BRCA-1

Due to the high risk of breast and ovarian cancer, most will recommend mastectomies and then ovary and tube removal as soon as child bearing is completed. This is the greatest risk reduction but is still not 100%. There is no consensus on how to follow patients with mutations regardless of cancer diagnosis or not. The NCI is currently doing clinical trials for patients with known mutations to try and answer this question. Here's a link: http://www.cancer.gov/cancertopics/factsheet/Risk/BRCA#a18

Tough question...
I have to say that the most difficult issue is wondering how many other family members have inherited this gene mutation.
I deal with all issues in my life in a positive way. I am a very positive person & I ALWAYS look for the funny & the good in life.
I try to enjoy every day & help others. I love my friends & my family.

A nice review of hereditary breast cancer is found in the textbook The Breast by Bland and Copeland. The chapter by Lynch, Marcus, Lynch Snyder and Rubenstein (chapter 21), reviews hereditary predisposition.

BRCA 1 and 2 account for the majority of inherited breast cancer. Other syndromes which include increased risk of breast cancer are:
Li-Fraumeni (p53)
Cowden's disease (pTEN)
Hereditary diffuse gastric cancer (CDH1)
CHEK 2
Peutz-Jeghers syndrome

Ataxia telangiectasia, Fanconi's anemia and Bloom's syndrome also confer increased risk.

You choice to have bilateral mastectomy has certainly reduced the likelihood of a new cancer in the same breast and vastly reduced the chance of a cancer in the opposite breast. Adjuvant chemotherapy (and hormonal therapy when indicated) has reduced your chance of recurrence. Oophorectomy has diminished your chance of ovarian cancer.

It would be glib to say "don't worry". I just read an article by a survivor of endometrial cancer who thinks about her cancer 24/7. Thinking about cancer will be inevitable for someone who has undergone treatment. I advise my patients to reverse their thought process, think about the cancer not coming back, rather than it coming back.

I strongly recommend regular exercise, which has been shown to reduce recurrence rates.

When a patient misses a followup appointment with me, it means they are not dwelling on their cancer, and are off doing other things, and that's good.

It is certainly not too late to be tested. BRCA 1 and 2 testing can be done on DNA extracted for a blood sample or from a buccal swab. NCCN guidelines for who should be offered testing were updated in April 2011. Generally if the guidelines are followed, insurance will cover the testing.

Myriad will provide testing kits to a doctor's office to facilitate the sample being sent in.

This is a very personal reply to a very difficult question. Again, not a doctor but going from my own personal experience with the test.

First of all, the genetics people tend to prefer to test someone who already has a cancer diagnosis. If their test is "clean" then a genetics counselor would probably advise against testing (unnecessary).

Having said that, in my own situation, I was dx'd with an invasive breast cancer in 2006. I was under 50 and my mom was a "survivor" who was also under 50 at dx (of her first BC).

I did counseling and BRCA testing because I had a cancer diagnosis. BOTH of my genes are mutated. They are of "unknown significance" and may be close to be classified as "non cancer causing." When my test came back with mutations, my mom was tested. HER test? NO mutations at all.

If you know there is a mutation in someone who had BC and you choose to have the test, I would suggest absolutely discussing with a genetic counselor. It's important you understand the ramifications of the test results and how they might cause emotional issues, if for example, you tested positive. This is a slippery slope. Some people prefer to NOT know and just continue the recommended screening for their situation. Others (me) need every detail.

Good luck to you.... I have a huge family cluster and no known mutation. My daughter is at a very high risk without the mutation. This is scary stuff.

AnneMarie

You will learn if you have a gene mutation on BRCA1 or 2. Just b/c you are negative does not mean you do not have some type of genetic predisposition for breast cancer, just means you do not have that specific mutation.
Check out my section on BRCA as its very informative
http://www.mybreastcanceranswers.com/brca/brca

Heather
www.mybreastcanceranswers.com

There are many foods, herbs, supplements & lifestyle choices that reduce the possibility of the BRCA-1 or 2 gene from being expressed. If you're in the NY/NJ area, on Saturday October 15th in Montclair NJ come attend this free symposium. I'll be speaking on some of those issues/recommendations. http://www.montclairbreastcenter.com/wellnessevents.htm

I made the decision after the blood was drawn but before I got the results. The results didn't matter to me, I know for a bunch of reasons, it was the right choice for me. My ovaries/tubes were removed when they did the exchange surgery on the reconstruction. Thing is, I knew I was done having kids.

