Topic: BRCA2+ with young daughter -do you have her tested?

KMG, I'm also BRCA2+, so is my mother & sister - we've all three had bc.  While I don't have children, my sister has two young children.

I found out I was BRCA2+ at age 41, when my sister was dx at age 36.  I knew there was a strong family history (both grandmothers died of bc), so I'd started surveillance early, but finding out my BRCA status still came as a terrible blow.  What got me through the years of knowing, the years of waiting and watching, was having a sense of control over things.  I CHOSE surveillance.  I CHOSE lump vs mx.  I CHOSE to decline chemo.  I CHOSE to wait 8 years for my ooph.  And I can honestly say I do not sit around in fear of a recurrence.  I'm too busy living my life, which is full and happy and active.  

I cannot imagine what I would have done at age 18 if I'd known I was BRCA2+.  I don't know that I'd know what that meant!  Or what decisions I'd have to make.  I'm just grateful that events unfolded when they did, after I'd had a chance to develop some sense of myself - who I was and who I wanted to be.  

While I can certainly understand the relief if you found out she was negative, there's an equal chance you'd find out she was positive.  What will/can you do then?  And should anyone other than your daughter be the one to make such permanent decisions about her life, her identity, her sexuality, etc etc?  We talk so much on BCO about how difficult these decisions are - for women who are in their 30s, 40s, 50s, and above.  I cannot imagine how difficult it would be on a young woman.  With all due respect, I would encourage you to think long and hard about this.  At the end of the day, it's your daughter's life and body.  I think she should be the one to make such major decisions that will affect her life forever - including the decision to test.

Hello

 Well I have a little different take on the gene analysis testing.  Please get it done as soon as she can. My daughter is 20 and I'm glad she did. (Tested negative) Your daughter is young but why go through so many years of wondering and worrying when you can know as soon as both of you are able to? Prevention is the key! I think knowing and preparing is good. If she's + it's not a matter of "If" it's "When". Yes it's a blow to find out but it can be a lifesaving fact.

Had I known my gene results (BRACA1+) 5 days prior to my lumpectomy last year, I would have totally changed my decision. I was set to have my prophylactic DBL MSX this June when unfortunately I was hit w/recurrence and IBC.

Sorry I disagree with Ivorymom. 6 months ago I may have agreed, but then again I thought I was in the clear and had more time.

Good luck to you and think hard. Discuss with her when the time is right.

Jeannine

I went to a meeting of our local BRCA support group recently and a genetic counsellor was there and this was the topic of her talk. Women don't generally get monitored until about age 25 (which might be considered late) so she suggested telling about the gene mutation somewhere between ages 18 - 25 when the woman is old enough to understand and make a decision about testing. She also strongly recommended that before telling, it would be wise to meet with a genetic counsellor and make sure that you have all the current information to add to that information. The key question was: "What is the purpose in telling a young child?" "How will that help her?" IMHO, this is more than the parent wanting to know, it's about taking care of our childrens' mental and emotional health as well. I just recently found out that my son has inherited the gene mutation from me and now there is a 50% chance that he has passed it on to my 2 year old granddaughter. They also got advice from a genetic counsellor and will wait until she is old enough to understand and to make decisions about testing.

I am also BRCA2+, with a teen daughter.

She must be of age to decide if she wants or not the test. This is not negotiable - legally - in most countries.

I fully understand your stress over the question, but also think of her. This decision is really hers to take - not for you and your stress, but for her own life.

In the meanwhile, you have to think that - as other point out - knowing now wouldn't change anything, would only add to fear and stress.

My mom is most likely BRCA2+ (we don't know, the docs didn't consider the test relevant now) and she had BC. My sister is disease-free so far (she is 43), and BRCA2-. So there are chances that your daughter will be too. Try to put the questioning aside for now, take care of your health.

Remember also that - should it come down to this down the road - treatment evolve all the time. The difference between what my mom went through 30 yrs ago, and my treatment 2 years ago are dramatic, as well as my chances. Should your daughter be positive in 15 years - there may be treatment for that!

Of course it is relevant information, but for a young adult and not for a child.  

If I had had the chance to ensure that my children were BRCA free, I would definitely have gone through the process that has been developed. Unfortunately, no one knew of BRCA when my kids were born.

