Abramson Cancer Center
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Partners in Hope

How a Pair of Genes Can Change a Life: Living with Muir-Torre Syndrome

“Muir-Torre is a hiccup in my genetic repair cells that creates a high risk of many types of cancer. But ironically, this genetic mutation also saved my life.” -Julia*, cancer survivor

Julia’s cancer journey began in June 2009 when, at the age of 29, she was diagnosed with uterine cancer—a disease her mother Jane* battled and won years before. At the time of Julia’s diagnosis, Jane discovered she had Muir-Torre syndrome—a form of Lynch syndrome—an extremely rare genetic disease that makes its victims highly susceptible to cancer.

Further testing showed that Julia carried the MSH2 mutation, one of the two genes linked to Muir-Torre syndrome.  

Julia found hope and answers about her rare genetic mutation at the Abramson Cancer Center’s Gastrointestinal Cancer Risk Evaluation Program from Dr. Anil Rustgi, who identified her mutation and created a preventive care regimen, and from Dr. Steven Fakharzadeh, a genetic skin disorder specialist who monitors her skin for mutations that can occur with Muir-Torre syndrome.

Julia’s story didn’t end there. Read more on our blog.

To learn more about or to support research into Muir-Torre syndrome, contact Katie Dewees-Detzel at kdewees@upenn.edu or (215) 746-1927.

*Pseudonyms

Reiki: Helping to Relieve Cancer Patients

Research led by Dr. Jun Mao and colleagues has shown that reiki induces relaxation, decreasing anxiety, stress and a cancer patient’s perception of pain.

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Generosity Fuels Hope for BRCA

Basser Research Center for BRCA founders Mindy and Jon Gray recently made an additional $5 million gift to support BRCA-related pancreatic cancer research and launch an external grants program to help advance BRCA-related research around the globe.

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Promise of the Roberts Proton Therapy Center

Dr. James Metz discusses treating cancer with proton therapy on FOX 29's Good Morning Philadelphia, helping to educate the public about advances in research and care.

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Penn Doctor Creating Breast Cancer Vaccine

Dr. Brian J. Czerniecki shared promising results of his ongoing, personalized breast cancer vaccine trials for women with DCIS. Two patients also shared their experience in this FOX 29 story.

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Young Friends of the Abramson Cancer Center Wine, Beer, & Vodka Tasting at R2L

This Thursday, March 6th!
6:00 p.m. – 8:00 p.m.

Join the Young Friends of the ACC for an evening of wine, beer, and vodka tastings paired with delectable food from R2L Chef Daniel Stern. Enjoy spectacular views of Philadelphia from R2L, network with friends, learn about the latest cocktail and cuisine trends from experts, and hear from young scientists about their innovative research - all while supporting a good cause.

Click here to register.

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