OHSU scientists uncover key protein for Fanconi anemia, cancer susc...( anconi protein with a recognizable cata...)

anconi protein with a recognizable catalytic function," Hoatlin said. Unlike the majority of other Fanconi proteins, PHF9 has easily recognizable functional domains that should accelerate research aimed at understanding the function of the FA protein network, particularly in the maintenance of a stable genome, the "hard drive" of the cell where genetic information is stored.

Fanconi anemia is a rare, genetic cancer-susceptibility syndrome. When both parents carry a defective or mutated FA gene, children are at increased risk of developing the disorder, which can lead to birth defects, bone marrow failure and increased incidence of cancer, including leukemias and solid tumors. In addition, there is a growing appreciation among scientists that the FA pathway is integrated with the breast-ovarian cancer-susceptibility pathway.

Scientists estimate that the worldwide carrier frequency for Fanconi anemia is between 1 in 600 and 1 in 100, according to the nonprofit foundation Fanconi Anemia Research Fund Inc.

Dave Frohnmayer, who with his wife, Lynn, formed the Fanconi Anemia Research Fund after losing two daughters to the disease in the 1990s, called the PHF9 isolation study "a major discovery." He said it will thrust FA research into the mainstream of science, and its results have the potential to benefit not just dozens, but millions of people.

"This discovery has worldwide significance," said Frohnmayer, president of the University of Oregon in Eugene. "From day one, Oregon Health & Science University has been on the ground floor of Fanconi anemia research, so this is yet another welcome discovery by outstanding scientists."

The Fanconi Anemia Research Fund, as well as the National Institutes of Health, funded portions of the Oregon PHF9 work.

Frohnmayer has seen the number of FA studies increase dramatically in the last two years as more and more people discover that it is not just a rare, orphan disease. The PHF9 projec
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Contact: Jonathan Modie
modiej@ohsu.edu
503-494-8231
Oregon Health & Science University
14-Sep-2003

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