Anyone have SNPs (increased genetic risk for invasive BC)
Is anyone here familiar with genome sequencing and in particular, SNPs as a genetic mutation that heightens risk for BC? I am a participant in the Wisdom Study (US) and was just informed that after running approx a 200 "string" DNA panel, my polygenic risk score places me in a high risk category for invasive BC (DCIS diagnoses are excluded from their predictive modeling).
I was further told that my polygenic risk score (PRS) combined with the standard BCSC score puts my Lifetime Risk of Invasive Breast Cancer at *54/100!! (The average is 11/100). This does NOT take into consideration lifestyle factors (BMI, alcohol usage, exercise, smoking etc). I was told by the research consultant who called my (who is an M.D.--this is a very highly regarded research studied run by the "best of the best" in the field) that any lifestyle factors were "infinitesimal" compared with my absolute genetic risk (which is comparable to having the BRCA1 gene).
The following recommendations were given: alternate yearly mammos with MRIs, and what honestly sounded to me like a heavy sales pitch for taking Tamoxifen as chemoprevention for 5 yrs.! I don't know what to make of this and I'm freaking out!! I wish I had never agreed to participate in the research study
I am not handling this news well and wish I didn't know it and now I can never "unknow" what I've been told.
Am I crazy for thinking this is crazy???!!
I was diagnosed in 2009 with ADH/borderline DCIS (pathology said contained many features of micropapillary DCIS but not all). I was lucky I "only" had to have a stereotactic bx followed by wide excisional bx. Fast forward to 2018: new cluster of microcalcs found on mammo, same breast, different quadrant. Rather than hopping back on the "screen and sample, screen and sample" merry-go-round, I opted for active surveillance (I promised myself after the trauma of the first stereotactic biopsy that I didn't care what I had--I would NEVER do that again). 3 follow-up mammos since 2018 all indicate the lesion is "stable"--absolutely no change. Now in light of my new genetic info, I am questioning all my decisions! Add in all the complexities of being told this during the middle of a pandemic when "routine" care isn't even available in my area, and I'm just at a loss. Anyone else out there that received genetic test results that were completely unexpected who's willing to share how you navigated these complicated decision trees?
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