BRCA1 positive and only 21 plus no family history

Hi Phoebe,  I'm so sorry that you got the news about the BRCA1 mutation.  Was this done as part of a larger test to assess all of your dna for deleterious (bad) genes?  You may want to get it re-tested by one of the companies (like Myriad or Quest) who specialize in brca testing, just to validate (repeat) the result, before you do anything else.

If the result is validated, then you should see a genetics counselor to go over your results.  Just to let you know, you can inherit a brca1 gene from the FATHER's side as well as the mother's side.  And, if the result is valid and replicated, it doesn't matter whether you have any other family members who had breast cancer, you would still have the higher risk, regardless of what that doctor told you.

So, your intent was to find out about your genes, and you did, and perhaps you have saved your life with this information. 

Next, after visiting the geneticist, you should find a high-risk clinic where they follow young women who are BRCA positive.  This is usually at a large teaching hospital with a breast cancer treatment center. You would be followed by a team, including a breast surgeon and radiology specialists and they would determine a monitoring schedule for imaging.

Finally, after you get all the information, you can always go to the "FORCE" website where they have information and support for individuals at high risk for breast and ovarian cancer.  Best of luck to you.  There are also support threads on bco which deal with issues faced by those who are brca positive.

I ditto Ballet & lintroller, except I'd go to the genetics doc FIRST and let them recommend what testing to do, rather than just asking for a BRCA test first.

Melissa: I would normally say that, but since she has already had a panel that indicates a BRCA1 mutation, there needs to be confirmation of that. That's not to say that a genetic counselor could not also indicate other panels to run, but this has been an issue with these types of tests. I'm an Outreach Coordinator for FORCE, and while we normally always advocate for genetic counseling (rather than testing), this situation is different. We saw a lot of this type of result when 23andme were giving medical information. 

Phoebe - I second the take a deep breath suggestion. It is going to take some time for you to digest this, but as lintrollerderby said THIS IS NOT A DEATH SENTENCE. Do find that doc who can be your partner in this. You may not need to do anything for many years. Screening for awhile is certainly an option. My DIL's mom is BRCA1, and DDIL was just tested (she is neg). However she was going to finish having her kids and do high risk surveillance for a few years before she had any surgery. Your risk of passing the gene on is 50%. And who knows, there may be a cure for BC by the time it could be an issue for your children.

I too would suggest getting a retest. There is a reason the 23andme was pulled from the US market.

My DD is 24. She is at least third generation at risk for pre-menopausal BC, but if there is a genetic link it is unknown. In some sense knowing that one has a known risk is a good thing. It allows you to be proactive as LRD's daughter was.

Don't panic. Take things step by step. This is just a bump in the road of your life.

Something doesn't sound right here. MtDNA is maternal only, but my understanding is that the BRCA gene is on an autosomal chromosome, hence the reason you can inherit from both maternal and paternal sides.

You're welcome, Phoebe.

These are called direct-to-consumer genetic tests. DTC testing has had quite an impact on the BRCA community among others. 

This doesn't necessarily mean the mutation came from your mother. Even though this is testing mtDNA, it's testing YOUR DNA. Much of the information contained in the report will reflect your female relatives, but remember, that your DNA (in every cell) contains your BRCA information. It's an autosomal dominant inherited mutation and the company you used tests in a comprehensive manner. That's why they gave you the info about HVR1, HVR2, and Coding Region being included. So, in addition to the info from your mother, maternal grandmother, etc (in an ancestral fashion as far as it relates to haplogroups), there's also info in there about YOU. And part of your DNA is what was given to you by your father. What is the family history like on his side?

Oops, I meant to add this to my post above. Here's your quote" "my doctor also said the same about my family doesn't sound like it has this gene mutation he said it can happen to skip 1 or 2 generations but since my maternal line is free of such cancers he doubts it a cancerous mutation"

As I stated above, my family had no breast or ovarian cancer, as is the case for many BRCA mutation carriers, yet cancer still happened. BRCA mutations can not skip a generation...they don't work like that because they are autosomal dominant. You either have a mutation or you don't. Also, if a doctor tells you that only your maternal line counts, find a new doctor...NOW. Paternal history is equally important in breast cancer risk.

Again, I will post a much longer message addressing a great deal of the info posted in this thread.

Lojo - May I just say that you are a fount, a bushel, a boat load, of knowledge. Thank you!

I have spoken with 2 genetic counselors today. I was speaking with them about other matters and brought up your case to ask their thoughts. Both were familiar with Direct-to-Consumer genetic testing (DTC) and the challenges faced with the health information section. Both stated that the result was concerning for a BRCA mutation, but said they could not be certain without seeing the actual report. One GC was familiar with patients learning of BRCA mutations while doing ancestry research and had counseled and re-tested 4 women who were in your situation. One thing that I need to stress to you. I forgot to mention it last night in my post and both GCs agreed with me on this: even if there is a BRCA mutation present, it does NOT mean that it is a deleterious (harmful) mutation. The analysis done by DTC companies is not comprehensive like the ones done by Myriad and Ambry, so they match results with mutations in their databases; they are not able to tell if the mutation is the harmful kind. Both GCs stated that you need to take the report to a GC and have confirmational BRCA testing done. Only then will you have an answer. Both GCs said that they understood the confusion over the mtDNA, but were aware of the situation that I mentioned in my above post, that the mtDNA portion is commonly used for the ancestry portion and the health information is often drawn from information about the DNA of the person submitting the sample. 

