Just took the BRCA1 & BRCA2 Genetic testing, now confused

This is more of a general post so I thought general would be better than medical; if mods think medical forum is better, please move.


Last month I went for my yearly mammogram. Since I turn 40 this year they sat me down to have the genetic counseling talk. I have a very BAD family history of cancer. My maternal grandmother- both Breast (34) and Ovarian Cancer (46), maternal aunt - Breast Cancer (42), fraternal aunt - Lymphoma (51) , fraternal aunt - Leukemia (?), fraternal grandfather - Brain Cancer (68). I have also had 2 lumps removed from my breasts - 1 non cancerous cyst (23) and 1 pre-cancerous fibroadenoma (35).

Now many Genetic testing centers are working directly with the insurance companies. With some of the changing healthcare laws genetic testing will now be covered IF you can show that your family history shows a possibility of genetic risk. So I filled out all of the paperwork. Let them take the cheek swabs, and walked away figuring that I would get my rejection letter in a couple of weeks. (They explained that it is hard to pass the selection process. She said that it often takes multiple attempts)

I got my approval letter yesterday. I was approved for the BRCA 1 & 2 for the common mutations and for a full mutation search on BRCA genes (evidently there are multiple gene mutations for different kinds of cancer), along with a list of Hema? (I assume this is related to blood cancers but I can't remember the word exactly and don't have my paperwork right now). Also, if any mutations come back positive I will be retested for drug reactions (this has to do with the treatment of cancers if you are dx).

A page later I finally get to my emotional roller-coaster.
Breast Cancer has always been a huge fear of mine. I was one of the women yelling the loudest as celebs were getting testing and being able to take steps toward prevention that were not available to me. Now I'm scared sh*&^ess! I know that this test does not guarantee you will or will not get cancer but it will change my odds from 27% (some fancy calculator they use with life factors, family history, etc) to either 10% or 60%. I always said if I could get the testing I wanted it and if positive I would gladly kiss the tatas goodbye. So why am I freaking out now, I don't even have results.

Sorry if this is rambling. I am just so confused and unsure of how I feel. I tried to talk to my wonderful husband and he was perfectly supportive, but he doesn't understand. I guess it's silly to even worry now but it just seems like things could be getting ready to change.

a reply to: Martin75

That it's a freaky thing is understandable.

My maternal grandmother had one of her breasts removed and was a survivor from a time when those things just didn't happen often, but she's the only one in the family so far to show signs of breast cancer. However, my mother had a hysterectomy because she had extreme early stage uterine, and my aunt just got done with radiation and chemo for throat cancer. So there is a history of cancer ... if not exactly breast cancer in my family.

On dad's side we have Alzhiemer's.

I guess on the bright side, I have migraines, and it's known that for some reason migraine tends to lower your breast cancer risk while raising your stroke risk for obvious reasons.

Then, there is my husband who is a complete unknown in most cases being adopted. We only know a little from a letter written by his biological grandmother.

The important thing to understand is that it's all still only a chance. None of it is guaranteed, so you have to raise the pros against the cons. Is the risk of surgery outweighed by the risk of the cancer you could get? In the end, it's all going to be your choice. In today's world, no one will think any less of you, no matter what you decide.

Because you are a woman, and in the back of your mind think the tata's are part of what makes you a woman. (Hell, it's in my head too.) That's the easy part.
You may not think your husband "gets it", but right now, for him, there is nothing actually wrong, so he has no worries.
I'm just assuming he is like mine. And he would act the same way, at the stage you are at.

Unfortunately, I know very well how my husband would react. I haven't been through it, but his mother has had a breast removed. He is still so supportive and protective of her, and it's been years. (I do realize it would be different, with someone your "intimate" with)

I don't know about you OP, but I know how I am, in a health scare regarding myself. I am my own worst enemy.
You have to remember: You have the choice to get the testing done. You will have time to make choices, when the tests come back.
And it sounds like you probably have a partner you can discuss all the choices with. Which really is a blessing.

Good luck and happy thoughts, whatever you choose.

a reply to: Martin75

The hand has already been dealt, so to speak, so regardless of the results, there are things you can do to minimize the risks.

A healthy diet and continual light exercise go a long way to extending your life and changing your risk.

Although the genetics are there, cancers are usually caused by mutations, which are from damage caused to cell genes. By reducing toxins (cigarettes, alcohol, salt, sugar, food additives & etc) and by generally improving our fitness we can greatly reduce the possibility that a cancerous cell will get through the defenses.

Also, unrelieved stress hormones are poisonous! A negative attitude will increase stress and cause all sorts of physical problems. Exercise helps put those hormones to good use and an awareness that you must consciously relax and enjoy yourself is healthy.

So don't think a statistical possibility is a sentence. Really live and enjoy your life and you WILL beat the numbers.

That's a perfectly natural thing to freak out about. I hope that you beat the odds.
Also, to make your husband better understand how you feel, have him imagine what it would be like if he had a possibility of getting testicular cancer, and having them removed. As a man, I can tell you that's one thing all men dread the possibility of.

