- Mary-Claire King, a geneticist and professor at the University of Washington, was behind a discovery that changed the way we think about cancer.
- Her work in discovering the BRCA1 gene that’s associated with breast and ovarian cancer came after decades of research during her more than 40-year career.
- In the past few years, the impact of her work has started to be felt by the world as cancer genetic testing becomes more widespread.
You might not know the name Mary-Claire King, but you probably know this scientist’s most famous discovery: the BRCA1 gene that’s been critical in fighting breast and ovarian cancer.
A geneticist at the University of Washington, King has spent her 40-year career working to better understand human genetics, especially the codes that make up all of us. Her discoveries helped open entire areas of medicine. But it wasn’t until the past few years that the effects of her work started to be widely recognised publicly, sparked in part by actor Angelina Jolie’s revelation that she had the “faulty” BRCA1 gene, increasing her risk of cancer.
In 2014, King received a prestigious Lasker award for her work in breast cancer genetics as well as human rights, and in 2016 President Barack Obama acknowledged her work with the the National Medal of Science.
“At a time when most scientists believed that cancer was caused by viruses, she relentlessly pursued her hunch that certain cancers were linked to inherited genetic mutations,” Obama said at the ceremony. “This self-described ‘stubborn’ scientist kept going until she proved herself right.”
King’s initial work in genetics for her doctoral thesis in 1975 was the discovery that humans and chimpanzees are 99% genetically similar. Later, she analysed DNA from grandmothers to help reconnect them with their grandchildren who had been kidnapped as part of Argentina’s “dirty war.” She was also active during the Civil Rights Movement.
“As a scientist, one is a citizen of the world. And as a citizen of the world, you have certain responsibilities” King said of her activism in an interview with the World Science Festival.
Arguably, King’s biggest impact resulted from her work pinpointing BRCA1, a gene that’s critical in producing proteins that repair damaged DNA.
What we know now, based on King’s research, is that mutations in the BRCA gene have big implications for a person’s cancer risk. The risk of getting breast cancer goes from 7% to an average of 55-65% when you have the BRCA1 or 2 gene mutation, while for ovarian cancer the risk increases from 1% to 30%. Knowing you have one of these genetic tweaks, then, could help doctors make more proactive decisions to treat.
Discovering the genetics of cancer
Back when King started her work in the 1970s, the link between cancer and genetics hadn’t been made. The running theory at the time was that cancer was viral.
“I thought genetics, evolutionary biology and statistics might add something to the newly launched War on Cancer. And my closest childhood friend had died of cancer. I wanted to try,” she told The New York Times in 2015.
Getting a chance to start that research wasn’t easy either. On the week leading up to King getting a grant for her research back in April 1981, her husband left her, her house was burgled, and she had a chance encounter with baseball legend Joe DiMaggio.
Here’s her re-telling of the week leading up to her presentation at the National Institutes of Health, which led to the grant.
Finally, after years of figuring out just how genetics and family histories of cancer played a role in cancer risk, in 1990, King found the gene linked to breast cancer, BRCA1. After that, there was a race to see who could clone the gene, a move which helped researchers better understand how mutations in the gene led to cancer.
Now, doctors are able to give tests to their patients who might have a family history of cancer, to see if they might be at an increased risk based on BRCA and other mutations that have since been linked to various forms of cancer.
A lasting impact
Colour Genomics CEO Othman Laraki told Business Insider that King is someone who has a “North Pole,” which helps her look at data with clear logic. Colour sells hereditary cancer — including BRCA1 and 2 and high cholesterol tests — and works with King, who serves as a collaborator and adviser to the company. Working with her, Laraki said, made sense because of her history in working to establish the connection between cancer and genetics, but also to bring that connection to people.
“She’s one of the people who bridge scientific discovery and the knowledge that enables entire populations,” Laraki said.
And that’s starting to get even more widespread, especially after a 2013 Supreme Court decision ended the ability to have a patent on the BRCA gene, along with Jolie’s diagnosis that spread the word about the gene.
“Mary-Claire King, she’s invented something that’s almost as relevant a datapoint as your blood pressure,” said Feyi Olopade Ayodele, CEO of CancerIQ, a company that builds software to help doctors better understand and access hereditary cancer genetics tests at the preventative level. ” That’s how impactful genetic testing will be in the future.”
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