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What Are Genetic Breast Cancer Mutations?

Genetic breast cancer mutations are alterations in certain genes that increase the risk of developing breast cancer. These mutations can be inherited from a parent or occur spontaneously.

BRCA1 and BRCA2 are the two most well-known breast cancer genes. Mutations in these genes account for about 5-10% of all breast cancer cases. Women who carry a BRCA1 or BRCA2 mutation have a lifetime risk of developing breast cancer of up to 80%.

Other genes that have been linked to breast cancer include:

* TP53

* PTEN

* CHEK2

* ATM

* PALB2

Mutations in these genes are less common than BRCA1 and BRCA2 mutations, but they can still increase the risk of developing breast cancer.

Genetic testing can be used to identify women who carry a breast cancer gene mutation. This testing can be recommended for women who have a personal history of breast cancer, a family history of breast cancer, or certain other risk factors.

If you are found to carry a breast cancer gene mutation, you may be able to take steps to reduce your risk of developing breast cancer, such as:

* Regular screening: Women who carry a breast cancer gene mutation should start having regular mammograms and breast MRIs at a younger age than women who do not carry a mutation.

* Preventive surgery: Some women who carry a breast cancer gene mutation may choose to have a prophylactic mastectomy (removal of the breasts) or prophylactic oophorectomy (removal of the ovaries) to reduce their risk of developing breast cancer.

* Medications: Certain medications, such as tamoxifen and raloxifene, can help to reduce the risk of breast cancer in women who carry a BRCA1 or BRCA2 mutation.

If you are concerned about your risk of developing breast cancer, talk to your doctor about whether genetic testing is right for you.

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