BRCA1 positive and only 21 plus no family history

Lojo

phoebe,

Can you list the specific mutation that is the concern? Something with ATGC nd a number?

PhoebeStephanie

and thank you very much for your help/information lintrollerderby

trying to think about it natural now butmore towards the negative side cause im jiust preparing myself

PhoebeStephanie

@lojo it just said brca1 i couldnt see anything more about it or any of the other genes

all the other genes i googled as well all of them and nothing serious like this came upwith the others

lintrollerderby

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.

PhoebeStephanie

@ yes it was present in the hvr1/2 differences

im not sure i can since doctors only will only accept  the patient if he or she lives in their city regio certain areas of the city and he is the only one in mine

i actually do like him but i think due to me over the past 7 months calling him thinking i had lymphoma/leukemia/stomach cancer etc he may is getting a bit annoyed with me which is perfectly understandable ofcourse but i need to know as im sure everyone here will understand, yeah he just keeps mentioning it isnt hereditary gene cancer for no reason, but i was thinking depending on what the brca company will tell me if they insist me to get tested i maybe can show that to my doctor or if that wonr work out maybe they can give me advice or help

lintrollerderby

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?

lintrollerderby

You mentioned your father's age and health. Do you know his family history of cancers? BRCA is implicated in cancers other than breast and ovarian.

Lojo

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?

PhoebeStephanie

his father died of a heart  attack at 80 his mother 93 is still alive her sister is also still alive in her 80s 2 other sister and 1 brother have passed at old age 75 83 and if im not mistaken the other sister late or mid 80s sister passed away in her sleep the other sister just became very ill but never had cancer and her brother alsoof a heart attack

so there is a history of heart attacks on my dads side but no cancer

and as far as the company told me only man can trace their male family line through dna testing women cant and that they can only test mtdna so only their moms side no ydna so that why i keep focusing on moms history

lintrollerderby

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. 

PhoebeStephanie

@Lojo i will try to post my test results in a few days i kept the results on my tablet but left it at someone elses house to borrow will be returned in a few days

i dont understand it either there really IS in the hvr1 differences in the second row of the genes brca1 i doubt it is a mistake they made i also already tried googling hvr1 differences brca1 but nothing came up i know the brca1 mutation is rare but i cant imagine imthe only who ever had this

lintrollerderby

im sorry i didnt know that was possible as well in the beginning i actually thought everything would have been tested all lines but i wanted toknow about myfathers mother ancestry but when i emailed the company about this they said the test i took only is used to trace all of my my mothers ancestry 28 generations back

and it said on their website their tests arent used for medical purposes and they dont give medical advice 

so now its just waiting for the brca company they said theyd reply in 3 days and i send the message on saturday soi think i can expect it tomorrow

DiveCat

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.

farmerlucy

Divecat - I read about your mom on another thread. I am soooo sorry about her progression. My hearts goes out to you and your family. Gentle hug.

PhoebeStephanie

@ divecat thank you very much for your reply i do feel a bit better at first i just thought mutations arealways rare in those genes and never  benign

and a update the brca company emailed me back and i must say i am a bit dissapointed with their service i wrote a email about how i did a genetic genealogy test to determine my mothers line and the test company was (i think)popular in america...and they just keep saying if i cant go back to the hospital that did the medical test, when i already explained the company was in america and the test i didnt wasnt actually meant to give medical advice..

second bad news my friend just brought over my tablet she dropped it and couldnt get it on anymore,

and i think im going crazynow

so now iprobably have to take another mtdna test again which will probably take around 4 months for them to send it to me me to send it back and them to make the results

great.