By Peggy Conrad, MS, CGC

Reviewed by Miriam Komaromy, MD
Last updated August 4, 2000

Madelyn Emerson is downright gleeful and brags to her family when her doctor tells her that her colonoscopy is negative for polyps or cancer. With so much colon cancer in her family, she feels like a clean colonoscopy report gives her a new lease on life. Her father and paternal grandmother both died from colon cancer, as did one of her father's brothers. She helped to care for her father before his death, and her concern that she and her family members could get this cancer too keeps her going to the doctor for colon screening exams every three years.

Madelyn's concern about cancer in the family first started when her father was diagnosed with colon cancer. Hal Redson was almost 80 years old when he became ill. He'd been ignoring symptoms of rectal bleeding for at least a year until Madelyn insisted he go to the doctor. His illness came as a great shock to the family because as Madelyn says, "He was always as strong as two oxen."

The Redson family started buzzing about why colon cancer seemed to be zeroing in on them.

Because Hal's brother Robert had died from colon cancer just two years earlier at the age of 69, the family started buzzing about why colon cancer seemed to be zeroing in on them. Hal remembered that his mother, Sarah, had also died from colon cancer in her early 60s, back in the days when cancer in families was not often discussed. Hal did remember that Sarah had some kind of abdominal surgery that left her with a colostomy bag for many years before she passed away. Madelyn suspected that this must have been colon cancer too. Old Hal's memory was fading, but he also had a vague recollection of his mother caring for her older sister Emma whom he thought may also have had some kind of "abdominal cancer."

What could this all mean? Madelyn was puzzled and frightened as she pieced together the family history of colon cancer, but it was becoming clear to her that there was a pattern emerging. Hadn't her own brother Hal, Jr. been found to have precancerous polyps just last year when he had a sigmoidoscopy at age 49? She wondered who would be next. Was she at risk? What about her two sons, her cousins and all the nieces and nephews in the Redson family. More importantly, what could they do to prevent getting colon cancer? She had read in the New York Times science section about genes that increase a person's risk for cancer. Maybe there was a gene test that can explain what was going on in her family. Overwhelmed, Madelyn tried to put it out of her mind.

The pattern of cancer in Madelyn's family was suggestive of a hereditary colon cancer syndrome.

Colon cancer was the last thing on Madelyn's mind when she went to the hospital for her yearly mammogram. At age 59, this had become a regular event on her healthcare schedule. To pass the time while sitting in the waiting room, she picked up a brochure with a striking headline, "Is There Cancer in Your Family?" Madelyn's heart sank; she already knew the answer to that question. She read on to confirm her suspicions and learned that the pattern of cancer in her family was suggestive for a hereditary colon cancer syndrome.

The brochure recommended genetic consultation for any person who had two or more relatives with colon cancer. Madelyn's brother, Dennis, had told Madelyn about a new hereditary cancer program at the local university designed for individuals and families at increased risk for cancer. She decided to make an appointment with their genetic counselor to discuss the family history; she'd take Dennis along for support. While she waited the two weeks for the appointment, her anxiety and fear of colon cancer was overwhelming. Some days Madelyn was utterly convinced that she too would get colon cancer. Even worse, some days she thought that perhaps she already had colon cancer. She did not expect any good news.

Madelyn and Dennis met with a genetic counselor, Stephanie Miller, to discuss their family history.

Two weeks later, Madelyn and Dennis met with cancer genetic counselor, Dr. Miller. Dr. Miller had a million questions for them as she drew a family tree. Who had cancer, what cancers, at what age, and for those who had died, how did they die? She wanted to know about all the major medical illnesses in the family. Who had major surgeries, who in the family was getting regular colon screening, and did they have any colon polyps? Dr. Miller also wanted to know about the other people in the family that were alive and well. She also asked where the ancestors on both sides of the family had originated before coming to America. Dennis had traced the family's history back to Ireland on the Shaughnessy side, and western Germany on the Redson side, so he eagerly volunteered this information — although he couldn't imagine why it was important.

They could see the pattern of colon cancer marching through the generations of their family.

Of course, Madelyn knew more than Dennis about all the medical things because she was the one in close touch with almost everyone in the family. Dennis called her "the busybody everyone has to like." Just talking about all the cancer in the family saddened Madelyn; it reminded her of how sick her father had been before he died, and the grief the family shared about losing their cherished Uncle Robert. Sitting there made her think it would happen all over again. They both watched as Dr. Miller drew the family tree, drawing lines through those who died and coloring in the circles and squares to show that colon cancer was the culprit. Patiently waiting for her to finish, they too could clearly see the pattern of colon cancer marching from one generation to the next on the page. Madelyn dreaded what the counselor might tell her when she finished drawing the family tree.

Miller explained that the more relatives you have with colon cancer, the greater is your risk of developing the disease.

Dr. Miller used the tree to explain what was going on in the Redson family. She explained that yes, there was definitely too much colon cancer happening in Madelyn and Dennis' family, but that the family probably did not have one of the known hereditary colon cancer syndromes (HNPCC or FAP). Rather, she explained, the Redson family tree suggested a pattern called familial colorectal cancer. She didn't need to point out to them that numerous people in the family had colon cancer, but she did point out what features of the family tree suggested familial colorectal cancer as a diagnosis. First, both Madelyn and Dennis have two first-degree relatives who had colon cancer or polyps (their father Hal, Sr. and their younger brother Hal). In addition, there are other biological relatives who have had colon cancer. She explained that generally the more relatives one has with colon cancer, the greater the risk to oneself.

