BRCA Genetic Testing: What to Know & Why Its Important

We teach how to identify if you are at risk for the BRCA genetic mutation. If you carry this “breast cancer gene mutation” you are at an increased risk for breast and other certain types of cancer.

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Questions for your Breast Surgeon and Medical Oncologist:

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.

Should I ask about BRCA testing before surgery?

You need to ask yourself this question, “If I have cancer and carry a BRCA mutation, would I change my mind about surgery and have both breasts removed to reduce my risk of having another new breast cancer in the future?” If the answer is yes or maybe, you should consider undergoing the testing before your recommended surgery. If the answer is no, you can undergo testing after surgery, if desired.

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


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.

[barbaraadams]

My mother and sister both had breast cancer. I had the BRCA test done in my 50's and found out that I am clear.

[lulube]

Knowledge is power! I was diagnosed with breast cancer, still waiting for my BRCA test results 💗

[allysonthomas]

So helpful. This doctor gives me a lot of power and peace about seeing a geneticist.

[HH-ryzn]

Dr. Williams, this is a well done review. Information is valid and you made it simple and comprehensive for the non-medical community.

[sueu]

I’m sorry to hear that., I was just diagnosed myself😢.Good luck with everything💕

[scottieshull]

I am 52 yoa. My risk assessment number from the cancer center was 58% based upon my own personal history, extremely dense breast tissue, still have a menstrual cycle and not in menopause. I have had multiple biopsies with ADH, Benign Hyperplasia and the microcalcifications that keep appearing in both breasts. I have been progressing since 2014 with the changes throughout each breast. We feel this is possibly related to the hormonal changes that are taking place in the body.
My mother had stage IV cancer two separate times and two separate cancers. I went through genetic counseling because I have multiple cancers of the same cancers on each side of my family. I was BRCA negative but have VUS mutation that they do not know enough about yet. My doctor ordered both the genetic testing and an MRI before ever cutting on me. I did have an allergic reaction to the MRI contrast dye, which left me with a headache for over three weeks that never abated even with tylenol. I was also very foggy and could not think clearly. While this is highly unusual, I knew that taking the monitoring route would not work for me.
I have 5 close relatives who had BC (3 on one side with 1 metastizing and passing from BC; 2 on other side) 3 of the family members were between 50-54 years old, one uterine cancer, strong history of multiple colon cancers, melanomas and many others that seem to keep passing down to each generation. After seeking out three opinions, my family and I have decided to proceed with prophylactic nipple sparing mastectomies and reconstruction. It was not an easy decision but one that was well thought out and researched over the last 10 months.
I appreciate your very informative videos. While I am nervous about the actual surgery, I can see that it will be the right decision for my little, active family as I was blessed to have a precious boy at 43 years of age. Thank you again for sharing your wisdom.

[raziabibi]

Thank you for a great advice
I been diagnosed with early stage dcis high grade breast cancer waiting to have surgery DONT know which one yet will find out on the 7 November 2023

[LisaRichards_]

It is upsetting to me that not even one doctor told me to get tested for this chain until I was almost 60.
Especially since I am a 99% Ashkenazi Jew, and had so many other risk factors for the gene.
I believe that it should be illegal For gynecologist and Mammogram imaging centers to NOT at least, hand a flyer or a brochure to patients about the gene and/or testing for it— from either their gynecologist—and CERTAINLY from their breast cancer mammogram center.
I will not go into my own personal story—any more than to say that I tested on DNA tests as being 99% Ashkenazi Jewish.
The other one percent was low probability that I was anything else. EVERY ONE of my doctors knew about this, and so did my mammogram center.
It makes me so angry that so many gynecologists and mammogram centers still do not offer any way to inform their patients about the BRCA test.
It could be as simple as simply handing a patient a flyer or a brochure, and the medical practitioners can get even these brochures for free from organizations.
Again, it should be illegal that this is not done
Studies have shown that if patients test positive for the BRCA gene, they are more likely to get tested on a regular basis, so the test saves lives.
They get tested earlier, and that saves lives.
For ANY gynecologist or mammogram center or imaging center that does mammograms not even offer that information to patients, by SIMPLY handing them a flyer about the BRCA gene when they leave their appointment, or Simply mailing it to their Patience is CRIMINAL
Gynecologists and mammogram imaging centers sure as HELL know how to get hold of you, when they want to get your money to pay them your co-pay.

[viviancosio]

Thank you so much . Recently diagnosed of invasive ductal carcinoma.
Thinking of bilateral mastectomy. Unsure which oncologist I will use . Need to meet with plastic surgeon. My lymph nodes are clear. Getting an MRI 11/4/24. The cut seems way too long and ugly .

[angieketcher]

I have a family history and my mother had the BRCA1 and I also tested positive for BRCA 1.

[angela]

When I told my parents I want to get the brca testing he says be careful what you ask for because it might cause issues in the future of them not wanting to treat you because they'll say oh you have the gene mutation we're not going to cover you he said like when people smoke they have to pay higher insurance. Is that something I have to be concerned with if I get this testing

[aseelalan]

It was a very helpful explanation 🌹🌹🌹🌹

[jasminetran]

I was diagnosed for breast cancer on 9/26/22 waiting on genetic test.

[cynthiauttimendoza]

I have Brca 1 i just dont think I'm going to have the surgery

[patriciaschuster]

I found I had it 10 years ago with stage 4 breast cancer.

[janinaschmaedeke]

I think patients not wanting to be tested, especially if it is preventative testing, as in they don't have cancer, but have family history etc, should be left alone. There is a push for people to do testing. The right to not know needs to be protected and promoted more

[claudiadinu]

First of all a big thank you. I just been diagnosed with DCIS, medium grade, I am 45 years old and 2 tumors in right breast, 6 mm distance from each other, small breast and has been offered lumpectomy followed by radiotherapy, history of breast cancer from my mom and not been qualified for Braca mutation test and aldo refused to have mastectomy as they already discussed in MDT me and decided by other dr. Is anythings I can do...?! Do I really don't qualify?

[glendsouza]

Can you have a brca mutation with no family history of brca mutations??

[ginahoover-vazquez]

i’m 55 just found out i carry braca gene and so do 2 my daughters at my age having 9 children where do i go from here with surgery

[annmariespielman]

How do you get breast cancer with no family of any form of cancer and both of my genetic test came back that I have no form of any cancer genes. The kaufman cancer center in bel air, md keeps telling me that I have breast cancer. I'm trying to understand how I got breast cancer.