On Your Health

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Inherited Breast Cancer Risk, Genetic Testing and Information on a Preventive Mastectomy

About one in eight women in the U.S. will develop invasive breast cancer in her lifetime, making it the second most common cancer among American women. Breast cancer awareness, preventive screenings and advances in medicine have helped reduce the rate of breast cancer in the U.S. since 2000.

In fact, research conducted in the last few years is shedding new light on the role family history and genetics play in a woman’s risk of developing breast cancer. New research on genetic mutations is changing the game for young women who are at a higher risk of developing breast cancer.

Inherited breast cancer risk

According to the American Cancer Society, approximately 12-14 percent of breast cancers can be linked to genetic mutations inherited from a person’s maternal or paternal family line. Everyone has the breast cancer gene, commonly referred to as BRCA. When functioning properly, BRCA genes repair cell damage and keep breast, ovarian and other cells growing normally.

However, mutations of the BRCA genes can significantly increase a woman’s risk of developing breast cancer. Mutations of the BRCA1 and BRCA2 genes are most common, although other germline mutations like TP53, PTEN, CDH1, PALB2, CHEK2, ATM, NBN and BARD1 are also associated with breast cancer.

On average, women who test positive for the BRCA1 mutation have a 55 to 65 percent chance of developing breast cancer in their lifetime. The BRCA2 mutation has a 45 percent lifetime risk.

Breast cancers linked to genetic mutations tend to develop in younger women, so it’s important for women to get tested earlier than in past years. Genetic testing is the only way to determine if you have inherited a mutation in your genes that causes breast cancer. Please note: genetic testing does not tell you if you have breast cancer; it just tells you if you are at increased risk for developing breast or other cancers.

Getting tested for gene mutations

Because BRCA gene mutations can drastically increase the risk of breast cancer, many women are getting tested early — in their 20s and 30s — for peace of mind. This type of testing is recommended for women with a strong family history of breast cancer on either the maternal or paternal side. For more information read this article about red flags that may indicate the need for genetic testing.

It’s also important to note that even if a woman has previously undergone genetic testing for BRCA1 and BRAC2 with negative results, she most likely got tested because of a very strong family history of breast cancer. When this is the case, experts like Jeneice Miller, Certified Nurse Practitioner and Advanced Genetics Nurse-Board Certified at the INTEGRIS Breast Surgery Clinic, recommend getting updated genetic testing for the other germline mutations known to increase the risk of breast cancer. 

The breast health services at INTEGRIS include a high risk and genetics clinic at the INTEGRIS Breast Surgery Clinic that offers risk assessment and genetic testing for gene mutations that determine a person’s likelihood of developing breast cancer based on his or her unique risk factors.

The cost of genetic testing varies widely depending on the facility and type of test. However, if you meet certain requirements that indicate hereditary cancer may run in your family, your health insurance company may cover the cost of genetic testing. To find out if you are at risk for inheriting breast cancer, take this quiz.

What is a preventive mastectomy?

If you test positive for gene mutations that cause breast cancer and have a very high risk for developing breast cancer, there are a few options to either reduce your risk of developing cancer or, if you do develop cancer, increase your chances of catching it early. These steps include increased surveillance, risk-reducing medication and preventive surgery.

The first option is to monitor your risk closely with regular doctor’s appointments, testing and screenings. While this doesn’t lower your risk of developing cancer, it does allow doctors to catch cancer early if it does develop.

Preventive medications, called chemoprevention, can reduce breast cancer risk in women at high risk of developing the disease. However, there are associated side effects and health risks, so it’s important to discuss this option with your doctor.

Another option is a preventive bilateral prophylactic mastectomy, a surgery that involves the removal of healthy breast tissue. A preventive mastectomy can include removal of as much breast tissue as possible while leaving the nipples intact, or it may require complete removal of both breasts.

A total mastectomy can reduce the risk of breast cancer by up to 95 percent in women who have a mutation of the BRCA1 or BRCA2 gene. If a total mastectomy is recommended, most women will have the option to consider reconstructive surgery.

What are the risks of a total mastectomy?

Like any major surgery, a preventive mastectomy comes with a risk of bleeding or infection. However, this surgery also has potential psychological and emotional risks.

A mastectomy is an irreversible removal of the breast and may cause anxiety, body image issues or concerns about one’s femininity. This surgery also causes loss of sensation in the breast tissue and nipples, which can affect intimacy for some women. While not all women experience these problems, it’s important to be aware of the potential impact a mastectomy can have on more than just your body.

If you are considering a preventive mastectomy, it’s important to discuss the recovery, reconstruction and risks with your doctor to ensure you are prepared for the road ahead. Discuss these risks with your partner or family to better equip them to be able to support you after surgery and throughout recovery.

If you have questions, contact the INTEGRIS Breast Surgery Clinic at 405-552-0400. INTEGRIS Breast Health Services are patient-centered, all-inclusive breast care facilities with staff dedicated to provide screening and diagnostic services along with consultation, education and treatment options.

A final note on prevention: get screened!

Because 90 percent of breast cancer cases can be successfully treated if detected early, INTEGRIS encourages women to get a mammogram each year if they are over 40. INTEGRIS uses the latest, most accurate, life-saving breast imaging technology. This means false positives are reduced and 40 percent more invasive cancers are found at earlier, more treatable stages. Schedule your mammogram now. Call 1-855-MY-MAMMO (1-855-696-2666), or talk with your doctor about how often you should receive a mammogram, based on family history, risk factors and age.