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Who Should Undergo Genetic Testing for BRCA1 and BRCA2?

Trying to decide if one wants or would benefit from genetic testing of any kind is a very personal matter. Some people in fact become quite emotional about it. Without considering the cost factor, some people, like my mother, can never seem to have too much information. On the other end of the spectrum, some people view genetic testing as somehow tampering with God’s master plan. They do not believe we should try to control the mysteries of our genetic makeup. Still others just don’t want to know secrets of their DNA, for a variety of reasons. The majority of people are probably somewhere in the middle and are mostly confused by conflicting information, thoughts and emotions, so they do nothing or decide to wait and see.

This post will be an attempt to provide some very basic information intended to perhaps give some help in making this tough decision about BRCA gene mutation testing. I have gone through the testing process twice. Once as an observer with my mother and later testing positive for BRCA2  myself. For this particular post, I’m leaving my personal opinions out, easier said than done!

Once again, it is important to point to statistics in this matter. Ordinarily a woman’s risk of developing breast cancer in her lifetime is about 12%. However, for a woman with BRCA mutations, this risk jumps to an astonishing 50-85%. Similar spikes occur for ovarian cancer odds, the normal population risk being about 1.6% and someone with a BRCA1 mutation having perhaps up to a 55% lifetime risk. In addition, women with these mutations are at a higher risk for developing disease earlier in life and again some statistics show earlier onset of disease may result in more aggressive cancers. It’s also worth mentioning that in actuality only about 10% of breast cancers are caused by a mutated gene.

Sifting through all of this statistical data can be quite daunting. Simplistically stated, if it seems there are “too many” cancer cases in your family, it’s time to talk about it with your doctor and then you can decide how to procede.

When considering genetic testing for BRCA, you and your doctor will obviously take a close look at your family history. He or she will try to construct your family tree as accurately as possible and look for inherited patterns for cancer. The confusion comes when deciding how many cases indicate a pattern. Also, it should be pointed out that BRCA mutations are also passed on through men, so don’t neglect both sides of the family tree.

Generally speaking the greatest benefit for testing is for those who fall into the following categories:

For women with Jewish or Ashkenazic backgrounds

  • If you have any first degree relative, meaning a parent, sibling or child, diagnosed with breast or ovarian cancer and two second-degree relatives (aunts, uncles, grandparents, nieces, nephews, or half-siblings), this is a red flag.

For women not of the above mentioned background

  • Two first- degree relatives diagnosed with breast or ovarian cancer, one of whom was diagnosed before age 50.
  • Three or more first-degree or second-degree relatives diagnosed at any age.
  • A combo of first or second- degree relatives diagnosed with breast or ovarian cancer, one type of cancer per person.
  • A first-degree relative diagnosed with bilateral breast cancer (both breasts).
  • A combo of first or second-degree relatives diagnosed with ovarian cancer regardless of their ages.
  • A first or second-degree relative diagnosed with both breast and ovarian cancer, again regardless of their age at diagnosis.
  • A male relative with a breast cancer diagnosis.

If you find yourself falling into one of these categories, you may want to consider meeting with a genetic counselor just to learn more. If you want them to, they will then help you in figuring out who is the best living relative to be tested first and why. Generally, genetic testing information is most helpful when it starts with a family member who has had early breast cancer or ovarian cancer. Results of their test would help determine if you should be tested as well. However, if there is no living relative or if such a family member chooses not to be tested, you can go ahead and be tested yourself anyway.

The next hurdle is probably figuring out the cost and insurance coverage. For the initial family member to be tested, the cost is generally in the $3,000 range. For subsequent family member testing, it drops to around $400 because specific gene sequences can be analyzed; they aren’t starting from scratch, so to speak. Insurance coverage for both types is improving, but still varies greatly, so obviously the cost factor is hugely prohibitive for some. Don’t assume you are or are not covered. Find out for sure.

The next step is to ask yourself if you really want to know the information you will receive. Some people simply decide they do not want to know their potential risk, while others definitely do. There is no right or wrong here.

Also, decide what you intend to do with the information if you test positive.

  • Will you take proactive steps such as prophylactic mastectomy?
  • Will you feel better knowing you are at greater risk, but taking steps to perhaps prevent cancer?
  • Will you live in fear and paranoia, constantly worrying about cancer?
  • Will knowing affect your children or even affect your decision to have children?
  • Will your quality of life be altered?
  • Will relationships be affected?
  • Will you constantly live with feelings of guilt if found to be positive?

