have BRCA1, BRCA2 and PALB2?? Anyone else?

JT2015

So I had genealogy testing done through 23andme.com which was really neat as I was able to see where all my ancestor's came from. Then I heard that you could have your genome analyzed for genetic issues through a very reputable site called Promethease.

Well, it showed I have BRCA1, BRCA2 and PALB2....has anyone else had all three??? Wow. Big shock here. My paternal grandmother died of breast cancer in her 50s but no one else in my family has.

So my questions are:

1) These are all mutation genes correct? BRCA is the normal Gene all people have but 1 and 2 are mutations? Is this correct?

2) Anyone else used 23andme and got a positive result that retested positive elsewhere??

3) Where do I go from here? Do I get this retested professionally?

wow. Still in shock. Any advise/ comments would be so appreciated.

Thanks so much in advance

Moderators

Welcome to BCO JT2015, we're glad you found us.

You may be interested to read articles from our main site:

BRCA1 and BRCA2 Testing

Genetic Testing

and more if you follow links in those articles. This info is up to date, which is important.

We wish you the best but hope you discuss your results with a medical professional to assist with decisions as to where to go from these results.,

The Mods

Radmap

JT2015,

It's easy to get confused, because all these gene and DNA variant names get thrown around in the press (and in forums like this) in ways that are often out of context. To answer your questions:

1) No, not correct. There is a gene called BRCA1, and there is another gene called BRCA2. Everyone has both of these genes (and about 25,000 other genes too). Most people have the normal version of each gene, which really just means the most common one.

2), 3), 4): Most likely there's no need to do anything, actually, since probably you will now realize that it's a good thing that your report said you have a BRCA1 gene, and you have a BRCA2 gene, and you have a PALB2 gene, etc. The real question is, do you have the normal versions of these genes, or do you have versions linked to higher (or lower) cancer risk?

Assuming the test is reliable and comprehensive - which is another matter all together - you should only think about these other questions if your report says that you have a specific variation in one of these genes that has been linked to a high probability of breast (or ovarian) cancer.

And regardless of what any of these tests may say, if you have a family history of breast cancer or are worried for any other reason, it's never a bad idea to seek advice from a genetic counselor and/or your favorite health-care provider.

DiveCat

Did it actually show a MUTATION or just that you have those genes? We ALL have those genes...including BRCA1 and BRCA2. They are part of the genes we all inherit as human beings. On each gene some variations are completely normal with no higher risk. The actual concern is an identified harmful mutation (for BRCA1 or 2, a deletion or insertion, which makes them "BRCA1 or BRCA2+"). Together, BRCA1 and BRCA2 mutations account for about 20 to 25 percent of hereditary breast cancers and about 5 to 10 percent of all breast cancers, so they are not common, and most breast cancers are sporadic. Having one relative with breast cancer is usually not in itself a flag for hereditary cancer, particularly if post-menopausal.

23andMe no longer provides health reports, so my guess is you are looking at your raw data and running it through programs, but you are lacking the context and information to properly interpret those results. I had 23andMe testing a long time ago, but they only tested for 3 possible mutations in BRCA1 & 2, but provided raw data for dozens of SNPs a on BRCA1, BRCA2, PALB2, etc....this does not mean there is a mutation. Indeed, I can say my genetic testing - true BRCA-testing - was negative.

You really should talk to a genetic counsellor to interpret your results, or discuss if you should have other genetic testing. 23andMe is very limited in what they test, how they test, and now what information they provide.

Radmap

DiveCat makes a good point - companies test only a subset of the known mutations.

SNPedia, the source of information for the Promethease reports produced for people based on their raw data as uploaded from all the common DTC testing companies, lists which BRCA1 and BRCA2 SNPs are actually assayed by each of these companies on this webpage. You have to go to "further results" near the bottom of the screen to even get beyond the first 50+ SNPs, which are ones with conflicting data about whether they are really linked to breast cancer.

This list of BRCA1 and BRCA2 SNPs seems to go on forever, because there are thousands of listed mutations in BRCA1 or BRCA2, but the main point is that the vast majority of pathogenic (bad; "CLINSIG" category 5) mutations are not tested by these companies. They only test the most common and "best known" mutations, like BRCA1 A1708E (rs28897696).

Babyboy9

I am BRCA 1 and BRCA2 postive. just got tested last month.  i was told to go to an oncologist i just made an appt to hear what he has to say.  i suppose after the oncologist he will recommend a breast surgeon.  i have decided to get my ovaries taken out in the summer.