Genomic sequencing for triple negative. Any experience or advice? Thank you

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I am interested in having genomic sequencing for my triple negative breast cancer to best design treatment post lumpectomy. Any experience or advice would be much appreciated. Have left a voicemail for my breast care nurse this morning.

  • Just replying to get you bumped up the list so you will hopefully get relevant replies.

  • Are you talking about BRCA? If so, this will have no effect on treatment but would have significance otherwise in that those who have alteration in one of the genes may want to consider taking preventive action, which may mean more surgery. Your team can refer you to the geneticist, who will then explain it all in full detail. You can then take as much time as you want to make your mind up without delaying any treatment after the lumpectomy for the current cancer. 

  • Thank, much appreciated. I'm not familiar with how these forums work!

  • Hello Thanks for replying, well BRCA would be a useful tool, not for hereditary use for me (I have sons) but to help identify the type of TNBC I have, the genomic sequencing I have read about may help to tailor the chemo I have to eradicate any remaining micr cells that might re-establish themselves. More seems to becoming uncovered about TNBC, the hormone receptor breast cancers are better known as more women have it.

  • Thanks for clarifying. The presence of the any of the BRCAs mutations could be significant for both daughters and sons. This is partly because it's applicable to some other cancers, and also because breast cancer can affect males too. They also test for PALB2, and I think it is safe to assume more will become known in time so they may start testing for more genes. 

    Do you have a link to the data regarding the sequencing you are referring to, to do with treatment? I am very interested.

  • FormerMember
    FormerMember

    I am undergoing genetic sequencing right now. Blood sample in the lab as I type. Takes several weeks. Had 2 calls with a counsellor to discuss the why's and wherefores. No history of breast cancer in family either side, but I have sons and several generations of men with prostate cancer and 1 grandmother with ovarian. Hope results will inform next stage of treatment and also for family..always feel better to be informed.

  • Hello GreyCats many thanks for your reply. I'm 57. Yes you're right I many wish to inform other relatives and I have sons, I read the BRAC may have some baring on the triple negative breast cancer as it is less understood? I guess there is an algorithm for all of this!

    I went to my GP in Sept after a pea sized lump changed into a 'Worthers original' shape. I had a mammogram in Feb 2019 & the nurse thought the small lump was a crinkle in my breast implant. Yes I know I am an Essex girl, what can I say!?

    I was fast tracked through the cancer pathway for a mammogram, saw the consultant there and then who said it looked "nasty", ultrasound and offered biopsy there or then or come back if unsure. Hell yeah! I'll have it here and now, I thought. Very caring team, lights were dimmed and another nurse asked me about work and family to take my mind off the biopsy. Couldn't fault the service I have received  They asked if I was with anyone and my husband was wandering about in the concourse as not able to wait with me. The nurse went & found him & brought him to me and the consultant spoke to us. A week later we went back for results and confirmed as triple negative. We had a holiday booked for Nov that had been postponed twice already, she was happy for us to go ahead and booked me in for surgery on 2 Dec. 

    I had lumpectomy and 3 nodes removed. Pathology results 10 days later by phone (due to covid) Nodes all clear but not satisfied the healthy tissue has clear enough margins so back for more surgery on 22 Dec to scoop out the remaining micro cells of cancer. Consultant said this happens in 20% of cases.  I'm Ok with this. Its a nuisance but in the great scheme of things, what a wonderful service.

    Top tip: a small soft pillow or soft cuddly toy to stick under your arm for after the operation, hubby picked me one up in a camping shop. I have an incision under my arm for the nodes removal which has been more tender than the one on my breast. Follow their instructions to the letter. Rest as much as possible. I still have a nap most afternoons. It's all so exhausting and I'm done with being superwoman!

    With cancer being such an umbrella term and triple negative label just saying it is not responsive to hormone inhibitors that have been successful in reducing recurrence for 80% of breast cancer people, I have been researching to see what would be the best treatment after an operation.

    Well thats my story so far....I'm feeling very positive and think attitude will help me through.

    Wish you all the best for your op. xx

  • Hello Orienteer

    Hope you can help find a way out of this?

    Many thanks for your reply. I'm 57.  You many wish to inform other relatives and I have read the BRAC may have some baring on the triple negative breast cancer as it is less understood? I guess there is an algorithm for all of this!

    It's the genomic assaying or sequencing I am interested in also that looks at the tissue samples to determine the type of triple negative cancer, as triple negative diagnosis means it is not responsive to hormone inhibitors for post surgery treatment.

    I went to my GP in Sept after a pea sized lump changed into a 'Worthers original' shape. I had a mammogram in Feb 2019 & the nurse thought the small lump was a crinkle in my breast implant. Yes I know I am an Essex girl, what can I say!?

    I was fast tracked through the cancer pathway for a mammogram early Oct , saw the consultant there and then who said it looked "nasty", ultrasound and offered biopsy there or then or come back if unsure. Hell yeah! I'll have it here and now, I thought. Very caring team, lights were dimmed and another nurse asked me about work and family to take my mind off the biopsy. Couldn't fault the service I have received  They asked if I was with anyone and my husband was wandering about in the concourse as not able to wait with me. The nurse went & found him & brought him to me and the consultant spoke to us. A week later we went back for results and confirmed as triple negative. We had a holiday booked for Nov that had been postponed twice already, she was happy for us to go ahead and booked me in for surgery on 2 Dec. 

    I had lumpectomy and 3 nodes removed. Pathology results 10 days later by phone (due to covid) Nodes all clear but not satisfied the healthy tissue has clear enough margins so back for more surgery on 22 Dec to scoop out the remaining micro cells of cancer. Consultant said this happens in 20% of cases.  I'm Ok with this. Its a nuisance but in the great scheme of things, what a wonderful service.

    Top tip: a small soft pillow or soft cuddly toy to stick under your arm for after the operation, hubby picked me one up in a camping shop. I have an incision under my arm for the nodes removal which has been more tender than the one on my breast. Follow their instructions to the letter. Rest as much as possible. I still have a nap most afternoons. It's all so exhausting and I'm done with being superwoman!

    With cancer being such an umbrella term and triple negative label just saying it is not responsive to hormone inhibitors that have been successful in reducing recurrence for 80% of breast cancer people, I have been researching to see what would be the best treatment after an operation.

    Yes so agree with you that it is better to be informed. I've become my own research project!

    Well thats my story so far....I'm feeling very positive and think attitude will help me through.

    Wish you all the best for your op. xx

  • I forgot to add the links I found:

    www.england.nhs.uk/genomics

    www.pubmed.ncbi.nim.nih.gov/31570822

    www.breast-cancer-research.biomedcentral.com/articles/10.1186/s13058-021-01392-0

    www.cancernetwork.com/view/whole-genome-sequencing-could-revolutionise-triple-negative-breast-cancer-diagnosis

    I have also read that if the rate of the cells multiplying can be ascertained then an immunotherapy can interfere with this reproduction to allow chemotherapy to be more affective if the cancer cells are not able to reproduce so quickly and effectively.

    Let me know what you think? Sometimes its about having the right terminology for research?

  • I’m not triple negative but had different cancers in both breasts simultaneously so my team wanted me to have genomic sequencing. Genetics said no, as there is no family history (even though surely someone has to be the first?), but I was able to get on a trial. Came back that I was negative for 14 known germ line defects (inherited), including BRACA  and my tumours, although different, both contained the same genetic spelling mistake commonly found in breast cancers PIK3CA. This gene disables the cell growth off switch.

    This was reassuring that I was simply the victim of bad luck, and my daughters are no more likely to get breast cancer than average.