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Empower Glossary*

Autosomal dominant inheritance – leads to a condition that happens when only one gene copy is not working properly. Your sex does not determine whether or not you have the condition.

Autosomal recessive inheritance – leads to a condition that happens when both gene copies are not working properly. Your sex does not determine whether you have the condition.

Benign / likely benign variant – a change in a gene that is not known or expected to affect the way a gene works. Genes contain many variants and most of them are benign. These variants are not listed on Empower genetic testing reports.

Breast awareness – part of breast cancer screening that involves paying attention to how your breasts usually look and feel. Being aware helps you to notice if they start to look or feel differently.

Carrier – a person with one non-working copy of a gene that causes an autosomal recessive condition. People with the autosomal recessive condition have both copies of the gene not working. People with one working and one non-working copy of the gene are called carriers of that condition.

Chromosome – a large piece of DNA that contains 100s to 1000s of genes. Chromosomes organize our genetic material and help us pass it on to our children. Most people have 46 chromosomes in 23 pairs. Chromosomes 1 through 22 are the same in all people. The last pair of chromosomes are labeled X or Y, and they help to determine a person’s sex.

Clonal hematopoiesis (CH) – happens when a pathogenic / likely pathogenic variant develops in a single blood cell. This single blood cell with the variant then copies itself. The copying process leads to mosaicism for the variant. CH usually happens due to age. It can also be due to having had cancer, chemotherapy, or radiation therapy. CH is sometimes referred to as CHIP.

DNA – the molecule inside each of our cells that makes up our genetic code. It contains all of the information we need to grow, develop, and function. DNA stands for deoxyribonucleic acid. DNA is made up of four bases that are labeled A, T, C, and G. The order of these letters is the genetic code and is sometimes called the “spelling” of a gene.

Gene – a piece of DNA that gives instructions for making a certain protein. When genes are not working properly, it can sometimes lead to genetic conditions. We have two copies of most of our genes, so most genes come in pairs. In general, every cell in your body contains a full set of all of your genes.

Genetic parent – a person who gave genetic material to a child through egg or sperm.

Gene of uncertain significance (GUS) – a gene that could cause an increased risk for cancer when it is not working properly, but not enough information is known. It is not known if a person with a variant in a GUS has an increased cancer risk. As scientists learn more about the gene, they can sometimes determine whether or not the gene increases cancer risk when it is not working properly.

Familial cancer – cancer that develops in a person who has a family history of cancer but does not have a known hereditary cancer condition. Family members can share many of the same genes and often share similar environments and lifestyles. Scientists think that familial cancer is caused by the way many genes work together and with the environment.

Hemizygous – a specific variant is present in the only copy of a gene. This can occur if one copy of a gene is deleted (missing) and the only remaining copy has the variant. It can also occur if the variant is located on the X chromosome of a person who has one X and one Y chromosome. Most males have one X and one Y chromosome, and most females have two X chromosomes.

Hereditary cancer – cancer that develops partly because of a pathogenic / likely pathogenic variant in a gene that someone was born with.

Hereditary cancer condition (or hereditary cancer syndrome) – a condition that increases someone's chance of developing one or more types of cancer in their lifetime, as compared to the average person. Hereditary cancer conditions are usually caused by having a pathogenic / likely pathogenic variant in certain genes. There are many genes that can cause hereditary cancer conditions.

Heterozygous – a specific variant is present in only one copy of a gene pair.

Homozygous – a specific variant is present in both copies of a gene pair.

In cis – refers to two or more variants that are on the same copy of a gene.

In trans – refers to variants that are on different copies of the same gene.

Medical management – a plan for medical care of a person or their health condition.

Mosaic – when one person has cells with two or more different genetic codes. In cancer genetics, mosaicism can happen when some cells have a variant and other cells do not.

Negative – no variants known to increase cancer risk were found in the gene(s) tested.

Pathogenic / likely pathogenic variant – a change in a gene that is known or expected to cause the gene to not work properly. Likely pathogenic variants have less evidence related to how they affect a gene, but they are very likely to make the gene not work properly. Therefore, likely pathogenic variants are treated the same as pathogenic variants.

Positive – at least one pathogenic / likely pathogenic variant was found.

Postzygotic mosaicism – happens when someone is born with a variant in some of their cells but not in others. A zygote is the single cell that is formed when an egg and a sperm come together. A zygote divides into two cells to start the process of forming an embryo, which leads to forming a fetus. If a variant is present in the zygote (first cell), it will be present in all of the cells that make the embryo, the fetus, and the baby that come from the zygote. Such a baby would not have mosaicism. If a variant develops in one cell any time after the zygote divides into two cells, the variant will only be in the cells that are created by the cell with the variant. The other cells that were already present when the variant developed will continue to divide to make new cells that do not have the variant. Postzygotic means that the variant developed after the zygote stage, which leads to mosaicism.

Reclassification – usually when a VUS or GUS is later determined to be benign / likely benign or pathogenic / likely pathogenic. The way benign, likely benign, pathogenic, and likely pathogenic variants are classified can also change. Reclassification happens when more information is discovered about the gene or variant.

Risk-reducing medication – a medication that can lower the chance of getting one or more specific cancers.

Sporadic cancer – cancer that seems to develop by chance but is usually due to many factors. These factors can include age, environment, and lifestyle. Most cancers are sporadic and are not hereditary.

Variant – a change in the spelling of the DNA of a gene. Some variants affect the way the gene works and other variants do not.

Variant of uncertain significance (VUS) – a change in a gene that there is limited information about. It is not known if a person with a VUS has an increased cancer risk. As scientists learn more about the specific gene and VUS, they can sometimes determine if the VUS increases cancer risk or not. If so, they will change the classification of the VUS to benign / likely benign or pathogenic / likely pathogenic.

X-linked inheritance – leads to conditions that happen when a gene on the X chromosome is not working properly. People who are assigned male at birth are more likely to have X-linked conditions than people who are assigned female at birth.

Zygosity – describes how many times a specific variant is present in a gene (hemizygous) or gene pair (heterozygous, homozygous). Common words used to describe zygosity in Empower reports are heterozygous, homozygous, and hemizygous. If your Empower report says the zygosity is mosaic, this means that the variant is present in some, but not all, cells.

*Some terms can have other meanings in different areas of genetics.