HISTORY OF LYNCH SYNDROME

Dr. Henry Lynch

Did you know that Lynch Syndrome is named after the doctor who discovered it? In the 1960’s, Dr. Henry Lynch was an Internal Medicine resident at the University of Nebraska College of Medicine. He had previously received his medical degree in 1960 from the University of Texas Medical Branch in Galveston after completing the coursework toward a Ph.D. in Human Genetics in Austin. During his residency, he met cancer patients who had many family members who had or died from the same types of cancers they themselves had been diagnosed with. At the time, the only accepted cause of cancer in medical circles was from an environmental perspective. Dr. Lynch started to look at the cause of cancer from a genetics perspective. Dr. Lynch’s ideas were rejected for 20 years along with most research grants he applied for. Undeterred, he continued his research with minimal funding. His persistence paid off and in 1984, Lynch Syndrome was given its name after Dr. Lynch. It wasn’t until the 1990’s that the current Lynch Syndrome genes were identified through genetic sequencing, and subsequently clinical tests were developed to identify mutations in the Lynch Syndrome genes. Lynch Syndrome was rarely included in Medical School curriculum until the early 2000’s.

The Milestones of Lynch Syndrome - A 127 Year Journey

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Dr. Warthin, a pathologist at the University of Michigan, had a conversation with his seamstress who told him she feared she would die of cancer because many family members over several generations had died of uterine or “abdominal” cancer at young ages.

Dr. Warthin published a paper recording his seamstress’ family history of uterine and “abdominal” cancers. He named her family, Family G. He concluded that there could be, at least in her family’s instance, a familial predisposition to cancer.

Dr. Henry Lynch reported several other family histories in detail with clusters of cancer. Having been familiar with Dr. Warthin’s Family G reports, he arranged a family G reunion to learn more about this family. He conducted a medical genetic investigation of the family. He used the term “Cancer Family Syndrome” to explain these families' cancer histories.

Dr. Lynch first used the term “hereditary non-polyposis colorectal cancer syndrome” (HNPCC) because there were other polyposis colorectal cancer syndromes which resulted in hundreds of polyps and the families he was studying didn’t have many polyps. Ultimately, it became known as Lynch Syndrome because of Dr. Lynch’s contributions.

The specific gene mutations were discovered and during this time, in a period of just 16 months, Lynch Syndrome was firmly put on the scientific map.

After 127 years, Lynch Syndrome is still not very well known in the general public and in the medical community. Approximately 90-95% of Lynch Syndrome carriers have NOT been identified!