I did some reading on the BRCA 1 and 2 genes but I also studied about four others and the info is a little mixed up in my head. I'll have to go back to the genetics site to remind me which one this was. I ran the gene app for my daughter on her DNA and it showed a heterozygous result, meaning she has one copy of some of the variants. I can't remember if this one has something to do with problems with estrogens or if it was something else. We have to go look for a new washer and dryer, they both have been acting up with multiple symptoms.

When I get back I will reread the genetics information from SNPedia and another site. If I remember right, this means that consuming foods continuously that stimulate estrogen production are not a good thing. There was a twist to one of these that stated that when going to menopause an unused hormone predecessor could build up and could cause a problem. I'll have to reread the interpretations.

a reply to: ketsuko

I had never heard that about migraines. My husband gets them. At least you have found a silver lining. Thank you for your support. For some reason that letter just sent my mind down the crazy train for a bit.

a reply to: chiefsmom

Thanks for that about the husband. Somehow seeing it typed out makes sense. You explained it perfectly.
As for the test, I am doing it to be proactive. Letting it rule my life will defeat that purpose. I have called back the crazy train for now..thanks to great support.

a reply to: chr0naut

Thank you for your post. I think it is exactly what I needed. I am doing this test to take a proactive stance in my health. Freaking out over what I can't control will not help me. I am taking the right steps but I have to walk the entire distance or why bother. Thank you.

a reply to: Skid Mark

I'm not sure if I am THAT attached to the tatas, lol but I will defiantly keep that in mind. Thank you

a reply to: rickymouse

Thanks you that would be awesome! I have tried searching online but most of the websites are so over my head. I would love to hear about the hormones, as I had a hysterectomy at 31 and have never been on hormones due to cancer risk.

originally posted by: Martin75
This is more of a general post so I thought general would be better than medical; if mods think medical forum is better, please move.


Last month I went for my yearly mammogram. Since I turn 40 this year they sat me down to have the genetic counseling talk. I have a very BAD family history of cancer. My maternal grandmother- both Breast (34) and Ovarian Cancer (46), maternal aunt - Breast Cancer (42), fraternal aunt - Lymphoma (51) , fraternal aunt - Leukemia (?), fraternal grandfather - Brain Cancer (68). I have also had 2 lumps removed from my breasts - 1 non cancerous cyst (23) and 1 pre-cancerous fibroadenoma (35).

Now many Genetic testing centers are working directly with the insurance companies. With some of the changing healthcare laws genetic testing will now be covered IF you can show that your family history shows a possibility of genetic risk. So I filled out all of the paperwork. Let them take the cheek swabs, and walked away figuring that I would get my rejection letter in a couple of weeks. (They explained that it is hard to pass the selection process. She said that it often takes multiple attempts)

I got my approval letter yesterday. I was approved for the BRCA 1 & 2 for the common mutations and for a full mutation search on BRCA genes (evidently there are multiple gene mutations for different kinds of cancer), along with a list of Hema? (I assume this is related to blood cancers but I can't remember the word exactly and don't have my paperwork right now). Also, if any mutations come back positive I will be retested for drug reactions (this has to do with the treatment of cancers if you are dx).

A page later I finally get to my emotional roller-coaster.
Breast Cancer has always been a huge fear of mine. I was one of the women yelling the loudest as celebs were getting testing and being able to take steps toward prevention that were not available to me. Now I'm scared sh*&^ess! I know that this test does not guarantee you will or will not get cancer but it will change my odds from 27% (some fancy calculator they use with life factors, family history, etc) to either 10% or 60%. I always said if I could get the testing I wanted it and if positive I would gladly kiss the tatas goodbye. So why am I freaking out now, I don't even have results.

Sorry if this is rambling. I am just so confused and unsure of how I feel. I tried to talk to my wonderful husband and he was perfectly supportive, but he doesn't understand. I guess it's silly to even worry now but it just seems like things could be getting ready to change.

I have a fear of breast cancer as well since my maternal grandmother and maternal aunt died from it. I've been told though that unless my mother and/or her sister have it, I have nothing to worry about. Yet I have extra tissue under my left armpit near the breast that needs checking frequently, plus I have fibro-cystic breast disease. I think as a woman, it's natural to be scared, or even cautious about breast cancer.

a reply to: Anyafaj
I have been told that 2nd degree relatives are almost as important as 1st degree. I am attaching a link to a "Risk" chart. As with anything, it's not perfect, but it gives you a great idea of how they look at Breast & Ovarian Cancer in regards to family.



CDC Breast & Ovarian Cancer Risk Chart

I guess that this gene is responsible for making a protein properly and if it messed up it makes a shorter RNA strand that doesn't work right. This makes it harder to regulate excessive growth. I don't think this could be fixed with diet, but there isn't any particular information on this process that I could find. It doesn't look like a deficiency can lead to this gene expression. I thought it was about the problems with estrogen but it is only remotes associated with estrogen. Estrogen actually does promote healing but can be problematic if out of proportion.

I've been busy the last few days, but I will try to find out more about this.

My daughter was green on both BRCA 1 and 2. No Heterozygous like I had mentioned. I was the one that has a few Hetero variants. There are more causes than the BRCA genes for this type of cancer though.