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Old 02-12-2013, 08:34 AM   #4
Joan M
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Join Date: Oct 2007
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Re: Tumor Profiling Lab Tests

Hey Rhondaleah,

It was great meeting you at SABCS.

I would agree that the top onc is wrong for now, but not for the future. However, the future isn't here yet and that's the point.

I guess my argument is that knowing today whether I have a genetic mutation on CHEK2, for example, has cost me a lot of money but it doesn't really get me anywhere.

Perhaps, and that's a big perhaps, City of Hope has a clinical trial for survivors who have that mutation. That is, they're testing a compound for dealing with CHEK2 mutations (CHEK2 is a checkpoint in the cell cycle that's involved in cell cycle arrest and therefore allows only well-behaved cells to proceed in the cycle). But somehow I doubt that. Or perhaps they have a phase 1 trial. When I was first diagnosed at stage 4, I used to bring clinical trial enrollment papers to my onc and she would say, "you're not phase 1 material," even though I guess she was supposed to encourage me to enroll in clinical trials.

You said, "and maybe they'll know how to fix it." Maybe, is the issue. At this point, molecular biologists have little idea of how to fix these mutations which would result in meaningful treatments, even though they're working hard on it. So, these expensive tests really don't serve us now. If I submitted my tumor to the $2,350 breast-17-gene panel, by the time there's a potential treatment for any one of these mutations, there would be a companion diagnostic test, like for HER2, and the expensive gene panel would be useless. Nobody's going to use the results of that gene panel. Survivors would be tested with the diagnostic to determine whether we have the mutation and then enrolled in clinical trials. In the end, we would all be tested for CHEK2 just like we were for ER/PR and HER2.

I don't think it's prime time yet for gene panels, and women like me who have metastatic disease are being duped into thinking that we're going to get something meaningful out of it. We're being taken advantage of.

A breast cancer advocate expressed this well. A slightly different version of what I posted above was uploaded yesterday on a blog and then the advocate who works for the NBCC picked it up on Twitter.

She wrote: A major genomic researcher told me the tests were "unethical." ... Ur thoughts abt new tumor profiling n bc?

The blog then responded.

Then she wrote: Yes, I saw that, not the same person I spoke with. So looks like several researchers have reservations.

An ovarian cancer advocate then responded to her: Good point. Will knowing you have a tp53 mutation change your treatment plan? Research needs to catch up with the data.

Joan
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Diagnosed stage 2b in July 2003 (2.3 cm, HER2+, ER-/PR-, 7+ nodes). Treated with mastectomy (with immediate DIEP flap reconstruction), AC + T/Herceptin (off label). Cancer advanced to lung in Jan. 2007 (1 cm nodule). Started Herceptin every 3 weeks. Lung wedge resection April 2007. Cancer recurred in lung April 2008. RFA of lung in August 2008. 2nd annual brain MRI in Oct. 2008 discovered 2.6 cm cystic tumor in left frontal lobe. Craniotomy Oct. 2008 (ER-/PR-/HER2-) followed by targeted radiation (IMRT). Coughing up blood Feb. 2009. Thoractomy July 2009 to cut out fungal ball of common soil fungus (aspergillus) that grew in the RFA cavity (most likely inhaled while gardening). No cancer, only fungus. Removal of tiny melanoma from upper left arm, plus sentinel lymph node biopsy in Feb. 2016. Guardant Health liquid biopsy in Feb. 2016 showed mutations in 4 subtypes of TP53. Repeat of Guardant Health biopsy in Jana. 2021 showed 3 TP53 mutations, BRCA1 mutation and CHEK2 mutation. Invitae genetic testing showed negative for all of these. Living with MBC since 2007. Stopped Herceptin Hylecta (injection) treatment in March 2020. Recent 2021 annual CT of chest, abdomen and pelvis and annual brain MRI showed NED. Praying for NED forever!!

Last edited by Joan M; 02-12-2013 at 08:38 AM..
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