In the hands of world-renowned geneticist Mary-Claire King, PhD, science and medicine combine as a powerful force for bettering the human condition. To her, scientific inquiry is to be used as a tool for good.
Dr. King discovered a gene that can leave women at greater risk for breast cancer, then fought a company that tried to limit the scientific research that could be done on that gene. She reconnected families separated by war in Argentina, Rwanda and El Salvador. She won some of science’s highest honors — the Lasker Award, often called “America’s Nobel,” and the National Medal of Science.
In April, The Ohio State University Comprehensive Cancer Center – James Cancer Hospital and Solove Research Institute (OSUCCC – James) presented her with the annual Herbert and Maxine Block Memorial Lectureship Award for Distinguished Achievement in Cancer. Dr. King used that stage to advocate for science improving the world.
Every woman 30 or older, she said, should be offered testing for mutations in the breast cancer gene. Doing so could prevent thousands of deaths a year.
“No woman with a mutation in this gene need die,” King said at Ohio State when she accepted the award. “It is absolutely unnecessary; it is completely preventable.”
The breast cancer gene King discovered is called BRCA1. Later, researchers discovered a second gene and named it BRCA2.
Mutations in these genes can lead to devastating disease. King and her research team have found mutations in the genes lead to increased risks of breast cancer, ovarian cancer and cancer of the fallopian tubes. Men with mutations in the same genes are slightly more likely to get certain cancers, including prostate cancer.
The link is especially strong between the mutations and breast cancer: In King’s studies, more than 80 percent of women with BRCA1 mutations developed breast cancer by the age of 80.
If a woman carries the mutation, it doesn’t matter if her mother or aunt or sister had breast cancer, or if her mutation was inherited from her father who remained cancer-free; she is likely to develop it eventually.
“Family history matters less than the gene,” Dr. King said.
BRCA1 and BRCA2 mutations are particularly common among certain ethnic groups, completely by chance. In the United States as a whole, scientists believe, between one in 100 and one in 200 people have a mutation in one of the genes. Among Ashkenazi Jewish women and men, though, that rate is one in 40.
And because the mutations are genetic, King said, cancers linked to those genes strike women “who have done everything right.”
The lesson her research has taught us is, in her words, “You cannot prevent breast and ovarian cancer with behavior alone. Mutations are simply bad luck.”
Tests for mutations in these genes used to be prohibitively expensive. But a recent U.S. Supreme Court decision, combined with advances in technology, has made the tests far more affordable. Some are covered by insurance; those that are not run about $250, and funding can help women who can’t afford that price tag.
Gene mutations and their links to cancer are widely studied now for many cancers, but in the 1970s, ’80s and ’90s, when King and her research team were studying severely affected families to get a better handle on cancer, combining genetics and cancer research was groundbreaking.
King and her team used genetic tests similar to the ones that help determine a child’s paternity and eventually found a gene that, if mutated, puts women at high risk of developing breast cancer before they turn 45.
It took King and her lab 17 years to map the chromosomal location of BRCA1. They published their findings in 1990, the same year as the beginning of the Human Genome Project, an international scientific effort to map all of the genes that make up human DNA. Progress of the Human Genome Project allowed scientists to locate BRCA2 in just a year.
King’s investment was personal: Her closest childhood friend died of cancer when King was 15. Turning her scientific attentions to understanding cancer, she hoped, could save children and women in the future.
Identifying BRCA1, though, was just the beginning. Science then had to find a way to make sure women could learn if they carried a mutation on BRCA1 or BRCA2. Four years after King identified BRCA1, a genetic-testing company cloned and patented it, claiming that only they could test women for it. Costs for the genetic test to identify BRCA mutations in women skyrocketed.
King saw the patent as an injustice. Because the test was prohibitively expensive, women at high risk of breast cancer were less likely to find out that they were at high risk, almost guaranteeing they would not get the preventive treatment they needed.
In 2009, the American Civil Liberties Union, with King’s support, filed a lawsuit to overturn that patent. In 2013, the U.S. Supreme Court agreed.
King’s work has earned her numerous awards, most recentlythe OSUCCC – James’ Block Lectureship Award. The award, started through a generous gift from the family of Herbert and Maxin Block, has brought notable cancer researchers to Ohio State. Some have gone on to join the team at the OSUCCC – James, pursuing new research that saves or improves cancer patients’ lives around the globe.
Jeri Block, daughter of Herbert and Maxine Block, said the award – and the family’s philanthropy – has been a way to harness their grief for good.
“Both of our parents died from cancer,” she said. “Our father died from cancer at the age of 60, and we wanted to do something to help fight cancer, which led to the establishment of this lectureship, which has grown into one of the most significant awards for achievement in cancer.”
Among other things, the award brought King to Columbus to speak before James cancer doctors and researchers, and led to a public panel discussion with King and cancer experts from the OSUCCC – James.
Funding for the award comes from the Herbert J. Block Memorial Golf Tournament, which took place Sept. 11. The tournament began in 1982, years before other fundraisers for cancer research – for example, Pelotonia and the Stefanie Spielman walk/run – started in central Ohio. It started even before there was a James Cancer Hospital and Solove Research Institute.
The Block family is committed to making a difference – philanthropy, they said, was instilled in them from a young age.
“We’ve been fortunate and lucky enough to see the growth and excitement and the cures,” said Julie Block Glassman. “And we’ve been fortunate to see people living longer with this disease.”
The lectureship is helping the OSUCCC – James advance its mission of curing cancer, one patient and one discovery at a time.
“This lectureship has been bringing the kinds of minds here who are changing the face of cancer treatment, and that gives me a lot of drive, because I can see how important that is,” said Jeff Block. “Without this lectureship, you wouldn’t have Dr. King here. We are proud these people share their knowledge at Ohio State.”