If you can read this, then your browser cannot interpret Javascript. To take full advantage of what this Web site has to offer, please make sure that you have Javascript enabled in your browser preferences, or update to a browser that supports Javascript. Thank you.

Learning More and
Taking Action

Understanding and Managing Your Risk

For Cancer Survivors

Tell Us Your Story

Organizations

Background Information

Glossary

“When someone with a family history of breast cancer has been tested and found to have an altered BRCA1 or BRCA2 gene, the family is said to have a 'known mutation.'”

— The National Human Genome Research Institute, National Institutes of Health

Tell a Friend | Sign Up for Updates | HBOC News | Site Map

Glossary

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z

Ashkenazi Jewish
The Eastern European Jewish population primarily from Germany, Poland, Lithuania, Ukraine, and Russia. Most Jewish people in the United States are of Ashkenazi descent. The Sephardic Jewish population, primarily from Spain, parts of France, Italy, and North Africa, is not Ashkenazi Jewish.

Ataxia-telangiectasia
Ataxia-telangiectasia is a rare inherited childhood disorder caused by mutations in the ATM gene. These mutations can prevent cells from repairing DNA damage, allowing genetic defects to amass and increasing the risk of cancer.

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.

Cowden Syndrome
Cowden syndrome is a rare disorder that causes noncancerous growths but also increases the risk of developing several cancers.

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

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.

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
An 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 (HIPAA), as well as state legislation in most states, guards the privacy of genetic information.

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.

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

Li-Fraumeni Syndrome
A rare condition, Li-Fraumeni syndrome significantly increases the risk of developing several types of cancer—including breast cancer—particularly in children and young people.

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.

Peutz-Jeghers Syndrome
Peutz-Jeghers syndrome causes growths in the gastrointestinal tract, and brings with it a significant risk of developing certain cancers, including ovarian and breast cancers.

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.

Hereditary Breast and Ovarian Cancer (HBOC) Syndrome: HBOC means living with a risk of up to 50% that breast cancer will occur by age 50 and a risk of up to 44% that ovarian cancer will occur by age 70. Learn more about HBOC.