What is a Germline Mutation?

What does “germline” mean? In simple terms, germline means  the DNA that you inherit at conception. Germline mutations are broken parts of certain genes that you may inherit at conception. Some germline mutations might put you at risk for developing cancer. Here’s an example using a BRCA2 gene mutation. Keep in mind that there are many other genetic mutations that may increase the risk of cancer, like BRCA1, CHEK2, PALB2, MLH1, MSH2, MSH6, CDKN2A,  ATM, etc.
Click on the image to download the PDF.

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 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.

One 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 (c.3545_****delTT) 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?

This graphic can be downloaded at: http://www.markix.net/germline

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