I want to address some points from the above posts. Bear with me because I know it is long.

• BRCA mutations include those that are: deleterious (harmful), suspected deleterious (believed to be harmful, but not enough information has been compiled about that specific variant), variant of unknown significance (there is a mutation present, but it is not known whether it is a harmful or benign variation), variant favor polymorphism (a mutation that is suspected to be benign), and benign polymorphism (this is routinely reported as a benign condition or listed as no mutation detected). Depending on the specific company, a benign mutation may trigger a match in their database and since the DTC companies do not do full sequencing, they will then list it under the BRCA section. 
• If someone does have a harmful BRCA mutation, their risk varies by the specific mutation they carry, as well as by the function of their wild-type (good copy) BRCA. This accounts for why some members of the same family with the same mutation have different cancer risks. Risk is also dependent on a carrier's exposure to carcinogens such as chemicals, UV, hormones, etc. 
• Phoebe wrote: "Also, we do not give information for medical diagnosis related to specific genes. I know 23andMe was doing that, but they have been recently shut down by the FDA.''          That is their liability waiver that they are not giving you medical advice or a diagnosis. Also, 23andMe were NOT shut down by the FDA; they were just told to not give the medical interpretation of the results. Patients can get their raw genetic data and have it interpreted elsewhere.
• Phoebe wrote: "also I have underdeveloped breasts which ive heard even increases the chances of cancer even more."         Your having underdeveloped breasts does not increase your cancer risk.    
• Phoebe wrote: "its just that I already have health anxiety and depression which Ive heard can also onset cancer"         Anxiety and depression do not increase your cancer risk.
• Phoebe wrote: " i guess mtdna test aren't that reliable or else anyone would just take that instead of a 3000 dollar test"    It's not so much that they aren't reliable; it's that they can't give you the information you need. All it tells you is there is something showing up. It doesn't tell you whether that's a harmful, unknown, or benign finding that is triggering the match. If it is harmful, it also doesn't tell you which specific mutation you have which would be important when other family members decide to test.
• Phoebe wrote: " i still am trying to understand how there could be a gene in my family that usually causes breast cancer while its unheard of in my family"     There may very well not be a genetic mutation in your family, BUT lack of family history happens fairly often. As I said, I am a BRCA1 mutation carrier with no family history. There are quite a lot of us in the FORCE community who have confirmed mutations and know of no other ancestors who had cancer. If a mutation is present, there was likely cancer in your ancestors, but the mutation was able to hide in male-dominated, small families. Remember that most people in the past were not diagnosed with the primary disease, but thought to die of something that the disease caused. I'm NOT saying you have a BRCA mutation, I'm just saying, the wondering about lack of family history isn't going to tell you anything. Also, remember that if FTDNA is using your DNA for the health info section (as opposed to using the mtDNA for ancestry), it will show your characteristics which will also be genetic information inherited from your father. Again, we don't know this for sure, but keep it as a possibility if your test is confirmed later. You mentioned your father's age and health, but not his family. 
• As for the information you've posted about the risk level. Here's the thing: it's being researched, it is not definitive. There are no known precise risk levels for ANY BRCA mutations. Also, IF you do have a BRCA mutation, you do not know if you have the one that is being questioned to confer lower risk. I'm not saying this to alarm you, but to tell you that no one can tell you precisely what your risk level is IF you get a confirmation of the BRCA result. Most BRCA1 mutations are thought to confer a risk higher than the statistics in the articles you've referenced; those breast cancer levels are closer to the range of most BRCA2 mutations. It's entirely possible that the risk for some are in the 45% range, but it would be irresponsible for a doctor to tell you that your risk is lower simply because of your heritage. 
• Risk level is lifetime and usually calculated to age 70. 
• Haplogroups are not a sure thing with regard to BRCA risk. I'm BRCA1+, but my haplogroup is not X. Don't read too much into the correlations. They are still identifying trends in this area, and even when there is strong association, individuals vary.
• IF you get a confirmed BRCA1 result, you can still have children. There are options. There's no need to cross that bridge unless and until you have a confirmed BRCA result.
• Lojo said: "and I don't think it's really ethical of a company to list this sort of information with no genetic counselors on call..."     I can't speak to the policies of this company specifically, but in my work as an Outreach Coordinator with FORCE, I can tell you that DTC genetic testing does very often list medical information in the absence of genetic counseling. That's why there's been such controversy. Whether that's what is happening here, I don't know, but it has happened a lot in the BRCA and other genetic communities in the last few years.
• I'm with Lojo, that I'd love to see the page with the results. Even the GCs I spoke to said they'd like to see them. 

Phoebe, I know this has been a long post. I don't want you to take an extreme approach either way. Please don't panic that you definitely have a BRCA mutation, and please don't disregard the finding because of lack of maternal family history and the fact that this was an mtDNA test. Both GCs I spoke with said that this needs to be investigated further so that you have the appropriate information. It may be nothing to worry about; if, God forbid, it is a deleterious mutation, there are options and knowing will be such an advantage.