Doctor’s quest to solve mystery of hereditary cancer

The death of La Jolla resident C. Richard Boland’s father in 1970, during his first year of Medical School at Yale, sparked the lifelong quest of the soon-to-be gastrointerologist: Solving the mysterious causes of the widely-extended cancer disease in his own family.

In the years to come he learned that 10 of 13 of his father’s siblings had cancer. “There were colon cancers, uterine cancers, and ovarian cancers ... and they were getting them young ... and if the person survived the cancer, he or she would get another one later. That just didn’t fit what colon cancer was, generally speaking,” Dr. Boland said.

His thesis tackled his family’s disease. He had his professor take a biopsy from his rectum for the sake of science, and gathered the medical history of the Bolands. “I went to the hospitals and they let me walk in, rummage through the files, take notes, photocopies, that kind of thing. So I pieced it all together, and I said, there’s something really strange going on here,” he said.

But in the 1970s and ‘80s it was too soon in the history of modern medicine to finish the puzzle. In the 1990s, the advances in genetics, and ultimately the discovery of the human genome, were the missing pieces in Boland’s research. He incorporated the large amount of data accumulated in 20 years of research with the tools that allowed him to look at the big picture and earmark the mutation of the gene that was causing the suffering of his family. “And there it was, the basis of hereditary colon cancer right in front of me,” Boland said.

In 2015, Boland self-published “Cancer Family. The Search for the Cause of Hereditary Colorectal Cancer.” The book explains his research ingrained with his very captivating family story. Boland discovered that the key factor in his family’s history of cancer was a hereditary mutation of a gene that caused, what he named, “Lynch Syndrome.”

Colon cancer runs in families. Dr. Boland explained that one in every 10 Americans with colon cancer has a direct relative who’s also had it. But only 3 percent of colon cancers are a consequence of Lynch Syndrome. “And then a whole bunch more will have a strong family history probably because of their habits,” Boland said.

Diet is a key risk factor in developing colon cancer. People with diets high in fat and red meat see a higher occurrence than people with vegetarian diets. Alcohol, smoke, exercise and the amount of sunshine one gets are also factors in the cancer equation. “It’s probably because sunshine drives vitamin D production in the skin and that’s moderately protective of colon cancer,” Boland said.

The size of his family contributed to the success of his research. “Geneticists love big families,” he said. “I am one of 27 first cousins among the offspring of my father and his 12 siblings. My two eldest cousins died of their cancers (one was the eldest, Trudy, from whose blood we found and cloned the family’s mutation), and her brother, who refused to be tested, had no children, and finally died of his third cancer.”

In Boland’s family, cancer talk is a taboo. His father, who suffered his first colon cancer during World War II, never discussed the issue openly. “He was scared to death to talk about it. I was his son and his namesake and he never discussed it with me,” Boland said. “It was like saying, ‘You know that Uncle Harvey is gay,’ back then in the 1950s.”

Boland recommends full disclosure of health concerns within families. Knowing if the Lynch Syndrome runs in your family can save lives. In Boland’s family, most of his father’s generation died of cancer. In his generation, only the two elder cousins succumbed to the disease. His sister, Suzanne, to whom he devotes an entire chapter in the book, has survived four cancers.

“Once we knew who had the gene and who didn’t have the gene, those who didn’t carry the mutation didn’t need this intensive screening. But once you have it, you say, ‘You have to have a colonoscopy every year,’ and if you are a woman you need to do this and that, because of the gynecological cancers,” Boland explained.

He added that the average person should get his or her first colon cancer screening at age 50. The results of the colonoscopy will not only determine if that person has cancer, but it breaks down the frequency with which subsequent colonoscopies should be repeated. Five to 10 years is the most usual period.

Lynch Syndrome is very different from other colon cancers, Boland pointed out. It appears earlier in life and it develops faster. If you have a first-degree relative who suffered a cancer with these premises, you could contact a genetic counselor to find out more about your family’s medical history and if the mutation runs in your genes.

—“Cancer Family. The Search for the Cause of Hereditary Colorectal Cancer,” is available at amazon.com or by contacting crichardboland@gmail.com

Editor’s Note: On May 22, Dr. Boland will receive the Julius Friedenwald Medal from the American Gastroenterological Association (AGA) at its annual meeting in San Diego. Established in 1941, the award recognizes an individual who has contributed significantly to the AGA and has made lifelong contributions to the field of gastroenterology.

In 2015, Dr. Boland was awarded the AGA William Beaumont Prize, which recognizes a senior investigator who has made a contribution to significantly advance the care of patients with digestive diseases through clinical or translational research. In October 2015, he was given the Lifetime Achievement Award of the Collaborative Group of the Americas on Inherited Colorectal Cancer (CGA-ICC).

Of the recognitions, Dr. Boland told La Jolla Light, “As I heard Michael Brown, M.D. recently say about awards (and he is a Nobel Prize winner), if you are a MLB team, the point is to win the World Series. If you are an NBA team, it’s the Championship. But in science, it’s about finding the truth, and the awards are not the point, but a ‘pleasant afterthought.’ Indeed this is the case, and all three of my daughters and a couple of other family members are traveling to San Diego for this Sunday’s awards ceremony, so it will be very pleasant and meaningful to me. It’s nice to be honored by one’s peers, but that was never the goal. It just worked out that way.”