USPSTF recommendations are considered the "gold standard" for clinical preventive services.