Because people in the Redson family developed colon cancer later in life, this also indicated a familial pattern, as shown on the family tree. Dr. Miller explained that in the known hereditary colon cancer syndromes — HNPCC and FAP — family members tend to get colon cancer very early in life; sometimes in their early 30s and 40s. This definitely wasn't the case with the Redsons. Another thing about the Redson pedigee — a good thing Stephanie pointed out — is that there were many people in both generations who lived long lives and did not get colon cancer. This too was suggestive of a familial pattern and not one of the known inherited colon cancer syndromes.

More on Familial Colon Cancer

Dr. Miller explained that scientists currently believe that familial colon cancer is likely passed from one generation to the next like the other well known syndromes, but that environmental factors may also play a role in how, when, and if the colon cancer develops.

Familial cancer is inherited, but environmental factors also play a role in how, when, and if cancer develops.

She went on to explain why she was interested in the Redson family's ethnic origins. For families with familial colorectal cancer patterns who are of Ashkenazi Jewish origin, genetic testing is available because at least one of the genes responsible for familial colon cancer has already been identified.

Dr. Miller couldn't offer Dennis and Madelyn a genetic test, but she presented them with a colon cancer screening plan. Because people with familial colorectal cancer may be more likely to form polyps, and those polyps may be more likely to grow into colon cancer, regular and earlier colon cancer screenings are recommended for families like the Redsons. And because some researchers have found that the colon cancers that do occur in families with familial coloon cancer are more likely to occur on the right side of the colon, Dr. Miller recommended that Madelyn, Dennis and other family members have colonoscopy, a procedure that views the entire colon (link to colonoscopy) every three to five years beginning at age 40, as opposed to the standard sigmoidoscopy screening that only allows doctors to view part of the colon.

Colonoscopy is very good at finding and removing the polyps that can turn into cancer.

Dr. Miller explained that these guidelines, based on expert opinion, can vary slightly among different doctors and professional organizations. Expert opinion simply means that specialists in the field of inherited colon cancer believe that by following these guidelines, colon cancer may be prevented or at least detected earlier when it is curable. Dr. Miller said, "Although there are no long term studies that prove without a doubt that these screening guidelines work to prevent cancer, colonoscopy is very good at finding and removing the polyps that can later turn into cancer. Early and regular colonoscopy can be the most important and valuable weapon against the colon cancer in the Redson family."

Dennis protested, "but, I hate drinking all the awful stuff the night before. Isn't there another way?" Dr. Miller agreed that many people dislike the colonoscopy preparation (which requires drinking a gallon of solution to cleanse the colon the night before the procedure), but admitted that the short-term displeasure is well worth the comfort gained from knowing you don't have colon cancer. Dennis had to admit she was right. But he also knew that convincing the rest of the family would take some doing.

More on Screening Recommendations for Familial Colon Cancer

Madelyn felt empowered as they left Dr. Miller's office. She dragged Dennis out of the hospital and into the pouring rain in search of a quiet restaurant where she could have a good cry and collect her thoughts. As she and Dennis sat at lunch reviewing the events of the morning, Madelyn was relieved but still anxious. She knew the family's enemy better now, and she was convinced that regular colonoscopy would be the family's best weapon against it. But how would she convince the whole family? Had would they take this scary information? Would they believe it? Her biggest question was would they get the necessary colonoscopies? She was glad that Dennis had come along; he could share this big task with her.

Madelyn and Dennis were eager to get the word out to the rest of their family that colon cancer did indeed run in their family.

Madelyn and Dennis were both now eager to get the word out to everyone as soon as possible. Dennis lamented that a videotape of their appointment with Dr. Miller would have been the perfect way to tell everyone what they learned. They batted around the idea of sending everyone a letter telling them what they learned and including information from Dr. Miller about what to do about familial colon cancer. In the end, they decided that the upcoming Memorial Day weekend gave them a good shot at getting almost everyone together at Dennis' house for an informal backyard party. Dennis' wife Sharon was a professional chef. No one ever turned down an invitation to a party at Dennis' house.

Madelyn was relieved...they had warned their family about the threat of cancer, and had given them tools to increase their chances of preventing the disease.

As the Redson clan convened for a day of food and fun at Dennis' house, Madelyn was intent on not spoiling the festive mood with talk of cancer and colonoscopies. Instead of a big announcement, she discreetly chatted with each family member individually, sharing information that she and Dennis had learned from their visit with the genetic counselor. By mid-afternoon, everyone was talking openly about it.

Uncle Robert's daughter, Alice, was surprised and relieved. She had been ignoring her doctor's advice to have a colonoscopy for more than a year. Learning about the familial colon cancer in the family, now she knew the threat was real. She'd be first in the family to schedule a colonoscopy!

Madelyn also felt relieved. She and Dennis had done all that they could do to warn and educate the family about preventing colon cancer. Madelyn knew that her job — to worry and educate her family — would never end, but she was willing to take on the task. "Somebody's gotta do it. I'd rather be preaching to them now about colon screening than to lose them the way we lost Dad and Uncle Robert."