5/3/23

What is a Germline Mutation?

Download the PDF here

When I talk or write about hereditary cancer as an advocate, I often mention "germline" when referring to mutations that can cause cancer. But I’ve come to realize that many people don’t seem to know what I’m talking about. So I created this graphic about germline mutations and had it reviewed by a certified genetic counselor. (Thank you, Emily Goldberg, MS, CGC, at JScreen.org!)


Tragically, it's because of the lack of basic understanding of genetics, even among some health care professionals, that I’m now a widower.

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Read my story about this graphic at CureToday.com
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One germline mutation, a broken BRCA2 gene, that I can now recite by heart, has caused several different cancers and numerous cancer deaths in my late wife’s family. The same BRCA2 mutation has been passed down in my wife’s family for at least four generations. And it might have already been passed to the fifth generation.

But now that the specific mutation has been identified, the cycle of cancer can be broken. That’s why genetic knowledge, genetic testing, and the sharing of family health information are so important.

What is in your germline?




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