Genetics testing

[Salmon45]

Hi ladies

I have an appointment for genetic testing can anyone tell me what it entails? I have no idea what to expect.

Love Maxine xxx

[Joanie12]

Hi Maxine, did they say what they are testing for, is, brca 1or 2? I'm 12 months into this journey, currently on avastin but they did test on me and I'm brca 2, this meant my siblings and my children are being tested for the gene. Unfortunately the only one that has a positive result so far is my daughter!!!! She now has a gyne appointment next week to see what options are open to her. I hope you enjoyed your holiday, I'm off on mine tomorrow!! Take care and best wishes xx joanie

[Salmon45 in reply to Joanie12]

Hi Joanie I have not been on hols yet. It is 6th August 😁 where are you off to? They said they are testing for the brca gene. Is it bloods they take for testing? Have a lovely hols xxx Maxine xx

[Angie-69]

Hiya mine was just a bloodtest and thankfully was a wildtype gene so family haven't got so much to worry about. Good luck to you hope all goes well x

[Salmon45 in reply to Angie-69]

Thank you Angie xxx

[RonLitBer]

Typically this is just a blood test Maxine. The usual test is for BRCA 1 or BRCA 2. It has implications for treatment. Treatment is more effective on BRCA 1 and BRCA 2 positive patients but many who test negative (as Angie-69 has stated wild type) for either BRCA 1 or 2 still get OC. There are two distinctions that should be made however. You can have either a germline or a somatic BRCA 1/2 mutation. If they find a germline mutation in either of these DNA repair mechanisms your children (if you have any) should also be tested and further afield testing for siblings, parents, etc. This is because a germline mutation would have been passed down to you and other relatives just as you can pass it down as well. Genetic testing also may find that you have a BRCA 1 or a BRCA 2 somatic mutation. This is actually "ideal" because it means that you CANNOT pass it on to offspring and you did not get the mutation from parents but it helps with treatment (like PARP inhibitors as an example). There are now quite a few additional mutations that are being tested for that have been found to impact development of OC besides BRCA 1/2 (which have implications for treatment as well) but they don't seem to do these tests where I reside unless it is for a specific clinical trial. I imagine this is a cost saving issue for the health care system.

[Salmon45 in reply to RonLitBer]

Thank you so much for the information. I had no clue as to what is is about. I do have 2 daughter's so it is important that I get this done.

Thank you so much again

Maxine xxx

[RonLitBer]

This may be a site for additional information. It is a United States organization.

facingourrisk.org/understan...

[Salmon45 in reply to RonLitBer]

Thank you Ron I really appreciate it xxx

[Lyndy]

Hi Maxine

They should go through a counselling session with you to explain everything..the implications if you are positive and your family history of cancer. I found it interesting and although I am BRCA I...I discovered that this can offer more treatment options xx

[Salmon45 in reply to Lyndy]

Thank you for your reply Lyndy. I have to go on 2nd. Does the process take long? Xxx

[grammeejill]

Hi, Salmon. It's not scary at all. I had researched the genetics test ahead of time. Met the Doc. He took a medical history of cancers and illnesses in my family. He took one tube of blood. 1 week later, I went in and we discussed the results. He gave me a folder of the labs and info and they also sent the results to my gyn/oncologist. I have 3 daughters so it was an important part of my treatment.

I was BRCA 1 &2 negative with one small mutation that has no understanding yet.

[Salmon45 in reply to grammeejill]

Thank you so much for your reply. It's really helped.

Love and best wishes

Maxine xxxxx

[Joanie12]

Hi Maxine just taking in the rays in France at moment. It’s a simple blood test I waited a few weeks for results and as it was positive was seen by geneticist. They explained family would be able to be tested. Now awaiting gyre appt for daughter who has come back positive so will wait to see what happens next. Good luck to you and take care xx

[Salmon45 in reply to Joanie12]

Thank you so much Joanie for your response. I feel I have more understanding now. I have to go on Monday xxxxx

[March2017]

Myself and my daughter are BRCA2 MRI for breasts 30-45, mammogram there after, mastectomy suggested , I can't have one yet as only 14 months out of surgery for stage3 OC, but I want one. My daughter is learning disabled/ sensory issues, so to be discussed at a later date. Apparently many just stick to checks , it's your own personal choice. For my daughter Fallopian tubes and ovaries to be removed at 40. She could opt for Fallopian tube removal alone before, ovaries later, as 75% of cases stem from tubes ( mine did ) Hope this helps . Went to a BRCA Information evening last week lots of preventative stuff on the way.Had loads of counselling all through. I have a son not yet tested. I wish you all the best , my results took 2 months , my daughters 4 weeks x

[Salmon45 in reply to March2017]

Thank you so much for responding. I have a much better understanding of it all now xxxx