BRCA Genetic Testing: Interview with Dr. Kevin Hughes

Breast Cancer School for Patients
Breast Cancer School for Patients
5 هزار بار بازدید - 5 سال پیش - We interview Dr Kevin Hughes,
We interview Dr Kevin Hughes, the world's leading expert about genetic testing and the BRCA mutation. Learn what you need to know about the "Breast Cancer Gene" and much more.

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Dr. Hughes is Co-Director of the Avon Comprehensive Breast Evaluation Center and Surgical Director of the Breast/Ovarian Cancer Risk Assessment Program Massachusetts General Hospital Boston. He has been the leading advocate in promoting genetic testing for cancer causing genetic mutations.

Questions for your doctors if recently diagnosed with breast cancer: (from the Breast Cancer School for Patients www.breastcancercourse.org)

1. Do I qualify for BRCA genetic testing?
2. If so, will you order genetic testing for me?
3. Would genetic testing before surgery change our plans?
4. What is the downside of BRCA testing?
5. Will you also order “Multi-Gene Panel”?
6. What is “The Breast Cancer Gene?”

The BRCA (Breast Cancer) gene is commonly referred to as “The Breast Cancer Gene.” If someone inherits a broken version of this gene (known as a “mutation”) at conception, they carry a significantly increased lifetime risk of breast cancer and ovarian cancer. This gene “mutation” can come from either their mother or father. Most breast cancers are not the result of BRCA mutations. In fact, it is estimated that BRCA and similar genetic mutations cause only 5 to 10% of all breast cancers.

If you are a woman and test “positive” for a BRCA mutation, your physicians can advise you how to reduce your risk of developing breast and ovarian cancer in the future. There are excellent prevention strategies to lessen your cancer risk. There are also enhanced screening options to detect cancers earlier when they are more curable. You must be your own advocate to find out if you are a candidate for genetic testing.

This is the condition that was widely reported in the media when celebrity Angelina Jolie announced that she had mastectomies and reconstruction of both her breasts to reduce her personal risk of developing breast cancer. Although she did not have breast cancer, she tested positive for the BRCA mutation. She underwent testing because she had a strong history of breast and ovarian cancer in her family.

Both men and women are at equal risk for carrying the BRCA mutation. Women are more commonly identified as “High Risk” for BRCA mutations because they may have been diagnosed with breast or ovarian cancer and are more often asked if they have a family history of these cancers. But it is important that men also learn if they are at high risk for cancer causing mutations and pursue genetic counseling. You may qualify for BRCA genetic testing if you have:

Below is a very simplified list of the most common qualifying risk factors.

*Breast cancer diagnosed at 50 or younger
*Ovarian cancer at any age
*A family member with a “BRCA mutation”
*A strong family history of breast, ovarian, prostate or pancreatic cancer
*Breast cancer in both breasts
*Male breast cancer at any age
*“Triple negative” breast cancer before age 60
*Ashkenazi Jewish ancestry and breast or pancreatic cancer

We list detailed references and links on our website, www.breastcancercourse.org to several national guidelines. Always obtain formal genetic counseling with a qualified physician or certified genetic counselor before undergoing BRCA and genetic testing..

Multi-Gene Panel Testing

Although the majority of “hereditary” breast cancer is likely due to the BRCA genes, other gene mutations could be present that also cause an increased risk for breast and other types of cancers. “Multi-Gene Panel Tests” evaluate multiple other cancer-causing genes at the same time as BRCA testing. We recommend considering “Panel Testing” be included with BRCA testing. There is usually no additional cost for adding this test to BRCA genetic screening.

What are the downsides to genetic testing?

It is important to note that if someone carries the BRCA mutation, that does not mean they will develop cancer. Genetic testing can open a “Pandora’s Box” of unanswerable questions. Everyone has a unique philosophy of life and belief system. Many decline genetic testing for personal reasons. Unfortunately, too many men and women at risk for genetic mutations are never offered genetic counselling. A recent study in the Journal of the American Medical Association found that many women with newly diagnosed breast cancer and at a high risk for genetic mutations are not offered genetic counseling.
5 سال پیش در تاریخ 1398/02/21 منتشر شده است.
5,076 بـار بازدید شده
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