by Piri Welcsh
What is a ‘mystery family’ you may be thinking. I guess you could define a mystery family in many ways. Maybe it’s family with a mysterious past? A family who doesn’t know its origins or history? Or, maybe a family with a secret?
For me, a mystery family is a family with a lot of breast cancer but no known mutation. I am a member of a mystery family. Our mystery is hidden in our DNA. Here is my family’s mystery:
That’s me (open arrow). Every woman in my family who has had breast cancer has their circle filled. My mother is a two-time breast cancer survivor (filled arrow). That’s 6 cases of breast cancer.
Any genetic counselor looking at my family’s breast cancer history would immediately recommend genetic testing. And believe me, we have had the best. We are one of the many mystery families studied in Dr. Mary-Claire King’s lab. We have been screened numerous times for all known breast cancer genes. Nothing. Some of us have had extensive genomic screening with the latest technologies. Still nothing. We do not have a mutation in any known breast cancer gene. We do not have an explanation of the genetic mystery traveling through our family.
Unlike a family with a BRCA, PALB2 or other mutation for which there are preventative options, all that is recommended for mystery families like mine is increased screening. That is why I was excited to read the recent XRAYS review “MRI or mammograms for detecting breast cancer in families with unknown genetic mutations?” The results of the research covered in this XRAYS show that increased screening with an annual breast MRI is beneficial. MRIs detected breast cancers at earlier stages than mammography.
My circle isn’t filled in-yet. Hopefully, if it ever is, all those breast MRIs (which I hate by the way) will be worth it.