Yes, knowledge is overwhelming which is why the BRCA testing is so hard to deal with. You are young. I do know statistically, they worry more about younger women and ovarian with BRCA 1. With BRCA 2 mutation, the ovarian seems to happen later. According to the head of genetics at Sloan Kettering who counseled me, the BRCA 2 is more late 40's or even 50. Of course, there are always the exceptions which is why it requires such careful thought and consideration.

I'm wondering if you explored the option of harvesting eggs. I don't know enough about this to do anything other than throw it out there. You don't need your ovaries to carry a child. When you are done exploring, talk to someone about all all the options and then just think about everything. Only you can decide. I hate that you are living with this... and this is exactly what troubled me. Knowing if I was "absolute" positive, what does my daughter do.... she was 21 when I was dx'd.

We can TALK when you get to NY!!!!

I think the first thing that must be said about BRCA testing is that I sat with a social worker who specialized in the potential emotion impact of the results of genetic testing. Even though I already had a cancer diagnosis, had I tested positive for the gene, I would now have my daughter with a burden over HER head. To test or not. And when? I had enough of a family cluster of disease from a fairly detailed pedigree. I made all my treatment choices before I even got the results.

When the test came back with mutations of unknown significance on BOTH BRCA1 and BRCA2 I was stunned. Immediately, my mom was tested and she tested completely clean. She was the one with the first breast cancer but NO mutations. I sat with the social worker and the head of genetics to review the results and what they meant. He explained how "a mutation starts somewhere" so I could have inherited from my dad or I could simply be the first person with that particular mutation.

I remember how weird it was to see the results because they were so detailed (stuff I do not remotely understand) but what struck me was the fact that they indicated the number of times they had previously seen the mutation and why they couldn't classify them as "cancer causing genes" ..... and they also couldn't classify them as harmless either. One of them was seen seven times before me. The other one, they never saw before. I was the first. Last year, my youngest sister was dx'd with DCIS right on her chest wall. She tested for the gene and she was clean on one but matched the other one..... obviously came from dad.

It's a little frustrating to have a test done and basically be told, it could be something, it could be nothing or because of the family cluster of disease, it could be a gene not yet identified. Because I had been counseled through all of these scenarios, I was okay with still having no answer.

I know that I will be notified once these genes are classified and hopefully, both of them will be harmless so my daughter is off the BRCA hook. Unfortunately, she is still a "previvor" because of my family cluster.

A bit confusing to answer, but then that's exactly what the results were.... they took an entire page filled with four paragraphs to say, "we don't know" .... Since I tend to be the wordy one, every once in a while it will cross my mind and I'll laugh. Sometimes, you just gotta laugh.

BrCa 1 is more often associated with estrogen and progesterone receptor protein NEGATIVE tumors and are also more often her-2-neu negative (triple negative) than tumors seen in sporadic (non hereditary) breast cancer. BrCa 2 tumors are more like sporadic breast cancers in their molecular signatures.

Myriad Genetics (http://www.myriad.com/) has had BRCA 1 and 2 testing available since 1996. Currently there are over 2000 variations in BRCA 1 and 2 genes that have been shown to be "deleterious" mutations, in that they are responsible for an increased risk in breast and ovarian cancer. New deleterious mutations are being discovered and confirmed with some regularity.

At this point, approximately 5% of mutations identified are labeled "mutations of undetermined significance" - this means that there is a gene abnormality, but there is not enough data to know if the mutation is a harmful one or not - realize that many gene mutations do not confer an increased risk. According to one of the researchers at Myriad, when they first started testing in 1996, "15 to 40% of the people getting tested had a variant of uncertain significance. That is now under 5%, because we have made enormous progress in our ability to study variants and figure out if they cause an increased risk for cancer. But there are still a lot of variants for which we need more information".

