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Mystery Families and MRIs

September 24, 2019

Mystery Families and MRIs

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.

Posted in: XRAY
Tags: Mystery Families , No Known Mutation


October 2, 2019

Valerie says:
I am also part of a mystery family. In my generation, I was diagnosed with breast cancer at age 39. My mother at age 43, and one of her two sisters twice, at 47 and 77. Their maternal grandmother, my great -grandmother, was diagnosed at age 43. In these four generations, there are eight women; half have had early breast cancer. I too have been tested for every possible mutation, but nothing has been identified yet. Stay vigilant, and ask for MRIs and ultrasounds. I was told for many years that when I asked for a mammogram that I was too young and my breasts were too dense. By the time I had a mammogram, I had a 4.5 cm tumor.


September 25, 2019

Marcia says:
I too am part of a “Mystery Family”. However,I was Dx’d w/BC along with Mom (2X) 3 Aunts, 2 cousins. Be vigilant with your screening. Marcia


September 24, 2019

Judi Norman says:
MRI detected my breast cancer that recent mammogram did not. I was told MRI optional. So glad I was my own advocate! Both are needed for at risk populations.


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