Transcript of video
Dr. C. Richard Boland is a leading gastroenterologist and colon cancer expert in the US. He wrote a book about his own family. It is called “Cancer Family: the search for the cause of hereditary colorectal cancer.” This book is about Dr. Boland’s own family struggles with colorectal cancer and uterine cancer. Personal family struggle with colon cancer helped Dr. Boland to find a gene that increases colon cancer risk. Dr. C. Richard Boland, MD., you have recently published a fascinating and profound book, “Cancer family: the search for the cause of hereditary colorectal cancer.” This is a profound book about your own family’s struggle with hereditary colon cancer across many generations, and uterine cancer cases on the female side of your family. Dr. Anton Titov, MD. Could you please tell us about your book? This is a story that you wrote in a very interesting manner. This story set you off on an amazing career of biomedical discovery with practical implications for current generation of your own family. Yes! So when I was a first-year medical student, I started school in September 1969, and by November my father had abdominal pain. To make a long story short, he had colon cancer and he died by the next summer. As he went through his illness, we discussed his situation more. It turned out that there was a big story of familiar colon cancer in our family that had not been discussed. I heard a little bit about it, I knew that several people in his family had died from colon cancer. But I felt like I really had to get into that and understand it better, principally because of my own risk for colon cancer. I was concerned about what was going to happen to me and my brother, and my two sisters. Dr. C. Richard Boland, MD. So it turned out that my father had a colon cancer at age 25. He was a member of large family. Family had 13 brothers and sisters. And big families are fun to be around and they are great for studying genetics. Of 13 siblings, 10 members of my father’s family had some type of cancer. Several of them had cancers when they were 20 or 30 years old. Mostly it was colon cancer and uterine cancer. So what I did was – I was going to school in Connecticut, so I went to New York and Pennsylvania where the family homes were. I got records and assembled a family [medical] history. Then I tried to look for families with colon cancer in the literature. And I was able to find that there were such families with many cases of colon cancer, like my family, but not too many. But there was no biomarker for colon cancer at that time. There was nothing specific about the situation. Except that some people were very young when they got colon cancers. And my father had colon cancer when he was 25, and he had a second colon cancer at age 49. And he had a positive family history of colon cancer. And the family history was with a lot of young people who had cancer. So I realized there was something going on. So the book tells about my awareness about what was going on in my family and getting that information together. Then there’s a story about how my father and his 12 siblings all were very successful. They were the sons and daughters of a factory worker. But they all became doctors and lawyers and newspaper editors and businessmen and teachers. So they all “made it” in life. But they had this terrible secret that nobody wanted to discuss. So I decided that there was a real disease there. And then I found more families that were like our family [had many cancers] I found out about Dr. Henry Lynch’s work. He was very helpful. He sent me all sorts of family pedigrees [with cancer] that he collected. Dr. Henry Lynch continued to describe families with history of colon cancer. Dr. Henry Lynch also figured out the link between colon cancer and uterine cancer, between breast and ovarian cancer. Dr. Lynch linked pancreatic cancer and melanoma – All these discoveries have really stood the test of time. His name is on all articles describing the genes for these cancers. Even though he was not the gene hunter, Dr. Henry Lynch set the stage clinically for us to understand familial cancer links. So by 1993 microsatellite instability in colon cancer was discovered by three labs independently. and it was immediately linked to Lynch syndrome [familial colon cancer]. I was collaborating with Dr. Bert Vogelstein on colorectal cancer genetics. Dr. C. Richard Boland, MD. Most of the people on my father’s side of family who carried the gene had already died of colon cancer. There were 27 first cousins all together. One of my cousins already had a uterine cancer and gastric cancer. So I got blood from her, we made a cell line from her blood. We then began hunting for where the cancer-causing mutation might be. Dr. Bert Vogelstein couldn’t find any mutation initially. We had to do this fancy gene-hunting technique to separate the mother’s and father’s genetic alleles. Ultimately I was able to clone out the mutation responsible for Lynch syndrome colon cancer in my family. And since that time we know that 50% of my family carries Lynch syndrome gene, another 50% does not carry the mutation. Family members who don’t carry the mutation, don’t need to undergo intensive screening for colon cancer. Family members who have Lynch syndrome mutation, had to have intensive screening with colonoscopy. And women who had Lynch syndrome gene had to have the uterus and ovaries surgically removed. But everyone is alive. Every single person, since we found the cancer-causing mutation in our family, is alive. That has never been true before we found a colon cancer-causing gene in my family. So the book is about my awareness of what was going in my family regarding cancer, my making a commitment that I really needed to tackle this cancer problem. Because I realized that nobody else is going to do it. Then I realized that I had to find causes of colon and uterine cancers in my family. Because it was my own problem. Then lots of good science came along, and that was just good luck. We were able to find the gene causing colon cancer in my family. So there was a very good outcome. The book traces my initial wondering about what’s going on. Then I doubted that it was possible to solve the problem. I went through a somewhat negative period of wondering what can I do to help my family and myself. Then I realized that if I became a laboratory scientist I had an opportunity to solve the problem of colon cancer and uterine cancer in my family. And then all the good things that came up from my research on colon cancer, and the fact that everybody in my family is doing well. That is a real reward. So the book ends up on a very positive note. So this is a fascinating story because so many generations of your family struggled with several cancers. And that set you off on a personal discovery path. But your path was not just a theoretical scientific discovery. It was a real life situation that affected current generation of your own family. That is an amazing story! It’s a very interesting and fascinating book to read. So there’s some sociology and some genealogy in a book. And there’s a little bit of science in it. At one point I tell how the Lynch syndrome cancer-causing gene was discovered. Dr. C. Richard Boland, MD. But I tried to do that in a way that everybody could read. And then in the end there are some nice things that happened because of finding these cancer-causing mutations, It was a good outcome for my family. You have solved the medical mystery of your own family. Dr. Anton Titov, MD. That is amazing! – Yes! Dr. Boland, thank you much for this very extensive conversation about colorectal cancer genetics, risk factors and what affects treatment of colorectal cancer, novel tumor markers, and prevention of colon cancer by certain dietary substances such as curcumin. It was a fascinating conversation! Thank you very much and we hope to get back to you in the future with more questions about colorectal cancer. I’ll be here! Thank you very much, Dr. Titov, I appreciate it! Thank you!