Testing for Breast Cancer Gene

[momma_boo]

Has anyone ever done this or know about it?

I just went for my annual check up with the gyn. Now that I'm done having babies, this is my "next" project. Due to family history - mom had it 2x, her sister has had it and her mom (my grandmother) has had colon cancer, I would like to get tested.

The doctor gave me a genetic specialist to see but also suggested that I bring my mom so we can both be counseled and apparently, my mom should get tested first to see if she has any mutations, if she's negative, then there is no need to test me. If she is positive, they would then test me for that mutation.

Is that how it normally works? It just seems like it would be hassle to do it together with my mom - figuring out her insurance and also the effort of having to somehow translate everything into Korean seems daunting.

[heytootsy]

I went to a specialist, but have yet to be tested. Our family history has way more cancer than it should. My cousin is now going through treatment for stage 4 breast cancer. The reason they want to test your Mom first is because if there is a gene mutation, she would have it since she had cancer. If they tested you first, they really would not know what to look for since it is not a given that you even have a mutation. They test for one at a time, the BRCA1 and 2, which is the most comon, are usually the first to be tested, followed by some more rare genes. They usually like to test a surviving family member who has had cancer first to better pinpoint which gene it is they are looking for. Does that make sense?

[momma_boo]

Yes, that does make sense. I think that is how the doctor explained it to me as well.

I think a part of me also just feels bad about having to involved my mom in this - I feel guilty b/c it might make her worried that she passed something on to me but I guess I'm way ahead of myself.

[tina-t]

Hi Esther, I agree with the pp. They have to know which gene to look for first and your mom, since she had the breast cancer would be the first one to be tested.

Maybe, if you explain to her what is going on, it might clear some confusion, and not make her feel like she did something wrong.

[mik8]

I've discussed this with DH (molecular geneticist) before and hope I recalled this correctly. I guess the idea of bringing in your mom is to get information BOTH from you and her. There are 2 causes of breast cancer: familial predisposition vs. sporadic. The BRCA1 and BRCA2 genes, if I'm not mistaken (have to confirm this), are involved with the predisposition to familial tendency.

Keep in mind that every person has 2 copies of each chromosome and therefore 2 copies of each gene, one from the father and the other from the mother.

If your mom is negative for the mutated gene (resposible for predisposition to familial tendency), then you will also be negative for the inherited mutated gene. If your mom is positive, then you will either be:

1.) Positive (if the mom is a homozygote i.e., carrying 2 mutated copies of the BRCA1 and BRCA2 genes) or,

2.) You'll have 1 in 4 chance of having the mutation (i.e. your mom is a heterozygote carrying 1 copy of the gene).

If your mom is not mutated for BRCA1, BRCA2, or whatever other genes they might test, then presumably she is mutated for one of the more rare known or unknown mutated genes pertinent to sporadic breast ca.

In other words, by testing you both, they can "they can kill 2 birds with one stone" but only if your mom turns out negative because then they can rule you out.

Am I making sense?

[momma_boo]

Yes, it does make sense. I made a mental image of a "mendel's square" and all my biology knowledge came back to me (bio minor in college).

Thanks to all those who replied.
Now I'll just need to figure out if this genetic specialist is on my mom's network.

Does anyone know if this is at all covered by insurance?