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Gene responsible for hereditary cancer syndrome found to disrupt critical growth-regulating pathway
Date:11/4/2013

ole in the cell. In the early 2000s, scientists determined that mutations in the gene coding for FLCN caused the rare cancer Birt-Hogg-Dub syndrome, but the syndrome's symptoms offered little insight into FLCN's molecular function.

Birt-Hogg-Dub syndrome causes unsightly but benign hair follicle tumors on the face, benign tumors in the lungs that can lead to collapsed lungs, and kidney cancer. The syndrome is an autosomal dominant disorder, which means that a child inheriting one mutated copy of the FLCN gene will eventually develop the syndrome. Currently, the disease is managed by treating symptoms, but no cure exists.

FLCN's dual rolesas a cause of a rare cancer in its mutated form and as a trigger for a growth pathway that is often hijacked in cancer cellshas prompted Tsun and Sabatini to rethink how a mutation can push cells to become cancerous.

"Basically, the mTORC1 pathway is essential for life," explains Tsun. "So when you lose this nutrient switch or if it can't be turned on, then the cell seems to freak out and cause all other growth promoting pathways to be turned on to somehow overcompensate for this loss. And this is actually what we see in patient tumors."

For Birt-Hogg-Dub syndrome patients and their families, better understanding of FCLN's function moves the field one step closer to developing a therapy.

"Usually diseases are first described, then the responsible gene or genes are identified, and then that gene's molecular function is figured out," says Tsun. "And you need to know the gene's function before you can start working on drugs or therapy. We've done that third step, which is a very important discovery for these patients."


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Contact: Nicole Rura
rura@wi.mit.edu
617-258-6851
Whitehead Institute for Biomedical Research
Source:Eurekalert

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