Positive for mutation

roxy42

Positive for mutation

roxy42

Hi ladys,I have 5 days left until radiation is over and then I take tomoxifene.I'm Pre-menopausal 42 years old.I had a lumpectomy and 6 months of kemo.I have tested positive for the P53 gene and High ki 67.I have read that tomoxifene dosent work well.I'm having my overies out in three months.I'm high for reacurance.I wanted a masectomy but Dr talked me out of it.He said Lumpectomy and radiation is equal to masectomy.Sence testing positive for the p53 gene I wonder if having a masectomy would make a diffrence in my future.Any advice would be great.....godbless roxy

TenderIsOurMight

Dearest Roxy,



You are nearing the end of Rads with fortitude of body per your description, and inquiring of mind per your post: both bode so well for you along your breast cancer journey.



You raise valid questions regarding two of your tumor's specific markers: the ki67 (cell proliferation) and mutation of the p53 gene ( a cell "stress" detection gene). Yet the experts themselves caution us not to read into any one or two specific markers/genes too much, as it takes a village to describe one's picture more fully.



This village to date may best demonstrated by the Oncotype DX, which until now has been used for node negative breast cancer. I understand since your situation involved a node, this test was mostlikely not run. Recently, some experts have noted it may help in node positive breast cancer too, as it provides a 21 factor analysis. Matthew Ellis, in a recent Journal of NCI editorial states of this test :



" When compared with the positive results obtained by Paik et al. (3) with the 21-gene recurrence score assay, which was able to identify a group of high-risk, node-

negative, hormone receptor– positive patients who differentially experienced benefit from CMF, the results reported by Viale et al. ( 1 )serve to emphasize the point that predicting chemotherapy sensitivity in the hormone receptor – positive subgroup requires an assay that integrates more biologic parameters than just the baseline rate of cell cycle progression". (Edit: the ki67 suggest cell cycle progression).



As to your question of would a full mastectomy in light of a mutated p53 gene (hence a cranked up stress gene more than a calm, behind the scene one of low stress) well this is a question for a breast cancer expert. It's a valid question, and if your doctor won't give you an answer, you might appeal to your HMO/Primus to allow you, on the basis of these marker/gene studies. to travel to a Comprehensive or University based Cancer Center. I'd just type of a letter requesting formal breast expert consultation and submit it to the committee along with your pathology sheet. Even your HMO/Primus allowing a telephone consultation/review may be helpful to ease your valid questions with valid answers.



So, where does this leave you Roxy?



Well, your therapy is nearing its end, aside from hormonal therapy for the high estrogen receptor status. I can't recall whether you do or do not have PR receptors? But having high estrogen receptor status clearly puts you in the captains seat in a positive way. You already are pushing for the oophorectomies which will allow an AI, or aromatase inhibitor, which have been shown to slightly improve disease free recurrence, and one (Letrozole) to be shown to increase Long Term disease free recurrence. So, in the end, beg, plead, and .... well, beg again for Letrozole just because of your specific circumstances.



In the short term, do everything you can to hurry up the surgery: make sure your part of the paper work is done, appeal if necessary by letter the information as provided above and why it may be beneficial to you to have your surgery sooner than 3 months, and hey, what it would it be without me putting in a plug for immediate testing of your ability to even metabolize Tamoxifen into it's active drug: endoxifen. This is done by simple blood or cheek swab on your own DNA, and sent of to a lab like Mayo, or LabCorp or DNA direct, and is called the CYP2D6 gene analysis. You can pm me for more on this, or look under the hormonal threads where there has been lots of discussion about it. It cost's about $300.



Geez, this is too long an answer. But I applaud your approach and true grit determination Roxy. Perhaps that's the best answer in and of itself. Don't let the breast cancer (or other) beat you down. Knowledge is power, and you ask hard questions.



Where are you located by the way? Indiana? There's some great research coming out of the University of Indiana, as elsewhere. It helps to know to give help.



And that's what we're here for!

Tender