GLOSSARY

A

Acquired mutation

These changes, or mutations, happen on their own. "Acquired" means you get them during your lifetime. You are not born with them. You can't inherit them from your parents or pass them down to your children. These mutations may lead to cancer. These types of mutations can also be called “somatic” mutations.

B

Biomarker

A molecule found in blood, body fluids, or tissues, which can show a normal or abnormal body function, or a condition or disease. It may be used to understand the body’s response to a treatment for a disease or condition.

Biomarker testing

Uses a sample of tissue, blood, or other body fluid to check for certain changes in genes or other molecules that may be a sign of a disease or condition, such as cancer. Biomarker testing can provide information about your risk of developing cancer or other diseases. Biomarker testing may include tumor DNA testing, genomic testing, and tumor profiling. The results of these tests can help your doctor find out how the cancer may grow and what treatments might be effective.

BRCA

BRCA1 and BRCA2 are genes that normally help prevent tumors from occurring by managing the DNA damage repair process. These are sometimes called tumor suppressor genes. BRCA stands for BReast CAncer gene, but BRCA gene mutations are also linked to certain other types of cancer, such as ovarian and prostate cancer.

BRCA mutation

A change or alteration found in a BRCA gene. A BRCA mutation can be inherited (germline), which means it was passed down from a parent, or acquired (somatic), which means the mutation developed during someone’s life and cannot be passed down through family members.

C

Chemotherapy

A treatment option your doctor may recommend. It is the use of chemicals to kill cancer cells in your body.

G

Gene

Genes are made up of segments of DNA inside each cell. Genes contain the information for making specific proteins for various biological processes, like expressing eye color or helping your body grow.

Genetic testing

This looks for changes, often called mutations or variants, in your DNA. Genetic testing can be used to look for inherited mutations, including inherited BRCA mutations. This can help you and your doctor better understand your cancer and how it may respond to different therapies.

Genetic counseling

This type of counseling can help people understand test results for inherited mutations and what may need to be done.

Genomic testing

Is a type of biomarker testing and may also be referred to as tumor DNA testing. This test can help identify mutations that may happen in a cancer cell. The results of this test may be used to help find out how the cancer may grow and what treatments would be most effective.

H

HRD (homologous recombination deficiency)

Having HRD means that your cells have an impaired ability to repair breaks in the structure of your DNA. HRD can be caused by different kinds of mutations, such as mutations in the BRCA gene, or other altered forms of gene expression. In ovarian cancer, your doctor may have you tested for HRD to inform treatment decisions. HRD tests can also detect if you have a BRCA mutation.

HR-positive (hormone receptor–positive)

Breast cancer cells that have receptors for the hormones estrogen and/or progesterone. These cells are hormone receptor–positive and they need estrogen or progesterone to grow.

I

Inherited mutation

Inherited or familial mutations are passed on from parents to children. These are also called germline mutations and are present in the DNA of every cell of anyone who inherits them.

P

PARP (poly [ADP-ribose] polymerase)

A protein that is involved in many functions in the cell, including repairing DNA damage.

PARPi (PARP inhibitor)

PARP helps repair DNA when it becomes damaged. A PARP inhibitor is a type of targeted therapy in cancer that stops the repair of damaged DNA, causing cancer cells to die.

T

TNBC (Triple-negative breast cancer)

TNBC means that the tumor cells don’t contain any estrogen, progesterone, or large amounts of HER2 receptors.

Tumor testing

Also called biomarker or genomic testing, or tumor profiling. Tumor testing can help find changes, or mutations, in your cancer that could help you and your doctor choose the right cancer treatment for you.