Here is something to REALLY consider as well:

If you were able to get your young daughter tested how are you to guard that information? There is only one test site in the United States (and, really the world) that tests for the BRCA gene mutations. Once those results are available there are really no protective devices around in terms of info leaking out to life insurance companies and such. Also, if you do test your daughter and you falsely claim no knowledge of her having this higher-than-average chance of getting certain cancers and it is found out, it could lead to her unable to be insured.

Since 1994 when the BRCA gene mutation was "accidentally" discovered, no real protection of the carriers have been firmly in place. Matter of fact, even if someone who carries these mutations and knows about them, yet do not have cancer, they could possibly have to pay higher premiums for life insurance, or worse, be denied. There are no laws protecting the carriers of this genetic mutation in terms of obtaining insurance.

I just want you to know as much as you can before you make your own, informed decision. It is a lot to think about.

--brando

to amylsstrong:

You are correct about the law the former president Bush signed...but, if you read it (google it) it only ambigiously protects against health insurance...not life insurance...also, there are other gray areas in there that do not fully participate in protection. Like all laws, they are never concrete, often very wordy for the lay person to comprehend, and often do not deliver in all its intended purposes.

The main point here is to be careful with health information for minors. It may seem trite, but you do not always have protection when it comes to any information regarding your health...I have worked in healthcare for many years and there is not a week that goes by where health information is not violating the HIPPA guidelines set forth from congress and the president.

--brando

Don't you have to wait until after she hits puberty?  Because doesn't it turn on after a person does?  That may be the reason why they told you to wait.

Kathy, it may be a strectch to say that Myriad's "suspected deleterious" is a case of "they don't really know". They actually recommend interpreting it exactly like any known deleterious mutation, with the same surveillance and prevention guidelines. And insurance companies agree too.

 Of course you are right that the label "suspected" means that the situation isn't like "absolutely 100%" clear, but it may be something like "99.5% clear".

 Does it make testing reasonable for the young men? Even after they can give consent? Hard to say. PC isn't a risk until 40s if not 50s? And in 25 years, medicine may change so much, we just might be able to say better what changes the risk from one person to another. For BC, my best guess is that it may be the volume and density of the breast tissue, but a search for "modifier" genetic factors in the rest of our 20,000-odd genes is ongoing, too.

Kathy, I am quite sure that they cited the "99.5% confidence" on several occasions before. Last fall there was a series of articles on "variant classification" in Human Mutation journal, and a team of researchers argued that it's already time to "relax the stringency of classification". They argued, with risk stats in hand, that it is worthwhile to call a genetic variant "suspected" even if there is "only" 95% confidence that it is truly deleterious. But so far, nothing changed. The world of testing labs and genetic counselors still maintains that if you call something "suspected", you better be almost absolutely confident that it is indeed dangerous.

 Did you google you BRCA2 variant, like what the scientists publish about it, how it may be classified in other parts of the world? It's always a good idea to study your specific variant if you have any doubts, even small doubts, about its significance. I mean you wrote that you looked online, but what did you specifically look for, this one variant or "suspected" mutations in  general?

 There are many papers discussing risks for carriers of BRCA mutations, but almost without exception, the researchers lump all mutations in the same gene together. Individual mutations are rare and it's even harder to getgood numbers for statistical analysis. Combing all individual mutations in one pile helps, of course.  I actually do some of that stuff too, I've become professionally involved with some aspects of cancer genetics in resent years ... but my interest is still very personal, because I come from a cancer family (not BRCA). Solving these puzzles is what my own family needs too.

BIC database at the NIH and Kconfab in Australia are the biggest repositories of the public mutation classification info. Both are smaller than Myriad's private database, supposedly, but still big enough to find all common mutations there. The European national health systems unfortunately also keep all their data for themselves. Sometimes it is a problem to find exactly the right mutation because of innocuous clerical errors, or because different countries use slightly different rules for naming mutations. If you don't mind posting what is the name you are looking for, I'd be glad to try too.

Oh, I see, these "IVS" variants are hard to google. Because the name references a "part of the gene" rather than a specific letter at a specific position number ... and many genes other than BRCA2 also have a "part" called IVS22 (literally "intervening sequence number 22" or simply "intron 22"). To make matters worse, Google doesn't even understand plus signs and more-than signs.