When you've watched every other woman in your family be diagnosed with and treated for breast cancer, you just know that your risk is not average or random. Despite that, it took a good deal of time and insistence on my part to convince my siblings to undergo testing with me. Ultimately, 5 out of 7 of us (including me) were confirmed to be BRCA2 carriers. We all respond differently. Some of my siblings just didn't want to know.

Great question. "Automatic" implies knee-jerk, and, as with most patient-related issues, the answer is "it depends." BRCA positivity confers a lifetime risk of ovarian cancer of 25-40%. Oophorectomy is the best prevention for ovarian cancer, therefore oophorectomy should be discussed with and offered to all female carriers of a deleterious mutation. The prevention is not absolute however, and primary peritoneal cancer can still occur after prophylactic oophorectomy. The issue really is timing. When to do the procedure? Questions need to be asked. How old is the patient? Have they completed their family? Do they plan to have more children?
I counsel my patients who are carriers of deleterious mutations to have prophylactic oophorectomy by age 40. In the meantime, I advise regular bimanual pelvic examinations, transvaginal ultrasound exams and CA125 levels.

The genetic counseling sessions I attended were very thorough and very helpful. We discussed and diagrammed out my family tree in great depth. There was a lot of discussion about that. Then the topic of genes/DNA was covered pretty well I'd say. I felt like I was in a crash course in a high school or college genetics class! There was a lot of time for discussion and questions. I was very pleased with the counseling opportunity and I would highly recommend seeing a genetic counselor if you are thinking about testing. While I did get the impression they were very pro-testing, they also respected my opinions and decisions about going through with testing or not. I'm not sure if you can even have genetic testing done without counseling first. It's a very important component.

I attended genetic counseling sessions with my mother, father and two siblings at Mayo Clinic in Rochester, MN. After those meetings, my mother decided to be tested and it turned out she was BRCA2 positive. She was already two years into her cancer, however, so her initial treatment had already ended. She found out too late actually in hind sight. Immediately after that, doctors there recommended that I get tested as well, although they didn't actually come out and say that...it's a very personal decision. Like I mentioned before, I thought I had a little more time to think things over, but cancer doesn't always follow "the plan."

I was thinking about having genetic testing after losing my mom to breast cancer. She was BRCA2 positive. I thought I had a bit more time to contemplate my decision. As it turned out, I did not. A short time after she died, I was diagnosed with breast cancer myself. After my diagnosis, there really was no other reasonable course of action other than going ahead with the testing. I needed tests results to determine my course of treatment. If I had not been diagnosed with breast cancer, I probably would still have decided to go ahead with the test. In addition to my mom, I also have three aunts who had breast cancer on my mom's side and one or two on my dad's side as well.

My mother was determined to be BRCA2 positive after her cancer diagnosis, so I knew I was at risk for being positive as well. While in the process of deciding if I wanted to be tested for the mutation, I was diagnosed with breast cancer myself. My oncologist highly recommended the test to determine my treatment path. This added a few weeks to the "waiting" time before my surgery, but knowing the outcome of the test was critical for determining my treatment plan. Of course, I did indeed also test postitive for the BRCA2 gene mutation. I also blog about BRCA at www.nancyspoint.com

According to the American society of Clinical Oncology testing is recommended if:

1. Women have more that two first-degree relatives with breast cancer or ovarian cancer, diagnosed at any age.

2. Those with more than three first-degree relatives diagnosed with breast cancer before the age of 50.

3. Those with two sister who have been diagnosed with breast or ovarian cancer before the age of 50.

4. Women who have a first-degree relative who has had two breast cancers, two ovarian cancers or or breast and ovarian cancer.

If you you questions about testing you can make an appointment with a genetic counselor and they can help you decide if testing is appropriate for you. I am a breast cancer survivor and when I asked a counselor if she thought I should be tested she told me that it would really not apply to me....most (80 - 85%) of breast cancers are "sporadic" meaning that they are not caused by these genes.

Your course of action and options first and foremost depend on whether you have been diagnosed with breast cancer or not. When you had the BRCA screening your physician or genetic counselor should have explained the implications of having a BRCA mutation. It's best to discuss this complicated question with a health professional so I'd advise you to set up an appointment with somebody who can explain BRCA mutation risks and recommended courses of action based on your situation.