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BRCA1/BRCA2 Gene Mutations

BRCA Gene Mutations: Overview

According to the American Cancer Society, approximately 5-10 percent of breast cancer occurrences are hereditary. This means that about 10 percent of breast cancer cases are tied directly to a genetic defect, or genetic mutation, inherited from a parent.

The most common genetic defect linked to breast cancer is a mutation in the BRCA1 or BRCA2 genes. When functioning normally, these two genes actually aid in cancer prevention, as they code for proteins that prohibit cells from growing abnormally. If you inherit a defective BRCA1 or BRCA2 gene, you are at a higher risk of developing breast cancer over the course of your life.

Interestingly, BRCA1 mutations put you at a higher risk for developing breast cancer than do BRCA2 mutations. People with BRCA1 mutations have, on average, a 55-60 percent chance of developing breast cancer (as high as 80 percent in some women), while those with BRCA2 mutations have about a 45 percent chance. BRCA gene mutations are also thought to increase a person’s risk of developing other cancers, especially ovarian cancer.

BRCA mutations are more common in Jewish people of Ashkenazi (Eastern European) descent than in other racial and ethnic groups. Breast cancers due to BRCA mutations are more common in younger women and are more likely to affect both breasts than breast cancers that are not BRCA-related. Other gene mutations can lead to hereditary breast cancer too; however, these are considerably rarer. Moreover, they do not typically increase the risk for developing breast cancer as much as BRCA gene defects do.

Check out the breast cancer section of the American Cancer Society website for further information about the genetic risk factors for breast cancer, here:

BRCA Gene Mutations: Genetic Testing

“Genetics” is the scientific field that examines how characteristics such as hair color, height and predisposition to diseases are passed from one generation to the next via genes. Genes are pieces of DNA, the “blueprint” that guides how each living organism is made.

Genetic testing is relevant to breast cancer in that it is the method for detecting mutations in the BRCA1 and BRCA2 genes. There are certain situations in which genetic testing can be relevant and helpful, and others in which it is not recommended.

If you are considering genetic testing, consult a qualified healthcare professional (i.e., a genetic counselor, nurse or doctor) who can help you weigh the risks and benefits of testing, and eventually explain your results. It is important to keep in mind there is a significant cost associated with testing, and insurance coverage is not a given.

Check out the genetic testing section of the American Cancer Society website for further information, here:

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