 You can't google into BIC database but your mutation is listed there. BIC says that it is "clinically important" http://research.nhgri.nih.gov/projects/bic/Member/cgi-bin/bic_query_result.cgi?table=brca2_exons&nt=9181%2B1&base_change=G%20to%20T&exact_search=1

There is also a very similar mutation in this part of the gene descibed by Japanese researchers more than a decade ago, but they didn't follow through and nobody else mentioned the Japanese "IVS22+5" mutation ever again ... so who knows, it may have been a fluke of the obsolete technology of the day?

If you don't mind going even more technical ... A Biology 101 one-pager on introns and their processing (called "splicing") can be found here:

http://www.web-books.com/MoBio/Free/Ch5A4.htm

The tutorial begins from explaining that there should be a "G" at the start of any intron (that's the +1 position which is mutated in yours). Replacing this "G" letter in this position generally doesn't portend any good to the gene function, and so it comes as no surprise that both BIC Board and Myriad agree that it must be bad.

Yes, it's so easy to overload a post with all the genetic technicalities. Some people yearn to know all there is to know about their variants (knowing feels kind of like being in control). Others are more intimidated by the medical and scientific mumbo jumbo (seeing even more hard-to-understand things feels like not being in control). In the end everyone just needs a good estimate of her own risk ... and there is no satisfactory answer.

I would even say, the genetics community isn't really trying to provide the answers. The cancer risk is an uncertainty pile on uncertainty piled on uncertainty, but the physicians are compelled to paint the dangers in the darkest possible hues, and the preventive strategies in the rosiest colors possible. This week's mammography guidelines blowout is a good example why everyone is afraid to "send a wrong message" (wrong = less scary).

Your lab report probably says that the risk "may be as high as 80 or 85%". It would cite some very old research papers to support the numbers. "As high as" means, in plain English, that the risk is not stronger (but may be weaker). In fact it is almost certainly weaker, because the old studies worked with the highest risk families. And "highest risk" is, in plain English, "worst luck". More cancers than average, earlier cancers than average, that's what the bad luck really is. Average risk is bound to be lower - maybe 70%? maybe 60? But almost nobody wants to send this sort of a message to their patients. So the medical community isn't looking for more precise answers. The old studies paint a gloomy picture, and it's all the world wants to know.

Yes, "similar mutations" includes "other +1G's" in IVS's with other numbers. Some of them have been thoroughly studied.  And yes, BIC is several years out of date. And yes, Myriad will give an update, like how many times they have found it to date. And yes, in the end you are still left with estimates and probabilities. Even the actual cancer diagnosis is still an uncertain thing. Some cancers never even grow to be dangerous. Others grow but do not spread. We are just human beings, we can learn to multiply and to divide but our minds are really not wired to understand probabilities. Sometimes the best we can do is to assume the worst.

Misleading reports? You really wanted to write that? I think it is a very strong choice of words. Too strong. The reports cite good studies, and don't really hide the fact that the studies of this kind may have overestimated the risk (but probably not by a huge margin). Of course by doing a random population-based study, rather than a family study, one might be able to get more reliable numbers. Or by prospectively following mutation carriers. But in the real world, neither works well. The mutations are too rare, and random studies net too few mutation carriers, and therefore, too wide margins of error. And prospective studies are also too small and too biased, because nobody can tell these women not to have preventive surgeries. It is just an unethical thing to do.

 But what interests me more is the calculation of your medical oncologist. Did you subject him to the same level of scrutiny? Do you know what research or clinical study papers he used to calculate the 11% / 30% numbers? Do you have the photocopies or printouts? I mean you did a great job scrutinizing the weaknesses of the Myriad numbers, but did you do the same with the oncologist's numbers? 

Kathy, thumbs up, you are doing such a thorough job in such trying circumstances, my heart goes out to you. Please forgive my defensive tone in the previous message, I was kind of stung by your words but that's OK. You didn't have platinum drugs yet, right? These BRCA2+ tumors are supposedly extremely sensitive to them, and to brand new PARP inhibitors too (and PARPi's aren't as nasty on the side effects). But maybe you wanna have a secret weapon or two still sheathed. ER/PR+ sounds like typical BRCA2 and should bow to your hormone warfare. And generally in many ways the BRCA2 tumors are similar to non-genetic bc's (BRCA1s are different, often TN and with other strange things about them). So maybe, just maybe, your BRCA2+ forecast can be made by a tool which doesn't even factor in your BRCA2 status. Oh well.