Genetic testing BRCA Negative, Tumor BRCA+

Hi Everyone!

I have a very close friend who was diagnosed 2 years ago. She had testing to see if she was BRCA positive, she was not. She went through debulking surgery and 6 rounds Carbo/Taxol. She was deemed NED. She had a recurrence in abdominal lymph nodes earlier this year. They decided to surgically remove, chemo again carbo/gemzar (too much neuropathy from Taxol). This time she was told that the lymph nodes removed tested positive for BRCA. Has anyone ever heard of this before?

5 Replies

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  • Yes...I've heard that a tumour can be BRCA and also that you can spontaneously develop BRCA...I'm sure there's much more to discover about this genetic fault xx

  • Yes, it is possible for you to be BRCA negative but for the tumour itself to be positive. I am negative but my oncologist says it is an option to have my original tumour (now sitting in a jar in a lab somewhere!) tested because if it is positive it would mean I could be treated with a PARP inhibitor.

  • yes....my second opinion oncologist made sure the tumour itself was tested....C

  • The distinction is between (as I understand it) what's inherent to you: "germ-line", present all the time and everywhere, and "somatic" in the tumour....sometimes oncologists forget we don't speak their language! I'm negative for both, even though I behave as if I should be.....

    It does open up more treatment possibilities.

  • Blood is called germline mutation and tumour is somatic. Its rare but not too rare.

    Also some tumour without any mutation can behave like they have it. So they are called brca-like!

    I think good for your friend that her kids arnt at risk of inheriting it but I'm not sure how it handled in terms of family history.

    Hope it helps...

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