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Old 10-28-2017, 09:40 AM   #14
Joan M
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Join Date: Oct 2007
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Re: Decisions, decisions

Thanks, Steph, for your reply. It will be interesting to see how well I feel now that I've stopped H.

One of my concerns is about a mutation that was discovered with my Guardant Health 360 liquid biopsy for breast cancer. I mentioned the test above. It was free through Medicare.

My assay showed four sub-variations of TP53 (same as p53), which I compared to the recently released data from the MBC Project.

That project showed the occurrence of TP53 sub-variants. The variant R273C was shown, but not the variant I have, which is R273H. None of my other three TP53 sub-variations were shown in the MBC Project data.

TP53 was at the top of the list of mutations in the MBC Project data, followed by PIK3CA, as having the most mutations. TP53 is a tumor suppressor gene under normal circumstances, and when mutated it can lose that function.

However, in looking into it further online, I found that both of the sub-variations noted are actually gain-of-function mutations, meaning that they actively PROMOTE cancer development, not just lose the ability to suppress the development of tumors.

I had no other mutations or alterations, such as HER2, PI3KCA, mTOR, etc., which are normally associated with breast cancer.

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!!
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