Advice on private genetic tests after BRCA1/2 negative

Hello all!

Seeking some advice on genetic testing. I was diagnosed with BC IN 2015 at age 45. My maternal grandmother was also diagnosed at the same age. My mother was diagnosed at 65 with ovarian cancer. I was tested for BRCA1/2  and this was negative. This month my elder sister was also diagnosed with BC, aged 57. I contacted my clinical genetics team and they have advised no further testing for me but that my sister, obviously, should be tested. If she received a positive test result they would then review my options for tests. We have another sister who is, unsurprisingly, very anxious. 

I posted on ‘Ask our nurses’ and they’ve indicated the possibility of PALB2, TP53, CHEK2, ATM testing via private provider. Does anyone have experience of this? My and my sister’s cancer is not triple negative, which I understand would be more commonly associated with genetic  issues. 

Thanks for reading


I’ve been tested for all actionable genes (by actionable they mean genes they know enough about to specifically have a plan of action for) associated with breast and ovarian. Negative for everything at this time although I have a maternal aunt with ovarian cancer who had some genes come back positive. The genes that did though aren’t associated with ovarian cancer yet so go figure. Doctors are kind of puzzled but we’ve only just started working with genes, too. Could be they interacted to bring forth her cancer or she has a gene that isn’t known about yet. The same of course goes for me but you can only do what you can do. Anyway testing is very common here in the US and in fact for ovarian cancer it is automatically recommended even if you have no family history. And we don’t just do the BRCA’s. Some people do broad panel testing and I could have got that if I wanted but I told my genetic counselor to only do the actionable genes. If we don’t know enough about a gene to have a plan in place I don’t want to know if I have a gene. What would be the use beyond just ruminating on it and stressing myself out. 

So in saying that once you know you have cancer causing genes you can’t go back. It does change your whole lookout on your illness and these genes won’t be just associated with breast. They’ll be associated with other cancers, too, so keep that in mind mentally. However, if you have a large family history of cancer, and you do, then IMO finding out if you can pinpoint a cause will certainly help other members of your family in making decisions that could possibly keep the cancer from developing in the first place or do screens that could catch it early. Plus, if would benefit you of course because they could develop a plan to monitor you more fully in light of the gene. If you do private I would suggest going through a genetic counselor. They will assess your whole family history including age of onset of cancers and then test you for genes specifically related to that family history. Plus they would tell you about the genes so you understand fully what you are testing for. For example my genetic counselor and I discussed the full panel test but I declined it. She was okay with that and we only did the genes related specifically to the cancer in my family that had actually reared it’s ugly head. I didn’t want to know about genes for pancreatic cancer for instance. We don’t have that in our family. And from somebody who’s been through it, I would suggest both you and your sister be tested. Then you can compare results. For example let’s say you are positive for a gene that isn’t associated with your cancer right now. Well it’s just you testing positive so that doesn’t tell you much. But if your sister tests positive for the same gene then that tells you in your family, despite what we know medically about that gene right now, it is probably the cause. And that gives both you and your family an answer AND tells the medical community that this gene may be associated with more cancers then they realize. Anyway if you have any questions let me know. Insurance paid for all my genes that we considered high impact. The medium impact genes, the ones that increase your chance of a certain cancer only moderately, I had to cover out of pocket. It totaled 275.00 US dollars here.