(Closed) BRCA 1 Gene Mutation

posted 5 years ago in Emotional
Post # 3
Member
9551 posts
Buzzing Beekeeper
  • Wedding: August 2013

First of all, I’m sorry to hear this but glad to hear that your family is being proactive. I hope that your Future Mother-In-Law met with a genetic counselor to discuss this in depth – if not tell her to ask her doc for a referral. Your fiance would also benefit from an appointment with a genetic counselor as he has a 50% chance to have the same mutation. IF he has the same mutation as his mother, his risk for breast cancer is still low since men have such little breast tissue, but he would have a 50% chance to pass it on to each of his children and daughters would be at a significantly increased risk for breast and ovarian cancer.

It sounds like your FMILgot good advice about the preventive surgeries. Getting the ovaries removed is the most important since ovarian cancer screening really sucks. Breast cancer screening is much better so some women keep their beasts and have really intense screening. But mastectomy is also a good option. No surgery is fun, but the benefits definately outweight the risks.

If you need to find a genetic counselor in your area, I’m happy to help, just PM me.

Post # 5
Member
9551 posts
Buzzing Beekeeper
  • Wedding: August 2013

@MLDoddie:  increased risks for other cancers, like prostate or melanoma, is a bit controversial. Especially with prostate cancer, because it’s already so very very common. But, most of those are an issue with BRCA2, not so much with BRCA1. But the genetic counselor should go over this in depth.

Has your Future Mother-In-Law told your fiance about her genetic test results? If so then I definately think it’s appropriate for you to discuss this with him. Use lots of open ended questions, so that you can hear what he’s thinking. You coudl start with “So did your mom talk to you about that breast cancer stuff?” “Did that freak you out?” “Did she talk about anything you needed to do?”

People have very different reactions to learning about these types of risks. And it’s different for guys vs girls. The most common concerns for men are usually for their daughters, sisters and nieces.

Post # 7
Member
632 posts
Busy bee
  • Wedding: July 2013

If I recall from my genetics class, BRCA is an autosomal gene (meaning it is on regular chromosomes, not sex chromosomes). This means that sons and daughters inherit the gene with the same frequency and chance. On top of that, it is a dominant gene – so if you have one copy of it you’re risk for cancer is increased.

So I’m going to denote B as the BRCA gene and b as the non mutated version of the gene.

I’m going to assume your FI’s mother is a heterozygous (has one mutated copy of the gene, and one non-mutated copy) so we’ll denote her as Bb. Future Father-In-Law probably isn’t a carrier of the gene – so his genotype would be bb

if we take Bb x bb we get (this is a punnet square – please let me know if you don’t understand how it’s set up.)

 

      B          b

b   Bb         bb

 

b   Bb         bb

 

I’ve bolded the children that are going to have the mutated BRCA gene – so your Fiance has a 50% chance of having the mutation.

Let’s say he does have the mutation in the form of Bb, but you don’t have it (bb) then you two have a 1/2 chance in having children with BRCA1 mutation.

 

If this makes no sense, please let me know. I’m not sure of your biology background, so I can try and explain it more simply if needed.

Post # 9
Member
632 posts
Busy bee
  • Wedding: July 2013

@MLDoddie:  Correct. That’s under the assumption that his father isn’t positive for the gene and that you also are not positive for the gene.

 

The only way your children have the 50% risk is if he is a carrier for the gene. If he ends up being bb and you are also bb, then your children will not have the gene.

 

If it’s a concern for you, I’d recommend getting him tested and perhaps you as well since you have a cancer history in your family. But, even if one or both of you are positive, it’s not serious enough to not have children.

Post # 11
Member
9551 posts
Buzzing Beekeeper
  • Wedding: August 2013

@MLDoddie:  Every family is different. There are some families with a parents with a BRCA1 mutation that would choose to not have kids or to screen pregnancies or screen embyos (if they’re using IVF) for the mutation. However, I think the greater majority have kids but make sure their children know about their increased risk for cancer. There is no real “right” answer about that. It’s a very personal decision that you and your husband (and maybe a genetic counselor) should talk through.

As a note, most geneticists aren’t going to test minors (children under 18) for this mutation because screening doesn’t need to start until the 20s and that allows children to make the decision to know their mutation status on their own. Some people choose not to be tested because they see it as an ax hanging over their head. But since there is good screening, I think most people end up getting tested if they are at risk for having inherited the mutation.

Post # 13
Member
9551 posts
Buzzing Beekeeper
  • Wedding: August 2013

@MLDoddie:  You’re exactly right. No point in getting yourself into a tizzy at this point. Give it some time to sink in. Talk with your fiance. Then talk with a genetic counselor. It’s always most shocking in the begining. And remember that while this is serious, there are very good recommendations that can keep women with BRCA1 mutations healthy and living long cancer free lives. And there’s still a 50% chance your fiance doesn’t have the mutation and you don’t even need to worry about it!

Post # 14
Member
56 posts
Worker bee
  • Wedding: December 2012

 Both my mother and my maternal grandmother are breast cancer survivors. Both had mastectomies. I can’t give advice on the gene mutation because my family has so far tested negative for any gene mutation. My mom is currently in a long term study to see if any other test come up that would signal breast cancer. But believe me I am 25 and if I had tested positive I would have no hesitation pulling a Christina Applegate.

Now for the surgeries. The ovarian surgery is not terrible. In fact, they can do it laparoscopically which makes the recovery time pretty short depending on the person.

 However it is a different story for the mastectomies and reconstruction. Really, according to my mom the reconstruction was the hardest part. She was in the ICU for 7 days. She had a tram flap reconstruction where they basically do a tummy tuck. They take fat and skin from the abdomen and move it upward. There are also reconstruction options that require implants. This is what my grandmother did. After about 15 years she hated her implants and convinced my mom not to go with that option. But it’s up the woman to decide how she wants to look and feel.

One thing that I overheard my Dad telling my Mom to enourage her when she was feeling ugly with all the scars was  “I love your scars because that means you are alive”

I am also terrified about future children. My Mother-In-Law has breast cancer in her family as well. I have been trying to convince her to get tested if not for her sake but for her grandchildren. I am just thankfull for all the testing that can catch this cancer early and save so many lives.

Post # 16
Member
56 posts
Worker bee
  • Wedding: December 2012

@MLDoddie: My mom got the mastectomy in Jan 2006 and then had the reconstruction in July 2006. I think the wait time in between might be shorter for implant surgery. My mom is a bit unusual in the fact after her orginal reconstruction they had to go back in and reset the mesh holding everything together a couple of times. But that surgery is way less evasive than the orginal surgery!

She is 6 years cancer-free and I think had 4 extra “fix it” surgerys. The most recent she had a breast reduction on the good breast because the fake one has gotten smaller over time. Which was just a little bit of Lipo. 

Now with my grandmother she only had one surgery after, that I know of. She wanted to replace the implant, it got incredibly hard and uncomfortable after 20 years. 

 

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