Do homework before seeking genetic tests

Posted: Published on October 31st, 2013

This post was added by Dr Simmons

In the past few years, celebrities such as Christina Applegate and Angelina Jolie have brought to the surface the subject of genetic testing for breast cancer. After learning they carried the breast cancer gene, the women decided to have radical double mastectomies.

Both women have family histories of breast and ovarian cancers. Jolies mother died in 2007 from ovarian cancer. In 1978, Applegates mother was diagnosed with breast cancer. She survived and was able to help her daughter when Christina was diagnosed 30 years later.

Many women have close family members who have been diagnosed with breast or ovarian cancer, but few have the financial and community resources available that the celebrities do.

What are the options?

Various factors can direct a patients decisions to be tested. The genetic testing Jolie and Applegate had is available in Central Illinois, but to have the tests performed is not easy. Many questions will need to be answered by healthcare providers and the patient.

Why are you testing?

First, the patient will have to assess the need for the test.

What is really leading you to have testing? Daniel Groeppe, genetic counselor at the SIU School of Medicine may ask. Is there something about your family that youre concerned about or did you hear about it in the media? If it is the latter, then our conversation is mostly going to be about what are your chances you could even develop breast cancer based on a normal or a negative family history.

The first step is to develop a cancer family tree. All family members and all cancers should be recorded. The BRCA gene can be inherited through the father, warns SIU School of Medicine Director of Community Support, Cindy Davidsmeyer.

The BRCA1 and BRCA2 are the two genes related to breast cancer. People start off with a basic set of genes inherited from their parents. I like to think of them as instructions; kind of like the blue print, Groeppe said. If there are any changes in those instructions, we call it a mutation. When you have these mutations, then you have an increased risk for breast cancer and ovarian cancer.

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Do homework before seeking genetic tests

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