These are all serious questions to ask yourself before proceeding. It’s important to remember that testing positive does not mean you will get cancer.  Also, testing negative does not mean you will never get cancer.

Finally, take some time to think about your decision to go ahead with genetic testing or not. Just because you can know something, doesn’t mean you must or even should.  Don’t let anyone pressure you into testing, but don’t put your head in the sand either. Take charge of your health and body. Make the decision that is right for you.

Have you (or has someone you know) had genetic testing?

Or, what do you think are the main pros and cons of genetic testing?

 

 

Jean M Braam

Monday 24th of September 2018

My oldest sister was 39 when she was diagnosed with metastatic breast cancer. She was then tested and was found to be negative for the gene. 3 months to the day of her diagnosis, my other sister 37 was diagnosed with breast cancer. More than likely stage 2 but will be getting bilateral mastectomy next week. She was tested and results are pending. If she comes back negative also, do I need to be tested or can I assume I'm also negative? I'm so lost and confused!

Kathy

Tuesday 9th of May 2017

This is all very stressful to me. I texted my sister about estrogen that doesn't cause cancer, (lost my mother and 2 aunts to breast cancer) and she recommended I take the brca test. She did and it came back negative. Now I'm thinking I am bound to come back positive. My husband has been laid off for 2.5 years and I'm not sure if the insurance we have will cover the test and if I come back positive. all the surguries. This whole thing sucks. I'm 55 and looking at possible death and the financial ruin of my family.

Angelique

Thursday 22nd of October 2015

My grandmother died of ovarian cancer when she was 50. My Aunt had Breast cancer and tested positive for the BRCA gene. She immediately had a hysterectomy but her breast cancer returned and they treated her again. Now she has some other cancer that has developed in other areas.

My mother was tested for the gene and did not have it. My mother said since she didn't have it that I wouldn't have it. Is this true or do I need to be tested?

Cheri

Thursday 24th of September 2015

Just looking for some opinions & thoughts on this situation.....

My ex husband's sister was tested & has the BRCA gene mutation. She had breast cancer & then was tested. She lives in a country that removes all body parts that can be effected if you have either the 1 or 2 gene.

I wanted my husband (at the time) to get tested so we knew what could be in store for our children. He refused for 5 years, but finally decided to. He now has the results & refuses to find them out. He wants our daughter to go into a conference call to find out more information with a genetic counsellor, but refuses to let me sit in on the call. He just wants to wait until she is 19 years old & can decide for herself if she wants to remove her female parts or not.he doesn't want the results until then.

I am more about educating her, myself being involved (obviously!), and knowing the results - it may be a mute point if he is negative. I am her Mother, I have primary custody of the kids, I am the one that takes them to the Doctor - he is Disney Dad. He makes me feel like I am out of control & don't have a clue about what is going on.

Angelique

Thursday 22nd of October 2015

I don't know how old your daughter is but perhaps until she is an age that she can fully comprehend the concerns of having this gene you keep her educated on the general/ordinary facts of the organs that affect this disease. When she becomes at an age where talking about such a thing will not send her into fear, I would then discuss it with her. If at this time your husband has not released the results, then perhaps it would be best for her to discuss it directly with him. Then this becomes and issue between the two of them and not a battle of control between you and your ex. It seems senseless that your ex would be this way but it seems he is just using it against you for his own benefit. Good Luck.

Nancy

Sunday 27th of September 2015

Cheri, I am sorry to hear about the extra challenges your situation is creating. Perhaps your ex needs some time to process this more. You don't mention how old your daughter is. Hopefully you can keep the lines of communication open and keep the focus on what doing what is best for your daughter. Ultimately, your husband's decision about if and when he chooses to get his own results is up to him, but I agree that your daughter deserves to know. Good luck to all of you.

Michelle

Tuesday 18th of August 2015

My one brother has had colon cancer and breast cancer. He tested positive for brca1. Dr advised I get tested and did came back negative. Now another brother has been diagnosed with breast cancer and he tested positive for brca2. What do are the chances of insurance paying for another genetic test? I also can't find any info on what that does to my risks having both mutations in the family.

Nancy

Wednesday 19th of August 2015

Michelle, I would advise speaking with a genetic counselor with any questions you might have.

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