Back in early March (which seems a lifetime ago), I met with a genetics counselor at Penn Medicine. I had blood drawn for testing and have been waiting for the results. Last week I received a call from the counselor with the results of my testing.
The good news is that there was nothing of significance found, only 2 variants of uncertain significance, or VUSs. (I can’t help but think of ROUSs… from Princess Bride… Rodents of Unusual Size!) It is great news for my family to know that there are no genetic mutations being passed on.
If there is to be any down side to this news it was my hope to maybe have an answer as to why cancer would take root in my body on three separate occasions. I knew it was unlikely that anything would be found. There were really no patterns in my family history and I know that only 5-10% of all cancers are due to genetic mutations. That leaves 90-95% due to unhealthy diets and lifestyles and environmental influences.
Without a magic answer, so to speak, I’m left to continue to examine and re-examine all those other influences. Diet, exercise, alcohol intake, stress levels, toxins, and more. As if I haven’t examined that enough in the past 12 years, but I will continue trying to live the healthiest life I can.
For those who might be interested in the VUSs, they are as follows:
APC – associated with colon cancer, which has existed within my family on a limited basis. Also associated with significant numbers of colon polyps, starting at an early age.
BARD1 – has been reviewed for possible links to ovarian and breast cancer. According to recent studies of this gene, along with a few others, it does not appear that this particular gene is a risk factor for ovarian cancer. There is a possible association with increased risk of breast cancer, but any studies have been quite small and without control patients. Additional research is needed on this particular genetic link.
A VUS designation means that there is limited and/or conflicting evidence to suggest the mutation may cause a disease. My counselor said I can check back with them on an annual basis to see if the classification of those two mutations might have changed at all. She indicated that, most of the time, they are usually downgraded over time and additional studies.
Based on these results, no clinical changes are in order.
For those of you who might consider genetic testing, please note that it was super easy, very interesting, and not terribly expensive (in case you end of paying out of pocket).
IMDb: Genetic Me (2014)
lights cancer action! 