5/14/25

Germline Mutations: Illustrating the Cycle of Hereditary Cancer in Families

GERMLINE MUTATIONS INFOGRAPHIC Illustrating the Cycle of Hereditary Cancer in Families        Found in every cell in your body, your genes control how your body looks, grows, and functions. You have two copies of every gene. You inherited one copy of every gene you have from your mother and another copy from your father. Among the thousands of genes that you inherited are genes that help prevent tumors and cancers from forming. These are called tumor suppressor genes.        Germline mutations are genetic changes that are present in genes in sperm or eggs (germ cells) at the time of conception. Some germline mutations in tumor suppressor genes can increase the risk for developing hereditary cancer. Genetic testing looks for changes in tumor suppression genes that have been linked to hereditary cancer. These particular inherited genetic changes are called pathogenic germline mutations.            It is estimated that 1 in 279 people carry pathogenic germline mutations that may increase their risk of cancer.       Knowledge is power. Learning if you have an increased risk of cancer because of an inherited genetic mutation can help you take steps to detect cancer at an earlier, more treatable stage or prevent some cancers from ever developing. 

After my late wife was diagnosed with hereditary cancer, I quickly learned that trying to explain germline mutations and genetic inheritance to anyone who cared enough to ask questions was not an easy task. Especially since it seemed like a lot of people lacked a basic understanding of biology.

Now that I’m a hereditary cancer awareness and prevention advocate, I try to use my extensive illustration and editorial experience to create infographics that introduce and explain genetic mutations and hereditary cancer on a basic level. I hope it makes it a little easier to understand a very complex subject. And I hope it encourages more genetic counseling and testing and helps save some lives as well.

This graphic can be downloaded at: www.genetionary.org/resources. Please pass it along.