Director of UAB Genetic Counseling Program discusses BRCA gene

(CBS42)
(CBS42)

[lin_video src=http://eplayer.clipsyndicate.com/embed/player.js?aspect_ratio=16x9&auto_next=1&auto_start=0&div_id=videoplayer-1368569595&height=480&page_count=5&pf_id=9624&show_title=1&va_id=4057037&width=640&windows=2 service=syndicaster width=640 height=480 div_id=videoplayer-1368569595 type=script]BIRMINGHAM, Ala. (WIAT) – The BRCA gene is a part of all human DNA.

However, it becomes a problem when those genes mutate and stop functioning.

Lynn Holt, the director of the UAB Genetic Counseling Program sees the impact BRCA mutations can have on families every single day.

“Those genes are generally in the family for multiple generations,” Holt said on Tuesday. “They’re not environmental things that you can do that would cause spontaneous mutations. That’s why family history is so important to identify families that might be at risk to having genetic mutations.”

The most efficient way to determine your risk level for the mutated gene is through genetic testing.

“Based on that result, whether someone is positive or negative, we then determine if they do have these high risks, like Angelina Jolie does,” Holt said.

The testing is not recommended for everyone, though.

“Only about 5 to 10 percent of breast cancer is inherited from the BRCA genes,” says Holt.

It usually takes about a week to get the results.

If it comes back positive, people have access to increased screening, surveillance and other types of treatment options.

Doctors say the next step is really up to the individual.

“Obviously, for a 20-year-old, we wouldn’t recommend the same thing that we would recommend or talk about with a 40 or 50-year-old,” Holt stated.

Patients who want to lower their risks dramatically can opt for surgeries such as mastectomies and the removal of ovaries.

Other options include yearly breast MRI’s, additional mammograms and chemotherapy prevention.

Copyright 2013 WIAT-TV CBS 42

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