Ask The Doc - Genetic Counseling

Tuesday, April 07, 2015

Question: My mom is a breast cancer survivor – should I have my genes tested?

By Amy Stoddart, MS, Certified Genetic Counselor, Columbia St. Mary’s

Great question. In April, we celebrate National Cancer Control month. And when it comes to controlling cancer, knowledge is the best weapon.

In terms of cancer and genetics, the two primary genes are BRCA1 and BRCA2. These are tumor suppressor genes and mutations in either can cause Hereditary Breast and Ovarian Cancer Syndrome (HBOC). People with this genetic mutation are more susceptible to developing a variety of cancers.

Women in the general population have about a 12 percent lifetime risk for breast cancer – that risk jumps to as high as 60-80 percent with the BRCA1 and BRCA2 mutations. For ovarian cancer, the risk jumps from 1.4 percent to upwards of 45 percent with BRCA1, and 20 percent with BRCA2.

But it’s not just women who are affected. Men with these mutations have an increased risk of breast cancer as well as pancreatic cancer, melanoma and early-onset prostate cancer. Men with the BRCA1 mutation have about a 5 percent chance of developing breast cancer, while the BRCA2 mutation increases that risk to 7 percent, compared to 0.1 percent for the general population. The BRCA2 mutation also increases the risk of prostate cancer from 15 percent up to 20-25 percent.

BRCA1 and 2 have also shown to increase lifetime risk for fallopian tube and peritoneal cancer (in women) and pancreatic cancer (in both women and men).

So, how do you know if you should get tested? The primary red flag is personal and/or family history. For the general population, a concerning personal or family history would include:

• A history of breast cancer under age 50
• A history of ovarian cancer at any age
• Three or more relatives of any age with breast cancer
• Three or more relatives with breast cancer, pancreatic cancer or prostate cancer
• Any male breast cancer
• Anyone of Ashkenazi Jewish decent (those from central or eastern Europe)

Family history of Ashkenazi Jewish descent is important for both men and women. The BRCA1 and BRCA2 mutations occur in far greater frequency in Ashkenazi Jews than the rest of the population, with approximately 1 in 40 individuals of Ashkenazi Jewish decent carrying a BRCA mutation.

Genetic testing for the BRCA1 and BRCA2 genes began in the early 1990s. And like anything that started in the early ‘90s, there have been many advancements made over the years.

Today, tests are cheaper, faster, performed by more laboratories and, most importantly, are able to test a greater number of genes. From a single blood or saliva sample, tests are now able to examine as many as 20 different genes. If you had genetic testing done in the past – and were negative for the BRCA1 or BRCA2 mutation – but have a concerning family history, it might make sense to get checked again with a newer, more advanced test.

A genetic counselor can help you decide if you should get tested – or retested – or not. The test itself is simple enough and results usually take a couple weeks to come back. However, it can be expensive, so during your appointment, the genetic counselor will assess if you meet the criteria for testing. Most insurance companies pay for genetic testing if your family meets criteria.

If you are found to have a BRCA mutation, there are several options available to help manage your risk, including increased surveillance and preventive medications, to more drastic options, such as surgical removal of the breasts, ovaries or fallopian tubes. Your genetic counselor will help you decide which course of action is best for you.

For more information on genetic testing and how to reduce your risk for breast and ovarian cancer, join us for “A Healthy Night Out: Reducing Your Risk for Inherited Cancers” on Thursday, April 23, 6-8 p.m., at the Mequon Nature Preserve (8200 W. County Line Rd.).

Enjoy healthy hors d’oeuvres, learn more about Columbia St. Mary’s genetic counseling, schedule your mammogram, tour Columbia St. Mary’s Mobile 3D Mammography Coach and much more! This event is free, but advanced registration is required. To register, call 414-963-WELL (9355).

Amy Stoddart is a Certified Genetic Counselor at Columbia St. Mary’s Cancer Center. For more information, please call 414-298-7265.

This article appeared in the April 7 issue of The Ozaukee News Graphic.


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