Health Watch: Genetic Mutations that Increase Risk for Breast Cancer

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There are some inherited genes that can mutate and put a woman at an increased risk for breast cancer. BRCA1 and BRCA2 (Breast Cancer genes 1 and 2) are the best-known genes linked to breast cancer risk. However, there are more than 70 others that can impact your risk.

SLUCare breast surgeon, Dr. Kaitlin Farrell says they can help determine if you’re a carrier in order to better assess your risk and potential options available for you.  “Patients that have many family members with breast cancer, particularly those diagnosed at a younger age, anyone in their family that has a male with breast cancer, or any patient that is under 16 years old with the classification of triple negative breast cancer..

Approximately 5 to 10 percent of breast cancers are thought to be hereditary, caused by abnormal genes passed from parent to child.

Estimates of risk are different for BRCA1 carriers and BRCA2 carriers. By age 70, the chance of developing breast cancer is:

1) 55-65 percent for BRCA1 carriers

2) About 45 percent for BRCA2 carriers

Dr. Farrell says, “having a mammogram and possibly an ultrasound on every year, as well as a breast MRI, and that’s to hopefully help in early detection if breast cancer were to actually happen.”

Dr. Farrell warns patients against using home genetic test kits to detect genetic risk.  “There are many variants in these genes that are known to place people at higher risk for breast cancer. But, they are not always the one in the kit.”

More than 500 researchers recently collaborated and discovered there are more than 70 genetic mutations that are associated with a higher risk of breast cancer, including mutations in the PALB2TP53PTEN, and the BRIP1 genes.

Women who’ve been screened and found to have a number of these genetic variants may benefit from more intensive screening, starting at a younger age, or using more sensitive screening techniques, allowing early detection and prevention of the disease. At the same time, this personalized information will also be useful to adapt screening modalities for women at substantially lower risk.

If you know you have a gene mutation linked to a higher risk of breast cancer, there are things you can do reduce your risk. There are many lifestyle choices you can make, including maintaining a healthy weight, exercising; limiting alcohol; or not smoking.

There are also more aggressive steps you can take to help reduce your risk, including:

1) a more aggressive screening plan starting at an earlier age;

2) hormonal therapy to block the effect of estrogen on breast tissue or reduce the amount of estrogen in the body;

3) removing the healthy breasts and/or ovaries

SLUCare offers in-person genetic testing to help you determine if you are at risk.  Click here for more information.

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