I found out I have BRCA1 AND BRCA2

Chilerojo

I just found out I have both, just like my dad. It seems unheard of and I don't really know what to do. I am male so I suppose that helps? It makes me really question having kids, I feel like I'd be dooming them to something.

Anyone else have both? I feel like I won the lottery! What odds?!

Moderators

Chilerojo-

We want to welcome you to our community here at BCO. We're sorry for what brings you here, but we hope you find the support and information you need.

We have some info on our main site that you might find interesting: http://www.breastcancer.org/symptoms/testing/genet.... Carrying one of the mutations can increase the odds of you passing it onto any children you have, by about 50%. Carrying both mutations would increase it more still, as BarredOwl pointed out. Have you discussed your options with a geneticist? It's a lot of information to process, and some tough decisions to consider. We wish you luck, and hope you use these boards to connect with people in your situation.

The Mods

BarredOwl

Hi Chilerojo:

Very sorry to hear that you have learned that you are both a BRCA1 and BRCA2 carrier. This does occur, but is quite rare.

Hopefully, you have received a referral to and/or met with a Genetic Counselor to learn more about the specific mutations you have, what may or may not be known about the risks they present, and the possible implications for your own health in terms of possible enhanced cancer screenings and possible risk reduction steps. If not, please seek a referral to a Genetic Counselor.

A Genetic Counselor should also be able to advise you about your questions about having children, the risk of passing one or both mutations on, and related questions.

Because your situation is rare, you may also wish to seek a second opinion from a second Genetic Counselor. I don't think it would be unwarranted. You will likely wish to remain in contact with a Genetic Counselor as new information becomes available and best practices for screening and risk reduction continue to evolve.

By the way, I am not sure that the 50% number provided above by the moderators is correct. I googled a bit and the presence of a BRCA1 mutation on one copy of chromosome 17 and a BRCA2 mutation on one copy of chromosome 13 seems to be called "double heterozygosity ("DH") for BRCA1 and BRCA2." One article I found seems to suggest that the risk is up to 75% with "DH":

"The main difference in counselling [sic] between carriers of a single mutation and people with DH lies in the risks for first degree relatives and other family members. These are confronted with a risk of carrying a mutation up to 75%. . . "

I believe that may be because the genes are on different chromosomes (17 and 13). So a child could theoretically receive from you: (a) neither mutation, (b) only the BRCA1 mutation, (c) only the BRCA2 mutation, or (d) both BRCA1 and BRCA2 mutations. That comes out to a 25% chance of no mutation, and a 75% chance of receiving one or both mutations from you. I am a only layperson, and I may be completely wrong, so I think that this is definitely a question on which you should seek the advice of a professional Genetic Counselor.

Here is link to the article I quoted above for information only. It is not a substitute for medical advice. It is also relatively old (published in 2005), and the numbers are not large because of the rarity of double heterozygosity:

http://jmg.bmj.com/content/42/3/e20.full

There are a variety of later studies, and these may alter/refine the incidence of double heterozygosity in different populations, the level of risk of disease from having two mutations (which may differ with different mutations carried by different groups), as well as other the observations, recommendations and conclusions in this 2005 paper. It would be ideal if you could find a Genetic Counselor who keeps current with these specialized cases and related research.

If you are near a large metropolitan area, you could look for an NCI-designated Cancer Center, with an established genetic counseling department.

http://www.cancer.gov/research/nci-role/cancer-cen...

BarredOwl

besa

A great source of information for anyone dealing with BRCA mutations is FORCE

www.facingourrisk.org

Moderators

First, we second that recommendation for FORCE. It is a very good resource indeed!

Second, would you be willing to share your story about genetic testing? (no pressure, only if you are inspired!)

We are interested in the following questions: What led you to doing the testing? What were your results, and what choices have you made based on the findings? Was payment an issue? How have you discussed these decisions with your family? What suggestions would you have for others?

Please share your story here, or send us a Private Message. We will be posting your stories here Community Members share their Stories, in order to inspire other visitors to our site who are in a similar situation. If you chose to submit your story, would you please send a photo with it?

Many, many thanks!

The Mods