Genetic results

Negative for BRCA 1 & 2... *HUGE SIGH OF RELIEF*

I will proceed with my scheduled lumpectomy on June 1st and six weeks of radiation will follow. Here is a great read that might help explain why I have chosen this treatment plan when it seems like the trend is to opt for a dbl mastectomy "to be safe": Aggressive Treatment Does Not Mean Better Treatment.

Back to my genetic results. I was tested for 29 different gene mutations and all but one was negative. One gene, PALB2 came back as a "variant of uncertain significance" -- but that just means it's neither negative nor positive. There might be something going on... there might not be. PALB2 is associated with breast, ovarian, & pancreatic cancer. It wouldn't explain my sarcoma or melanoma at all... but could be associated with my IDC? Hopefully not, but there is really no way of knowing right now.

Here is what current research says about this particular finding:

If your patient’s result is “Genetic Variant of Uncertain Significance” in PALB2 it means that a change, or alteration, was detected in the gene but it is not known if this change confers an increased risk of cancer. Since the clinical significance of the variant has not been determined, cancer risks for an individual found to have a variant of uncertain significance should be estimated based on his/her personal and family history of cancer. The individual’s cancer risks could be increased due to 1) other non-hereditary factors (e.g. environment and/or lifestyle), 2) other genes, or 3) a mutation in PALB2 that current technology cannot detect.