Variant Gene In Greensboro Woman Identified

Andrew Berchuck, MDAndrew Berchuck, MDOn Thursday, May 22, Andrew Berchuck, MD, director of Gynecologic Oncology, sat down with Bob Buckley, WGHP-TV, to discuss an international research collaboration which last year identified a genetic mutation making certain women susceptible to a very rare type of ovarian cancer.

The cause of small cell ovarian cancer, hypercalcemic type (SCCOHT), an extremely aggressive and often lethal cancer affecting girls and young women, was published March 23 in the journal, Nature Genetics. The international research team discovered a mutated gene, called SMARCA4, to be the culprit triggering this rare form of ovarian cancer.

“This research revealed that the mutations are depriving cells of BRG1, a protein encoded by the SMARCA4 gene,” shared Berchuck. “The study also revealed that some SMARCA4 mutations can be inherited, resulting in familial clustering of SCCOHT. This significant discovery can be the key to prevention.”

In 2013 the study’s lead, William D. Foulkes, M.B., Ph.D, of McGill University, in Montreal, Canada, contacted Rebecca Morris, who lives in Greensboro. He had heard of her family’s history of small cell ovarian cancer. In 2000, Morris’s then 24-year-old sisters, identical twins, were both diagnosed with small cell ovarian cancer. One died within five months of her diagnosis. The other passed away three years later, at the age of 27. Since that time, others in Morris’s family have also been diagnosed with cancer. In November, Foulkes invited Morris, 33, to undergo genetic testing for the SMARCA4 gene. After genetic counseling at Duke University Medical Center, she was told she had a 50 percent chance of having inherited the same mutation as her twin sisters.

[pullquote align="right|center|left" textalign="left|center|right" width="30%"]"Science has given me choices--lifesaving choices my sisters never had. . ."[/pullquote]

Genetic testing showed Morris did in fact carry the harmful mutated SMARCA4 gene. Morris learned she was at high risk of developing aggressive ovarian cancer. Under the care of Berchuck, Morris, who has three sons, decided in December 2013 to undergo prophylactic, or risk-reducing, surgery to remove her ovaries and fallopian tubes. Morris’s decision makes her the first person in the world to opt for prophylactic surgery because of testing positive for a SMARCA4 mutation.

“This important research means everything to me,” said Morris, who now undergoes hormone therapy to replace estrogen once produced by her ovaries. Science has given me choices—lifesaving choices my sisters never had available to them. I want to do anything I can to spread the word about genetic testing now available for identifying this mutant gene. When it comes to our health, we all deserve to have choices.”

Buckley’s interview with Berchuck will air on FOX network affiliates, both locally and nationally. For more information on Andrew Berchuck, M.D., and his research work, visit Duke Medicine.


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