Senin, 08 Desember 2014

Sisters Search for Link After Rare Cancer Hits Family Twice

When Carrie Davis's father was diagnosed with a rare brain cancer, her first thought was that it was impossible for lightning to strike twice.


Her grandmother had died of the same cancer 30 years before, but her father's doctor assured her it wasn't genetic.


'He said unequivocally there is not [a link,],' Davis said. She recalled the doctor telling them her family just had 'bad luck.'


Her father and grandmother died of a rare but devastating brain cancer called glioblastoma multiforme. Those diagnosed with glioblastoma multiforme, the most deadly form of glioma cancers, live on average for about 14 to 15 months after diagnosis -- a timeline that has barely expanded despite decades of medical research.


But glioma cancers, including glioblastoma multiforme, were not thought to be hereditary.



Davis was not convinced. So she and her sister started to look for researchers studying glioma cancers to see if anyone could prove there was a link.


'We obviously had a personal stake in this, we had my dad's DNA,' Davis said. 'We both had small children. We refuse to accept the premise that lightening would strike twice in our family.'


Davis and her sister, Hadley Rierson, found Dr. Melissa Bondy, the associate director of cancer prevention and population services at the Baylor College of Medicine. Bondy has studied gliomas for 30 years and was in the middle of a project looking for signs that they could be more prevalent among certain families.


Davis sent Bondy an email out of the blue, praying it wouldn't go unanswered.


'I said 'This is a cold call. I've had two members of my family, my dad and grandmother have glioblastoma multiforme,' remembered Davis. 'She wrote me right back, and my sister and I got on the phone with her.'


For the first time, Davis and her sister had hope that their hunch was correct.


'[Bondy] helps us understand the very complicated genetic parts of this,' Davis said. 'She has a brilliant way of making very complicated things plain.'


Bondy had been working on a study as the principal investigator of the Gliogene Consortium, a group of brain tumor researchers from around the world primarily funded by the National Cancer Institute. The study focused on finding families with multiple members fighting the disease to see if there was a common genetic component.


This week, the results of Bondy's study were published in the Journal of National Cancer Institute. The study's findings point to a specific genetic mutation that could be related to an increased risk of developing certain glioma cancers.


'I have been researching familial glioma for nearly 30 years, and this study is really the first time we have had a hit when it comes to identifying a gene that is potentially associated with predisposition to the disease,' Bondy said.


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