Cancer Family
The Search for the Cause of Hereditary Colorectal Cancer
by
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A 25 year old man stares out the window of his apartment towards the street 3 floors below. He has just had an operation for cancer, and was discharged from the Army - to die. He is given a narcotic for pain, to which he has become addicted. His wife tends to their 1 year old daughter, fearful of what he might do. He falls to the floor with a seizure, and his young wife is crushed with despair. Against all predictions, he survives his cancer, kicks the narcotics, starts his life again, and lives another 24 years before he develops a second colon cancer, which kills him. He was second-generation American, son of an iron factory worker, attended college in his home town on an athletic scholarship and was went to medical school on the GI bill prior to his sojourn in the Army. He was the 12th of 13 siblings, and cancer ran rampant in the family, often striking in the 20s and 30s. Ten of the 13 siblings developed cancers; the father and grandfather had also died of cancer. In this family, cancer was a forbidden topic, and could never be discussed. In the first half of the 20th Century, many scientists thought that families with cancer should be removed from the gene pool (the dreaded eugenics movement). In spite of the cancer problem, all 13 in this generation experienced exceptional success with their lives, and spawned 27 children in the next generation. I was one of the 27. My father developed his second cancer just as I started medical school in 1969. His suffering and death were devastating to me, but after some years of ill-directed behavior, I changed the direction of my life and became a medical scientist with the single-minded determination to solve the problem of why there was cancer in my family. The story narrates my personal growth through the prism of the turbulent 1960s. The rebellious zeitgeist helped lead me into a career in research. My academic life began in an arcane area of biochemistry, but a few years after starting, the molecular biology revolution changed all biomedical research. Serendipitously, I plowed into tumor genetics at just the right time. The genetic basis of hereditary colon cancer was discovered during the early 1990s, was intensely competitive, and led to solving one of the best medical mysteries of all times. However, no one could find the mutation in my family, and we couldn’t tell who had the cancer risk and who did not. During a family wedding, I drew blood from multiple relatives, one of whom (a cousin) was dying of cancer. From her DNA, my nephew joined my lab in the summer of 2001, and cloned the mutation responsible for the disease in our family, from which we made a diagnostic test. This permitted us to identify exactly which family members carried the mutation and who did not. Excellent treatment was available for mutation carriers, and half of the family was relieved of the anxiety and unnecessary testing. The story has a powerfully positive finish as not one of those who tested positive for the mutation in 2001 has subsequently died of cancer – completely altering the natural history of this disease.
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About the Book
It is 1946, and a young man stares out his third-story apartment window. He has returned from the war with metastatic cancer and assumes he will die, leaving his wife and infant daughter behind. Instead, he lives another twenty-four years, raising a family of four children, before he succumbs to a second colon cancer. His son, the author, recognizes that there is a hereditary cancer syndrome in the family and resolves to solve the problem as a medical researcher. Eventually, hereditary colorectal cancer is recognized as a medical entity, and multiple genes responsible for this hereditary condition are isolated. However, the mutation responsible in the author’s family escaped detection. In 2001, his laboratory identifies the mutation responsible for the problem and develops a specific test for the family. This permits the mutation carriers to obtain life-saving care, altering the natural history of the disease for his family and others.
About the Author
The author is a medical scientist who has published 360 papers and chapters, was president of the American Gastroenterological Association (AGA) in 2012, and won the Distinguished Mentor Award from the AGA GI Oncology Section in 2011. In 2015, he was awarded the AGA Beaumont Prize in Gastroenterology, which is given once every three years, and the Lifetime Achievement Award by the Collaborative Group of the Americas on Hereditary Colorectal Cancer. Both of these research awards were given for work on the hereditary colorectal cancer syndrome called Lynch Syndrome. Colorectal cancer is one of the most “familial” of the cancers; some is due to environmental influences shared by a family, but about 4 percent of all colorectal cancers can be tied to strong genetic factors. Most of those at risk are unaware of this. The author gives lectures to patient advocacy groups involved in the hereditary colorectal cancer syndromes. Dr. Boland took a leave from his research laboratory in 2014 to write this memoir about his personal involvement in the discovery that Lynch Syndrome was in his family, and formulating the concepts involved in this disease. In 2001, Boland’s lab finally isolated the mutation responsible for the disease in his family and developed a specific genetic test for the disease, which has had a dramatic impact on his family.