Breast Cancer 101

A Guide to Breast Cancer by Susan G. Komen

Inherited Gene Mutations

Transcript

BRCA1 and BRCA2 mutations are the most well-known inherited gene mutations linked to breast cancer risk. But there are other inherited mutations that also increase the risk of developing breast cancer.

In the U.S., 5 to 10% of breast cancers in women are related to a known inherited gene mutation. And up to 40% of breast cancers in men may be related to BRCA2 inherited gene mutations alone. Women who have a BRCA1 or BRCA2 gene mutation have a greater than 55% risk of developing breast cancer in their lifetime. Compared to women in the general population who have a lifetime risk of 13%. This means in a group of 100 women with a BRCA1 or BRCA2 gene mutation, more than 55 will get breast cancer. And in a group of 100 women without these mutations, 13 will get breast cancer. Keep in mind, these numbers are averages. The risk of breast cancer for any one woman with a BRCA1 and 2 gene mutation may fall outside of this range. Everyone is different. Overall, BRCA1 and BRCA2 gene mutations are rare in the general population. In the U.S., there are an estimated 1 in 400 to 1 in 800 people with these mutations. Though people of all races and ethnicities can have a BRCA1 and 2 mutation, the rate is much higher for women and men of Ashkenazi Jewish descent, of which about 1 in 40 has these mutations. Women with BRCA1 mutations tend to get breast cancers that are estrogen receptor- negative, progesterone receptor-negative and HER2-negative. These cancers are known as triple negative breast cancer and may be more common among young Black women. Women with BRCA2 mutations tend to have breast cancers that are estrogen receptor- positive. Both BRCA1 and 2 mutations can increase the risk of a second primary breast cancer, which is a second breast tumor that’s not related to the first one. These tumors usually occur in the opposite breast of where the first cancer occurred. In the general population, about 1 in 1,000 men will get breast cancer in their lifetime. For men with a BRCA1 mutation, about 2 to 12 in 1,000 will get breast cancer in their lifetime and for men with a BRCA2 mutation, about 20 to 70 in 1,000 will be diagnosed with breast cancer. BRCA1 and BRCA2 mutations also increase the risk of ovarian cancer, pancreatic cancer and prostate cancer.

And BRCA2 mutations increase the risk of melanoma, which is a type of skin cancer. If you’re a woman with a BRCA1 or BRCA2 gene mutation, talk with your health care provider about screening recommendations as you may need to be screened for breast cancer earlier and more often than other women. You can also talk with your health care provider about your options to reduce your risk of breast cancer and other cancers. If you’re a man with a BRCA1 or BRCA2 mutation, you may need to be screened for breast cancer and other cancers. Talk with your health care provider to learn more. If you don’t know if you have an inherited gene mutation, a health care provider or genetic counselor can help you decide whether genetic testing is right for you and your family. To learn more, you can visit the Risk Factors section on komen.org.