Breast Cancer

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Causes, Risk Factors, and Prevention TOPICS

Do we know what causes breast cancer?

Many risk factors can increase your chance of developing breast cancer, but it is not yet known exactly how some of these risk factors cause cells to become cancerous. Hormones seem to play a role in many cases of breast cancer, but just how this happens is not fully understood.

DNA is the chemical in each of our cells that makes up our genes—the instructions for how our cells function. We usually look like our parents because they are the source of our DNA. But DNA affects more than how we look.

Some genes control when our cells grow, divide into new cells, and die. Genes that speed up cell division are called oncogenes. Others that slow down cell division, or cause cells to die at the right time, are called tumor suppressor genes. Certain changes (mutations) in DNA that “turn on” oncogenes or “turn off” tumor suppressor genes can cause normal breast cells to become cancerous.

Inherited gene mutations

Certain inherited DNA mutations can dramatically increase the risk for developing certain cancers and are responsible for many of the cancers that run in some families. For example, the BRCA genes (BRCA1 and BRCA2) are tumor suppressor genes. A mutation in one of these genes can be inherited from a parent. When one of these genes are mutated, it no longer suppresses abnormal growth, and cancer is more likely to develop.

Women have already begun to benefit from advances in understanding the genetic basis of breast cancer. Genetic testing can identify some women who have inherited mutations in the BRCA1 or BRCA2 tumor suppressor genes (or less commonly in other genes such as PTEN or TP53). These women can then take steps to reduce their risk of developing breast cancers and to monitor changes in their breasts carefully to find cancer at an earlier, more treatable stage. (See “For women who are or may be at increased risk” in the section “Can breast cancer be prevented?”)

Mutations in tumor suppressor genes like the BRCA genes are considered “high-penetrance” because they often lead to cancer. Although many of the women with high-penetrance mutations develop cancer, most cases of cancer (including breast cancer) are not caused by this kind of mutation. More often, low-penetrance mutations or gene variations are a factor in cancer development. Each of these may have a small individual effect on cancer development, but the overall effect on the population can be large because they are common, and people often are affected with more than one at the same time. The genes involved may affect things like hormone levels, metabolism or other things that interact with risk factors for breast cancer. These genes may be responsible for much of the risk of breast cancer that runs in families.

Acquired gene mutations

Most DNA mutations related to breast cancer occur in single breast cells during a woman's life rather than having been inherited. These acquired mutations of oncogenes and/or tumor suppressor genes may result from other factors, like radiation or cancer-causing chemicals. But so far, the causes of most acquired mutations that could lead to breast cancer are still unknown. Most breast cancers have several acquired gene mutations.

Tests to spot acquired gene changes may help doctors more accurately predict the outlook for some women with breast cancer. For example, tests can identify women whose breast cancer cells have too many copies of the HER2 oncogene. These cancers tend to be more aggressive. At the same time, drugs have been developed that specifically target these cancers and improve outcomes for patients.

For more information about how genes can affect cancer risk and treatment, see our document Genes and Cancer.


Last Medical Review: 09/25/2014
Last Revised: 12/01/2014