BRCA1 positive and only 21 plus no family history

So, it reads "BRCA1" in the section under HVR1/2 Differences? 

As for the mutations in the other section, that's meant in an ancestry sense. Mutation there means how DNA has copied itself and the changes that have occurred so that matching ancestors is possible. 

Any chance to get a different doctor? His flippant response is insulting. You may very well have no BRCA mutation, but he certainly doesn't know for sure and the fact that he keeps talking about lack of maternal history only proves his ignorance of the subject.

You're welcome. Here's the bottom line: your genetic sample matched a variation in BRCA1 sequencing in the database used by Family Tree DNA. That variation could be a completely benign occurrence that will not harm you, or it could be something more ominous. The advice of the genetic counselors I spoke with today, as well as my own advice (not medical, but as a patient advocate in the BRCA community) is to find a way to get a definitive result. I hope the Dutch BRCA Association can help. What about the Dutch Cancer Society?

Hi Phoebe,

I guess I don't understand the data presentation. In The sample you posted all the differences from.the reference sequence are listed by their nucleotide changes and position (A16129G) and not the common name for the gene (BRCA1-- which is the name of the region of chrom 17 that biologists called it because it is associated with BReastCAncer. The T1643G, etc is a reference to changes in the letters of the genes. Can you post a picture of your results, with your name/id blocked out?

I get the ancestry portion. MtDNA traces the mother, for ancestry purposes. Y-DNA is used for males to test ancestry. But, some other companies that do this same testing run the mtDNA or Y-DNA testing for the ancestry results, but test the DNA of the person submitting the sample for the health related information. This company may or may not do that. That's why I'm telling you to not exclude your father, because we don't know if this company is testing for things that show up in YOUR DNA that can come from either side. 

You can have MANY genetic variants in BRCA1 or 2 that are NOT considered deleterious mutations. I have done direct to consumer testing before (23andMe) and my raw DNA and ancestry results showed several variants in BRCA1 and 2 , basically single nucleotide polymorphisms, that are not considered deleterious (harmful) mutations. Meaning I am not BRCA1 or 2 positive. It is not at all uncommon to have variants in those genes that are not considered harmful. I had actual full BRCA panel testing through Ambry Genetics due to family history and am NOT positive for a BRCA 1 or 2 deleterious mutation.

Unlike you, I do have a very strong family history of breast cancer, though, so am considered high risk anyway. There are likely other unknown genetic risks at play in my family.

Lintrollerderby has already been very informative, but it is important that you actually clarify these results with a genetics experts. I fear here you may be confusing DNA results that the testing company used to determine ancestry/relatives as a sign of a genetic mutation, and that is just not necessarily the case....it may have just been an identifying marker that happened to be in BRCA1...remember we ALL have BRCA1 and 2 genes. The concern is if there are deleterious mutations in them. Maybe there is a concern, but my concern is as above...that you are confusing a reference to BRCA1 as a marker for ancestry purposes as evidence of a harmful mutation.