Glossary

These are just two of about 20,000 genes inside of every cell in the body, and everybody has them. They are tumor suppressor genes, which means they play a role in controlling or preventing cancer.  A person who inherits certain mutations (changes), also known as pathogenic variants, in a BRCA gene has a higher risk of getting breast, ovarian, prostate, and pancreatic cancers.

A genetic change that is seen in many individuals in the general population and is not associated with increased risk of disease.

A term for diseases in which abnormal cells divide out of control and can invade nearby tissues. Cancer cells can also spread to other parts of the body through the blood and lymph systems.

Cancer risk evaluation involves meeting with a genetics specialist to estimate your personal risk for different cancers by reviewing your personal and family history of cancer, and sometimes undergoing genetic testing. Knowing about the presence of increased risk for cancer can provide important, sometimes life-saving options like increased cancer screening, preventative surgeries, and medications.

Part of a cell that contains genetic information. Except for sperm and eggs, all human cells contain 46 chromosomes.

A type of research study that tests how well new medical approaches work in people. These studies test new methods of screening, prevention, diagnosis, or treatment of a disease. Also called clinical study.

Defined as close blood relationship and refers to the genetic relationship between individuals who are descendants of at least one common ancestor.

Stands for deoxyribonucleic acid. It is a type of molecule that encodes genetic information. It is responsible for the development and function of a living being and allows for the passing of that genetic information from one generation to the next.

1. First-degree relatives are the parents, siblings, or children of an individual.
2. Second-degree relatives are the aunts, uncles, grandparents, grandchildren, nieces, nephews, or half-siblings.
3. Third-degree relatives are first-cousins, great-grandparents, and great-grandchildren.

The basic units of heredity that are found in specific locations on a chromosome. They are like the instruction manuals within all of the body’s cells and are made up of DNA, which act as letters that spell a chemical code to tell the body how to control its various functions. 

When a gene is not working properly, it is said to be altered or mutated. A gene mutation, also known as a variant, may disrupt normal body function. A pathogenic variant is a genetic change that increases an individual’s susceptibility or predisposition to a certain disease or disorder. Development of the disease is more likely but not certain, as with many BRCA mutations.

The process of helping people understand and adapt to the medical, psychological and familial implications of genetic factors of disease. Genetic counselors have advanced training in medical genetics and counseling to guide and support patients seeking information about how inherited diseases and conditions might affect them or their families, and to interpret genetic testing results.

Increased likelihood or chance of developing a particular disease due to the presence of one or more gene mutations and/or family history that indicates an increased risk of the disease.

A type of medical test that identifies changes in chromosomes or genes. The results of a genetic test can confirm or rule out a suspected genetic condition or help determine a person’s chance of developing or passing on a genetic disorder. A large variety of genetic tests are currently in use, and more are being developed as technology continues to advance. 

A gene change that occurs in every cell of the body and is passed on from parent to child is called a germline mutation. 

In medicine, the term ‘hereditary’ describes the passing of genetic information from parent to child through the genes in the sperm and egg cells. Thus, hereditary cancer is a disorder caused by mutations (changes) in certain genes passed from parents to children. 

A measure of the risk that a certain event will happen during a person’s lifetime. For example, a woman in the general population with no hereditary risk factors for breast cancer has a lifetime risk of developing breast cancer of about 12%. This means one out of every eight women in the general population will develop breast cancer during her lifetime.

An x-ray of the breast.

Magnetic resonance imaging (or MRI) is a procedure in which radio waves and a powerful magnet linked to a computer are used to create detailed pictures of areas inside the body. MRI makes better images of organs and soft tissue than other scanning techniques, such as computed tomography (CT) or x-ray. 

A substance that blocks an enzyme in cells called PARP, which stands for poly-ADP ribose polymerase. PARP helps repair DNA when it becomes damaged. DNA damage may be caused by many things, including exposure to UV light, radiation, certain anticancer drugs, or other substances in the environment. In cancer treatment, blocking PARP may help keep cancer cells from repairing their damaged DNA, causing them to die. PARP inhibitors are a type of targeted therapy. 

A diagram that shows relationships among family members. In medicine, a pedigree may also show the pattern of certain genes or diseases within a family.

An assessment of the risk of a specific condition based on the collective influence of many genetic variants.

A screening test that can be performed on embryos created via in vitro fertilization (IVF) to examine the embryos for a range of genetic conditions prior to transfer to the uterus.

Previvors are survivors of a predisposition to cancer who haven’t had the disease (for example: a carrier of a BRCA1 or BRCA2 mutation). The term is meant to convey how individuals with a predisposition to cancer have their own unique needs and concerns separate from the general population, but different from those already diagnosed with cancer. The term was coined twenty years ago by Sue Friedman, founder of the patient support and advocacy group, Facing Our Risk of Cancer Empowered (FORCE).

Surgery to reduce the risk of developing breast cancer by removing one or both breasts before disease develops. Also called preventive mastectomy.

Surgery intended to reduce the risk of ovarian cancer by removing the ovaries before disease develops. When the fallopian tubes are also removed, this surgery is called risk reducing salpingoophorectomy or RRSO.

Stands for ribonucleic acid and is one of two types of nucleic acid made by cells. It contains information that has been copied from DNA (the other type of nucleic acid). Cells make several different forms of ribonucleic acid, and each form has a specific job in the cell.

A DNA sequence variation that occurs when a single nucleotide (adenine, thymine, cytosine, or guanine) in the genome sequence is altered and the particular alteration is present in at least 1% of the population. Also called single nucleotide polymorphism.

A gene change that develops in cells other than egg and sperm cells at some time during a person’s life and are present only in certain cells, not in every cell of the body. Somatic mutations can be caused by environmental factors, such as UV radiation from the sun. Somatic mutation can be found in tissues at the time of surgery or biopsy.

In medicine, closely watching a patient’s condition but not treating it unless there are changes in test results. Surveillance is also used to find early signs of a disease, such as cancer, or to detect if a disease has come back. During surveillance, certain exams and tests are done on a regular schedule.

Describes breast cancer cells that do not have estrogen receptors, progesterone receptors, or large amounts of HER2/neu protein. Also called ER-negative PR-negative HER2/neu-negative breast cancer. 

Any change in the DNA sequence of a cell. Variants can be harmful, beneficial, or have no effect.

A change in a gene’s DNA sequence that has an unknown effect on a person’s health. There is usually not enough information about a variant of uncertain significance to know whether it increases a person’s risk of developing a disease, such as cancer. Also called unclassified variant, variant of unknown significance, and VUS.