unexpected genetic results

Hello eveyone,
I haven’t posted in a while and did not think I would be back so early…I finished treatment in March this year. Was diagnosed at 34 with TNBC with no family history of any cancer on both sides.
I had the usual, 8 chemos, WLE and then 33 rad…all went OK as far as treatment goes.
I have 2 little girls (4 and 2), no sister, and thought I should get the gene test done to know for them.
I had my gene test results yesterday and they can’t tell me one way or another and want me to have further tests. They said I need a RNA test which is a blood test that will reveal more. They said there is a gene alteration on the BRCA1 but it is not clear if it is the usual mutation that results in cancers. They added that only a small % of people have that results but out of the people who continue with further tests most of them generally are found to have a pathogenic mutation.
I’m slightly lost and on top of that I’ve now left the UK nearly 2 months ago for a 1 year mission with work in Oz and I’m not sure where/if I can have the test done in this country…
Has anyone been in this situation and done the RNA test? any thoughts are much appreciated.
Love to all,
x

Hi fighter

Sorry you have an inconclusive result.

There are hundreds of mutations in the brca 1&2 genes some are pathogenic ie cancer causing, some don’t cause cancer and some are called unknown variants and these ones don’t have enough info as to whether they cause cancer or not… It sounds like you have an unknown variant… There have been a few threads about UVs recently but we normally don’t consider them higher risk until we have more evidence… Your girls are so young right now they will hopefully have a lot more information as they get older.

However for you personally you could ask yourself what you would do if was known to be pathogenic… Would you be rushing home o have more surgery or continuing with your job overseas? If you wouldnt be doing anything urgently then I would say there is no rush to have more testing and in a years time the techniques and information available may be much improved.

Are you registered with a gp in oz if so you could ask them to refer you to the local genetics centre but they may not offer the same testing as you get here.

Lulu xxx