Glossary

Ashkenazi Jewish
The Eastern European Jewish population primarily from Germany, Poland, Lithuania, Ukraine, and Russia, as opposed to the Sephardic Jewish population primarily from Spain, parts of France, Italy, and North Africa. The majority of Jewish people in the United States are of Ashkenazi descent.

Benign
A benign growth or benign tumor is not malignant (cancerous) and cannot spread to other parts of the body. Benign growths are almost always less dangerous than malignant ones.

BRCA1 and BRCA2
The BRCA1 (BReast CAncer 1) and BRCA2 (BReast CAncer 2) genes normally help to control cell growth. Mutations in either gene significantly increase a person's risk of developing both breast and ovarian cancer. In addition to having a higher risk of developing breast and ovarian cancer, women with mutations in either BRCA1 or BRCA2 may develop the disease at a much earlier age.

Chemoprevention
The use of drugs, vitamins, or other substances to try to reduce the risk of cancer.

Chromosomes
The part of a cell that contains genetic information. People have 23 pairs of chromosomes, 46 in all: 44 autosomes and two sex chromosomes. Each parent contributes one chromosome to each pair, so children get half of their chromosomes from their mothers and half from their fathers.

DNA (Deoxyribonucleic Acid)
The DNA molecule encodes the genes responsible for your form and function. DNA allows for transmission of genetic information from one generation to the next.

Disease-Causing Mutation
A change or alteration that occurs in the DNA. These mutations can put you at risk for certain diseases.

DNA Sequencing
Determining the exact order of the base pairs in a segment of DNA. Sequencing can be used to detect disease-causing mutations.

First-degree Relative
Your biological mother, biological father, full biological sibling, or biological child. Stepparents, stepchildren, or half siblings are not first-degree relatives.

Gene
A segment of DNA that contains the instructions to make a specific protein (or part of a protein). Genes are contained on chromosomes. Chromosomes, and the genes on those chromosomes, are passed on from parent to child. Errors in the DNA that make up a gene, also called mutations, can lead to diseases.

Genetic Counseling
A short-term educational counseling process for people and families who have or are at risk for a genetic disease. Genetic counseling provides patients with information about their condition and helps them make informed decisions.

Genetic Discrimination
Prejudicial treatment of a person or a person's family solely because of real or perceived differences in their heritage, including an inherited risk for disease. Genetic discrimination is illegal. The Federal Health Insurance Portability and Accountability Act of 1996, as well as state legislation in most states, guards the privacy of genetic information. In May 2008, the Genetic Information Nondiscrimination Act (GINA) was signed into law and will add to the protections that are in place on both the federal and state levels.

Genetic Information Nondiscrimination Act (GINA)
The Genetic Information Nondiscrimination Act of 2008, also referred to as GINA, is a federal law that protects Americans from being treated unfairly because of differences in their DNA that may affect their health. The law prevents discrimination from health insurers and employers. The President signed the act into federal law on May 21, 2008. The parts of the law relating to health insurers will take affect by May 2009, and those relating to employers will take affect by November 2009.

Genetic Predisposition
Having a greater than average risk of developing a disease because of inherited gene mutations.

Genetic Testing
A laboratory test used to determine whether a person has a disease-causing mutation in her or his DNA.

Hereditary
Physical traits or predispositions passed down from parent to child via information contained in the genes.

Hereditary Mutation
A gene change in reproductive cells (egg or sperm) that becomes incorporated into the DNA of every cell in the body of offspring; hereditary mutations are passed on from parents to offspring. Also called germline mutation.

HIPAA
The Health Insurance Portability and Accountability Act (HIPAA), enacted by Congress in 1996, required the Department of Health and Human Services to establish national standards for electronic healthcare transactions and national identifiers for providers, health plans, and employers. In addition, HIPAA also contains provisions that address the security and privacy of health data and information.

Informed Consent
Permission given to proceed with a specific test or procedure, with an understanding of the risks, benefits, limitations, and potential implications of the procedure itself and its results.

Inherit
Acquiring a trait from one's parents. Traits such as eye color or hair color are inherited from a parent through genes.

Malignancy
A mass of quickly dividing cells that has become malignant (cancerous). A malignancy has the ability to spread into neighboring tissues or other parts of the body.

Metastasis
The spread of cancer from one part of the body to another.

Mutation
Any alteration in a gene from its usual sequence of DNA. The alterations may be disease-causing or just a normal variation that causes no harm.

Pedigree
A medical drawing that includes all of a person's close relatives, the relationship between family members, and health information. A pedigree is used by doctors to analyze a family for genetic diseases.

Pre-Symptomatic
The stage prior to the onset of symptoms related to a specific disease.

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

Prophylactic (Preventive) Oophorectomy
Surgery to reduce the risk of ovarian cancer by removing the ovaries before disease develops.

Selective Estrogen Receptor Modulator (SERM)
A drug that acts like estrogen on some tissues but blocks the effect of estrogen on other tissues. Tamoxifen and raloxifene are SERMs.

Sequencing Analysis
The process of determining the order of the bases in a region of DNA. Sequencing analysis can be used to detect disease-causing mutations.

Serum CA-125
A blood test that looks for increased levels of a substance called CA-125, which may be a sign of ovarian cancer.

Sibling
A person who shares the same mother or father. A brother or sister who shares both parents is called a full sibling. A brother or sister who only shares one parent is called a half sibling.

Sporadic Cancer
Cancer occurring in people with no family history and no inherited cause.

Transvaginal (Endovaginal) Ultrasound
High-resolution images of the uterus and ovaries; may be used to screen for endometrial or ovarian cancer.

Tumor Suppressor Gene
A protective gene that normally limits the growth of tumors. When a tumor suppressor gene is mutated, it may fail to keep a cancer from growing.