CANCER PIONEER Rick Boland is widely recognized as one of the world’s leading researchers in genetic colon cancer. Photography by Shane Kislack

How Your Genetic History Can Save Your Life

Just ask the man who discovered that.

Every year, in June, when the Baylor University Medical Center gastroenterology trainees are preparing to strike out on their next medical endeavor, the staff plays a game.

The room is split in half, and it’s essentially slow-play Jeopardy. The moderator releases one medical fact at a time, until someone in the audience knows the disease or condition with which a patient is afflicted. The game, ostensibly, is a fun way to test the young doctors’ knowledge without putting them directly on the spot.

The moderator would begin: a 34 year-old woman. Pigmented spots on her body. Blushes easily.

Before any of the trainees—or the lifelong researchers, department heads, or medical association presidents, for that matter—could process the prompts, Dr. Rick Boland fires off his buzzer and rattles off some rare hereditary disease.

“He thinks very quickly,” says Dr. John Fordtran, Baylor’s former chief of internal medicine. “Rick is so quick. He’ll just hit that button. He’s hard to beat.”

“When I first went into the lab, there was no reasonable expectation that we would ever solve these problems in my lifetime.”

Dr. Rick Boland

“Rick was always the winner,” says Dr. Lawrence Schiller, a Baylor gastroenterologist. “It makes you chuckle, because he knows the answer before the question is done.”

It’s worth noting that Fordtran and Schiller are, respectively, the co-author of the gold standard gastroenterology textbook and the former president of the American College of Gastroenterology. These are not men who are easily impressed by medical acuity.

But Boland, widely recognized as one of the world’s leading researchers in genetic colon cancer, is worthy of their praise.

“He has contributed more to the understanding of the familial variety of cancers of the colon and rectum than anyone else,” wrote Dr. William Clifford Roberts in the medical journal BUMC Proceedings upon Boland’s arrival at the hospital in 2004. He continued, in a grand show of restraint: “…he is a tremendous addition to BUMC.”

And it all has to do with one man, returning from World War II with stage III colon carcinoma.

FAMILY TIES

Clement Boland was 26 when he returned from Italy. Forty pounds lighter than when he left, he was sent home from active duty with what military medics assumed was an ulcer. He was so gaunt that when his wife, Catherine, picked him up in New York City, she didn’t recognize him. He was too frail to rise from the stretcher on his own.

The two returned to Johnson City, New York, where Clem had a large cecal tumor removed. A pediatrician, he returned to work and got back to the business of raising his family. There was no chemotherapy at the time, and Clem refused radiation therapy. Had he received the treatment, Rick would have likely never been born the next year.

By the time he was five years old, Rick Boland realized he wanted to follow his father’s footsteps. Around the dinner table, Rick and his three siblings listened as their father regaled them with family tales and yarns of his life as a doctor. When he was 13, Rick’s father gave him a microscope and dissecting kit for Christmas. It’s the only Christmas he remembers exactly what he received.

In high school, advanced placement science classes piqued Boland’s interest in cells and biochemistry, and he eventually headed to Notre Dame to study pre-med. After college, he applied to medical school at Yale, and his father’s alma mater, Georgetown. He was accepted to both. 

“Can the family afford to send me to Yale?” Rick asked his father.

“Well, yes,” Clem responded.

“May I go to Yale?” Rick asked.

His father agreed.

His favorite course was one where they would show a person with a disease: something commonplace, like diabetes, or something incredibly rare; so rare that the hospital didn’t even have a patient to display. Boland would rack his brain, then pounce on an answer.

‘A FAMILIAL CANCER SYNDROME’

During Boland’s first year at medical school, his father again became ill. At the age of 49, Dr. Clement Boland died, after doctors discovered two synchronous cancers in his colon, with metastasis to his liver. Rick began digging into his family’s cancer history, and the results were alarming. His paternal grandfather had colon cancer at 27 and later died of rectal cancer at 46. One of his paternal great-grandfathers had colon cancer at 41. Nine of his father’s 13 siblings had endometrial, ovarian, brain, colon, or stomach cancers, often before the age of 50.

