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Glossary of Terms

Ashkenazi Jewish – Eastern European Jewish population primarily from Germany, Poland and Russia, as opposed to Sephardic Jewish population from Spain, Italy, Northern Africa and parts of France.

Benign – A spontaneous growth of tissue which forms an abnormal mass is called a tumor. A tumor that is noninvasive and noncancerous is referred to as a benign tumor.

BRCA1 and BRCA2 – BRCA1 and BRCA2 are the first two genes found to be linked to inherited forms of breast and ovarian cancer. Both genes normally act as tumor suppressors, meaning that they help regulate cell division. When these genes are rendered inactive due to mutation, uncontrolled cell growth results, leading to breast cancer. Men and women with mutations in either gene have a much higher risk for developing breast and certain other types of cancer than men and women without mutations in the genes.

Carrier - A carrier is an individual who carries and is capable of passing on a genetic mutation associated with a disease and may or may not display disease symptoms.

Chemoprevention
– The use of natural or laboratory-made substances, such as medications or vitamins, to reduce the risk of cancer.

Chromosomes – Long pieces of DNA found in the center (nucleus) of cells. DNA is the material that holds genes. It is considered the building block of the human body. Normally, each cell in the human body has 23 pairs of chromosomes (46 total chromosomes). Half come from the mother; the other half come from the father.

DNA (Deoxyribonucleic Acid) – DNA is the chemical name for the molecule that carries genetic instructions in all living things. The DNA molecule consists of two strands that wind around one another to form a shape known as a double helix. The main role of DNA molecules is the long-term storage of information. DNA allows for the transmission of genetic information from one generation to the next.

Disease-Causing Mutation – A gene alteration that causes or predisposes an individual to a specific disease.

DNA Sequencing – A method of evaluating the sequence of DNA which can be used to detect disease-causing mutations.

First-degree Relative – Your closest relatives, meaning your biological father, mother, child(ren) and full biological sibling(s).

Founder Effect – A gene mutation observed in high frequency in a specific population due to the presence of that same mutation in a single ancestor. Examples are specific BRCA mutations in the Ashkenazi-Jewish and Icelandic population.

Gene – The gene is the basic physical unit of inheritance. Genes are passed from parents to offspring and contain the information needed to specify traits. Genes are arranged, one after another, on structures called chromosomes. A chromosome contains a single, long DNA molecule, only a portion of which corresponds to a single gene. Humans have approximately 30,000 genes arranged on their chromosomes.

Genetic Counseling – Genetic counseling is a process in which a qualified professional shares information about genetic conditions. This information includes specifics about the condition in question, tests used to identify that condition, and help in understanding any laboratory test results. This helps parents, potential parents, and affected individuals make informed and educated decisions for themselves and their children.

Genetic Discrimination – Genetic discrimination is prejudice directed against people who have or may have a genetic disease. Genetic discrimination can involve being denied employment or health insurance. In a healthcare context, it can refer to people being treated based on their genetic status rather than by some more relevant criterion.

Genetic Information Nondiscrimination Act (GINA) – A federal law passed in 2008 designed to prohibit the improper use of genetic information in health insurance and employment. The Act prohibits group health plans and health insurers from denying coverage to a healthy individual or charging that person higher premiums based solely on a genetic predisposition to developing a disease in the future. The legislation also bars employers from using individuals' genetic information when making hiring, firing, job placement, or promotion decisions.

Genetic Predisposition – An increased risk of having a disease or other condition due to the genes you have inherited.

Genetic Testing – Genetic testing is the use of a laboratory test to look for genetic variations associated with a disease. The results of a genetic test can be used to confirm or rule out a suspected genetic disease or to determine the likelihood of a person passing on a mutation to their offspring. Genetic testing may be performed prenatally or after birth. Ideally, a person who undergoes a genetic test will discuss the meaning of the test and its results with a genetic counselor.

Hereditary – The passing of genetic traits from parents to their offspring.

Hereditary Mutation – Gene mutations can be either inherited from a parent or acquired. A hereditary mutation is a mistake that is present in the DNA of virtually all body cells.

Health Insurance Portability and Accountability Act of 1996 (HIPAA)
– The HIPAA Privacy Rule provides federal protections for personal health information held by covered entities and gives patients an array of rights with respect to that information. At the same time, the Privacy Rule is balanced so that it permits the disclosure of personal health information needed for patient care and other important purposes.

Informed Consent
– Permission by an individual to carry out specific medical tests or procedures with an understanding of the risks, benefits, limitations and potential implications of the procedure.

Inherited Genes – Genes passed down from your parents. Those genes determine everything about you including your gender, eye color, hair color and risk for having certain health conditions.

Malignancy – Cancerous cells that have the ability to spread, invade, and destroy tissue. Malignant cells tend to have fast, uncontrolled growth.

Metastasis – Metastasis is the movement or spreading of cancer cells from one organ or tissue to another. Cancer cells usually spread through the bloodstream or the lymph system.

Mutation –A mutation is a change in a DNA sequence. Inherited germ line mutations occur in the eggs and sperm and can be passed on to offspring, while somatic mutations occur in body cells and are not passed on.

Pedigree – A diagram of family relationships that uses symbols to represent people and lines to represent genetic relationships. These diagrams make it easier to visualize relationships within families and are often used to determine the mode of inheritance (dominant, recessive, etc.) of genetic diseases.

Pre-Symptomatic – Relating to the early stages of a disease before all symptoms have developed. At this stage accurate diagnosis is not possible.

Prophylactic (Preventive) Mastectomy – Surgery to remove one or both breasts before disease develops to reduce the risk of developing breast cancer.

Prophylactic (Preventive) Oophorectomy
– Surgery to remove the ovaries before disease develops to reduce the risk of developing ovarian cancer.

Selective Estrogen Receptor Modulator (SERM)
– Blocks the effects of estrogen in the breast tissue by sitting in the estrogen receptors in breast cells. If a SERM is in the estrogen receptor, there is no room for estrogen so it can't attach to the cell. If estrogen isn't attached to a breast cell, the cell doesn't receive estrogen's signals to grow and multiply. Examples of SERMs are Tamoxifen and raloxifene.

Sequencing Analysis
– A process for analyzing DNA to detect any disease-causing mutations.

Serum CA-125 – A blood test that can indicate an increased level of a substance called CA-125. If CA-125 is elevated, this may be a sign of ovarian cancer.

Sibling – One of two or more individuals having one common parent (brothers and sisters). Full siblings have the same biological mother and father. Half siblings share only one biological parent.

Sporadic Cancer
– Cancer which has no inherited cause.

Transvaginal (Endovaginal) Ultrasound
– A type of pelvic ultrasound used to look at a woman's reproductive organs, including the uterus, ovaries, cervix, and vagina. Transvaginal means across or through the vagina.

Tumor Suppressor Gene
– A type of gene that makes a protein which is responsible for cell division. The tumor suppressor protein plays a role in keeping cell division in check. When mutated, a tumor suppressor gene is unable to do its job, and as a result uncontrolled cell growth may occur. This may contribute to the development of a cancer.

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