Sean Tavtigian felt incredible as he raced to work one brisk Monday morning in December 1995. He had spent the weekend conducting experiments and staring at a computer screen in his laboratory at Myriad Genetics, a genetic diagnostics company in Salt Lake City, Utah. Scientists at Myriad were competing in a race to discover the sequences of two genes, BRCA1 and BRCA2, that reveal a woman’s risk of hereditary breast and ovarian cancer. That morning, Tavtigian knew that he could solve the final piece of the puzzle just in time to win Myriad the rights over both genes.
One year earlier, in 1994, Tavtigian and a team of scientists from Myriad and several universities had discovered BRCA1’s genetic sequence along with several mutations that can occur within it. A normal copy of the gene fights tumors, whereas women with a mutated version lack its protection—they have up to an 85% chance of developing breast cancer over the course of their lifetime, compared to a 12.7% chance in the general population. If women with the mutations could be identified before cancer set in, they might opt to lower their risk with preventative surgery. Researchers at the University of California, Berkeley had been the first to locate BRCA1 in the genome in 1990, and in 1991, a French team linked BRCA1 to ovarian cancer as well.
The whirlwind of discoveries continued with BRCA2. In 1994, a British team pinpointed its position in the genome. They planned soon after to publish the final element—the sequence of BRCA2.
“The U.K. team clearly had a piece of BRCA2 before anyone else,” Tavtigian says. They had filed a patent on the gene to the European Commission, and a premier science journal, Nature, had agreed to publish their results within a couple of weeks. When Tavtigian got wind of the plans, he sprung into action. To get the patent on BRCA2 in the United States, Myriad needed to post a sequence online before the British team’s publication went live.
By the Saturday before the paper came out, Tavtigian and his team had isolated four strands of DNA that he suspected could be strung together to form BRCA2. One strand contained a sequence that instructs other molecules to translate the DNA that follows into a protein. Another fragment included a sequence that signals the end of a gene. These pieces were like the cab and caboose of a train, while the two other fragments represented the boxcars in between. Tavtigian had the fragments, but he did not know how they linked to one another.
On Sunday, while Tavtigian stared at the data on his computer screen, something clicked. He had it. The next morning, Tavtigian recalls, he raced to work and informed his colleagues. “I told them that we could have a complete sequence in GenBank and a patent application filed in the U.S. before the U.K. team publishes their paper on Thursday.” If they did that, they’d have a good shot at being awarded the patents.
Written By: Amy Maxmen continue to source article at pbs.org