He brought the results of this medical family tree to his professors at Yale, as evidence of a then-unknown genetic link to colon cancer. They dismissed the idea, due to his family’s lack of familial polyposis, a condition in which polyps form on the large intestine. But Boland knew it wasn’t just bad luck.

He interviewed every relative he could find, dug through pathology reports, and studied the blood samples of family members. All of his connections failed; in the early 1970s, there just weren’t the tools to find a link. In 1973, Boland published his thesis, “A Familial Cancer Syndrome.” It was clear to Boland that a link existed, but the proof wouldn’t come for decades.

After Yale and an internship at St. Francis Hospital in Hartford, Connecticut, Boland and his wife, Pat, headed to Gallup, New Mexico, where he’d spend the next two years working off a Public Health Service scholarship he’d received during school. He worked for the Indian Health Service as a catch-all doctor for the Native American population. In addition to general medicine, appendectomies and Cesarean sections were not out of the norm. From Gallup, Boland headed to the Public Health Service Hospital in San Francisco for his residency, where he had the fortuitous luck of landing an office next to the chief of gastroenterology, Dr. Mark Rosenberg. The two became fast friends, and Boland began his academic gastroenterology career path.

He soon bounced to University of California-San Francisco for his fellowship, where he landed in the lab of Dr. Young Kim, one of the country’s premier colon cancer researchers. His path was set; he had made the jump from clinician to researcher. Boland quickly received National Institutes of Health and Veteran Affairs grants of his own, and set out to solve the riddle of his family’s history.

After a move to the University of Michigan, Boland started reading new research regarding the drivers of cancer. By the late 1980s, data showed that genetics (and not glycoproteins, as originally believed) were key in the development of the disease. In 1990, Boland took a sabbatical and began exploring these genetic possibilities. He soon focused on repetitive DNA sequences called microsatellites, and completely changed his own laboratory’s focus on the microsatellites’ possible role in hereditary colon cancer.

In order to keep his research on track, he developed a strict routine. He’d rise at 5:30 a.m., then go on a nine-mile run with Tachi Yamada, the gastroenterology chief at Michigan. They ran seven-and-a-half minute miles, and were in the lab by 8 a.m. He’d return home by 8 p.m., eat dinner, then pore over research. He’d be in bed by 12:30 a.m., then wake up and start again.

In 1994, Boland released a report linking the microsatellites to cancer. The floodgates opened. His thesis, from 20 years prior, was finally coming to fruition. The mutations within microsatellites were the key to understanding familial colon cancer; soon, groundbreaking discoveries were published in Science, Nature, Gastroenterology, and a host of other journals.

“When I first went into the lab, there was no reasonable expectation that we would ever solve these problems in my lifetime,” Boland says. “There were hundreds of hereditary diseases, and when I was a medical student we knew the genetic basis of one: sickle-cell anemia. That was it.”

By 2001, Boland had figured out what the nature of the mutation was, and made a test for it. He then went through his entire family—he has 26 first cousins—then checked everyone who was a child of somebody who had this disease. Those who carried the mutation were given their options. For men, it was annual colonoscopies. For women, it was the removal of the uterus and ovaries, after they’d had children. The yearly colonoscopies don’t just result in detecting early cancers, but prevent cancer by removing the polyps. The removal of the uterus and ovaries completely eliminates the possibility of cancer invading either of those body parts.

Thirty years after his father died, Boland had figured out a way to save his family. In the 14 years since he developed the test, no one in his bloodline who has been tested has died of cancer.

When Boland first headed to medical school, he wasn’t sure he’d even make it to 30. Now he’s responsible for unknown numbers of people making it there.

“I could have been a clinical gastroenterologist, and that would have been a very comfortable life,” Boland says. “To give that up for the unstable life of a researcher, it took a considerable leap of faith. But I was motivated more than most people were; I knew I had a problem I had to solve. And it was driving me nuts to have all the uncertainty.

“Sometimes, what looks like an altruistic idea is really just a way to save your own family.” 

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