BRCA faulty gene

Lavender,

I understand how overwhelmed you feel right now,I really do.

Please take a DEEP breath..

Your physical similarity to your Mom does not mean you will have a positive test result.

You have a 50/50 chance. I hope that you are seeing a Certified Genetics Counselor ..they are the best source for the most current information as well as being the best resource for interpreting what both a positive or negative test would mean for you ,personally.

Knowledge is power especially if you have a "plan" for how you will proceed IF your test is +.

a negative test result combined with your family history would mean that you must stay vigilant and continue screening as your GC and Doc recommend.

Gentle hugs,

Marcia

Hi Lavender!

No, it is not a pretty sure bet that you have a mutated BRCA gene!  Your doctor says it is concerning, and that means that you should follow up with him...I assume he's suggested genetic counselling?  Put that on the list of things that you're doing as prudent preventative health care screenings.  Most screening tests return negative results.  Remember that you have a proactive, vigilant medical team and that they will want you to consider and screen for possible risks you may face.  

As you read that Sloan-Kettering FAQ on genetic breast/ovarian cancer that Marie gave you (nice FAQ, Marie!), you'll see a couple of things:

90-95% of those cancers are not genetic. One in eight women will be affected w/ breast cancer in their lifetime.  While your mother & grandmother's cancers means a vigilant medical team (like yours) will want to look into a genetic risk, that doesn't necessarily mean that they had a mutated gene.

But lets assume that your grandmother had a mutated BRCA gene (But she may not have!  One in 70 women get ovarian cancer, and again, only 5-10% of those have a genetic component).  As Marcia pointed out, there's only a 50% chance your mother would have inherited a mutated BRCA gene from her mother (assuming your grandmother had a mutated BRCA gene).  Given the prevalence of BC (one in eight lifetime risk), your mother's cancer could be unrelated to your grandmother's cancer.  (That is, even if your Grandmother had a mutated BRCA gene, your mother's cancer doesn't mean that she inherited a mutated BRCA gene from her.  And if your mother didn't have a mutated BRCA gene, she can't have passed one on to you.   

But even if your mother did inherit a mutated BRCA gene, it doesn't mean that you inherited it from her.  Everyone has two copies of the BRCA gene, and your mother will only have passed one of hers onto you (you get your second one from your father), so there is only a 50% chance that any particular BRCA gene is passed on to any particular child.  So you could have a much, much, worse family history and still not have a mutated BRCA gene.

So if you've arranged to participate in genetic counselling (the first step to genetic testing) or whatever else he's suggested for you, then you've done what you can to address your doctor's reasonable concern.  You should let yourself be guided by his/her recommendations for how to address their expressed concern.  If you're not sure what that recommendation is, add that to your list of questions for your next visit with them!

HTH,

LisaAlissa 

Hi Lavender250,

You may find some information helpful on the main Breastcancer.org site:

• Genetics as a Risk Factor
• Genetic Testing
• BRCA1 and BRCA2 Testing

Hope this helps!

--The Mods

Lavender, you are hyping yourself out by reading statistics. The statistics are actually kind to people with family history, only a small percentage of cases in the grand scheme will be a genetic cancer. There is also a large chance that you don't have the gene and your mom and grandmother each having a womens cancer is coincidense. As for genetic breast cancer happening to younger women, I am a year younger then you and have no family history. Many if not most of the younger woman I meet on this site that are close to my age have non genetic cancer. Also like Lisa wrote even IF your mom and grandma were to carry the BRCA gene there is a good chance that you would not be a carrier. You are manipulating the statistics to feed your own fears, don't let you mind do that to you. 

I read your profile and you have two words that stood out about your lump that can be a good sign. Mobile and Painful. Most cancerous lumps (tho not all, that should be clear) are not painful and I don't believe they are ever mobile. So right there based just on symptoms you have a better then good odds that it is going to be B9. You also had a doc, a radiologist and a surgeon say that it is likely B9 but will biopsy to cover all bases. A biopsy is an excellent choice and I applaud you for taking a proactive approach.

The truth is that people our age get lumps and bumps all the time that will come and go with our menstrual cycles, the general rule of thumb is find a lump and observe it for 3 months. If it is getting bigger, chaging your skin, etc you get it looked at (if before 3 months you notice this go sooner by all means). Don't let yourself live in fear, it's a terrible place to be. I suggest you block all search engines and have your husband password protect them with a word you don't know. Reading scary stats and stories that you google aren't going to change what's in your breast now, you're only allowing them to keep you terrorized by your own fear.

Positive thoughts and prayers to you. Use this as an excuse to make your husband take you out somewhere, it will help to keep your mind off it.

My Mom and 5 of her siblings had cancer as well as all 3 of my siblings + nephew ..we are of Ashkenasi Jewish descent ( red flag!)
Mom (bilateral breast ..then mets) and I tested BRCA- In fact I tested 2 years before my stage 2B diagnosis..we don't seem to qualify for testing of other syndromes..
Go figure?! It is possible to test negative with multiple "red flags" in the family...I got BC anyway . Now 6+ years out!

Hugs
Marcia

Well, I have the BRCA 2 gene with no family history since I'm first generation.  Both my parents tested negative and they did a paternity test on me and my dad to be sure.  Not to mention, there are other genes out there aside from the BRCA 1 and 2.  They just haven't identified them yet.  That's why they take family history into account.  I'm met several ladies with no mutation who developed ovarian cancer and thought they were in the clear since they didn't have either mutation.  But the genetics people know there are more out there.

I find this topic very interesting. I also have a family history and have not been tested. Don't know if I could live with that bombshell since I'm terrified enough by this disease. The whole topic of genetic link fascinates me. They say 80% of women with BC have no family history. However, I do hear again and again of families that get it in droves, with or without the genetic mutation.

(Soccermomof4), I've never heard of that many people in one family having BC. I'm so sorry! Based on your stats it looks like you are doing okay. I hope so and same for your family members. I can't believe that many people can have it in one family and not be considered genetic. I guess this is something I can't figure out. Many people might test negative for this gene but there must be a hereditary component when entire families are getting the disease. Why are Ashkenazi Jewish women at higher risk? Has that ever been reported?

Moment of truth--- I really don't know how much good it does us to have this much info about the BRCA genes. It scares women and women with no history are still getting this disease. Since I'm only 30, my biggest worry is that the gene will mean that you get it younger. I don't know how many people on here are over 40 with that gene that have not had preventive treatment yet. This is one particular disease I would love to eradicate---cancer of all kinds.

Momnjackson,

Yes, the numbers regarding Ashkenazi and BRCA positivity are well documented. The Icelandic people's have a very high # as well as other ethnic groups that are/were easily studied.

Beep beep,

One must remember that years ago many cancers were "unknown" as such. Peoples death certificates and family "legends" of the deceased were often classified as "consumption" or some other vague cause of death. So what initially appears to be a small family history may upon further investigation be more extensive than originally thought,
As far as age.. Yes, one hallmark of a BRCA mutation is age of onset of disease.However, not everyone who tests + will get Cancer.. Additionally, there is a relationship to age and exactly where the fault occurs on the gene,

Warmly,

Marcia