Genetic testing for cancer: A mother's gift to her family

Written by  Facing Cancer Together
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Kristin Gilhool and Marc Hirschler inherited a lot from their mother…bright smiles and a zest for life.  But, they also inherited a heightened risk for cancer.

genetics-reenieTheir mother, Reenie Hirschler, was diagnosed with breast cancer in 1994.  She was then diagnosed in 2008 with ovarian cancer. She also had skin cancer as well.  Reenie insisted on having her kids tested to see if they had inherited the mutated BRCA2 gene from her.

Lancaster General Health genetic counselor, Erin Sutcliffe, says that a properly-functioning BRCA2 gene will prevent a tumor from overgrowing which can lead to malignant cell growth and cancer.  When there is a mutation in this BRCA2 gene, the cell growth is not functioning as it should, heightening the risk for cancer.

DNA is isolated from a blood or saliva sample to test for abnormalities in gene makeup.

Both Kristen and Marc tested positive for the BRCA2 gene mutation, putting them and their children at greater risk for breast, ovarian and prostate cancer.

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Kristin was proactive after finding out this news and decided to have her ovaries removed.  She decided to keep her breasts, but has appointments every 6 months for an MRI and mammogram, so that they can catch a cancer early enough then will decide to have them removed.

Marc is now screened more often then the average person for breast cancer, prostate cancer, and skin cancer.  But he is grateful to his mom for having him tested, saying, “I can only say to my mom, thank you… and I’m very lucky.”

Reenie passed away in March 2011, but left behind a gift that may save the lives of her children and generations to come. 
Kristen says, “My mom saved my life and possibly the lives of my children and grandchildren.”

You can read more about Reenie's story and the legacy she left her family in this article, "For the Next Generations,"  published in Central PA Magazine.

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