Additional Genetic testing?
I was wondering if anyone had been called back/completed additional genetic testing?
I was originally diagnosed last February and treated, and I have now been diagnosed with a new cancer in my other breast.
I tested negative for BRCA, but now they are suggesting I have some additional genetic testing. Wondering if anyone else had done this and what kind of info came back?
Thank you!
Comments
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I did not have genetic testing, but my sister did due to her dx at age 28. Initially she had BRCA testing. When I was going through my own treatment and genetic counseling, I was advised that she should also have BRACanalysis Large Rearrangement Testing (BART) - which looks for additional mutations in BRCA1 and 2, and P53 testing which, when there is a mutation detected, can cause Li-Fraumeni syndrome which predisposes the bearer to multiple cancers, including breast cancer. She ultimately tested negative for everything.
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I had a couple of different rounds. They looked at syndromes for ovarian & colon cancer (CHEK2, PTEN) on me before they did BRCA.
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I had BRCA/BART through Myriad (before their patent was struck down) then the Broca panel out of the University of Washington that tests 40 genes. Broca now includes full BRCA testing too (it was their testing that showed Myriad how many false negatives were happening without BART). Search for Broca and you will find my other posts. When you say "they" are suggesting additional testing for you, do you mean a licensed genetic counselor? I hope so. He/she should be able to explain what additional tests they suggest and why. All of my tests came back negative - no mutations found.
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There is a lot of cancer on both sides of my family. Grandmother OvCa died at 56, mother breast cancer survivor, father prostate cancer survivor and the list goes on. Because of that, I recently had additional genetic testing done - the Breast/Ovarian Cancer Panel through Gene Dx . A 'variant of unknown significance' was detected in the BRIP 1 gene which is low to moderate penetrance. I am 54, post menopausal and recently had a hysterectomy (thanks, Tamoxifen) and elective ooph. So far so good - I hope it stays that way!
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