Answers and more questions . . .

After a long wait, I’ve received a full report from Gene Dx, the lab that conducted my genetic tests. While my genetic counselor at UAB called me a couple of weeks ago with preliminary findings, she encouraged me to wait on the completed report for a better understanding of what was discovered.

Turns out, I don’t test positive for either BRCA1 or BRCA2, or most of the other 18 markers identifiable in the particular panel used for testing my DNA. The exception is a variant of (currently) uncertain significance on the MUTYH gene. In other words, my results fall into the category of “there’s a mutation, but we’re not sure what it means.” Great.

To be fair, a variant on MUTYH isn’t completely unheard of. Scientists know that it an inherited autosomal recessive gene, so mutations in both copies of the gene are needed to significantly increase cancer risk. On that front, I guess I’m lucky that a variant of only one copy appeared.

Some studies report an associated increase in colon polyps with this particular mutation, up to 100+ polyps co-occurring. Others suggest an increase in other cancer types, including breast and colon. Another report I read suggests a link to skin cancer as well. There are lots of speculative and tentative claims about what a variant of MUTYH might or might not mean.

The upshot? The geneticist who prepared the report indicates that because my two bouts with breast cancer could be linked to the MUTYH finding or completely unrelated, I and my offspring should be diligent in screening for cancer given our family history.

Yep, that was the plan all along.


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