This weekly series highlights eponyms in oncology. This week, we explore the history and namesake of Lynch syndrome.
Lynch syndrome is a genetically inherited syndrome that can cause a variety of cancers.1
The most common is colorectal cancer, but Lynch syndrome also predisposes patients to small bowel, gastric, hepatobiliary, endometrial, ovarian, and ureter and renal pelvis cancers.
Lynch syndrome is caused by a germline mutation in 1 of 4 DNA mismatch repair (MMR) genes — MLH1, MSH2, MSH6, or PMS2.2
National Comprehensive Cancer Network guidelines recommend universal screening for Lynch syndrome for all colorectal and endometrial cancer patients, regardless of the age at diagnosis. The guidelines also recommend considering tumor screening for MMR deficiency for sebaceous neoplasms and for small bowel, gastric, pancreas, biliary tract, brain, bladder, urothelial, and adrenocortical cancers.
History of the Name
Henry T. Lynch, MD, is the namesake of Lynch syndrome.1 He was born in Lawrence, Massachusetts, in 1928.
Dr Lynch served in the US Navy during World War II as a gunner in the South Pacific. When he returned from the war, he earned his high school degree and competed as a professional boxer under the name “Hammerin’ Hank.”
Dr Lynch ultimately gave up boxing to continue his education. He earned a bachelor’s degree at the University of Oklahoma, a master’s degree in clinical psychology from the University of Denver, and an MD from the University of Texas in Galveston.
It was in 1962 — during his internal medicine residency at Creighton University in Omaha, Nebraska — that Dr Lynch encountered the condition that would later bear his name.
Dr Lynch learned that a patient hospitalized for delirium tremens had a family history of colorectal cancer and endometrial cancer. Overall, Dr Lynch identified at least 21 family members with adenocarcinoma or other tumors.3
Dr Lynch named this family “Family N” for Nebraska.1 Around the same time, Margery Shaw, MD, came across a similar family in Michigan, dubbed “Family M.” Dr Lynch and Dr Shaw published information on both families in 1966.
Dr Lynch published findings from other such families in 1967 and 1971.4 His work built on prior studies by Aldred Scott Warthin, MD, PhD. In the late 1800s and early 1900s, Dr Warthin had described a family with a history of cancer called “Family G.”
Dr Lynch initially called this family predisposition to cancers “Cancer Family Syndrome.” He later coined the term “hereditary non-polyposis colorectal cancer,” which became the accepted nomenclature for many years.
When the genetic basis of the phenomenon was identified, the term “Lynch syndrome” was applied by C. Richard Boland, MD, to those families with germline mutations in MMR genes.
Dr Lynch spent his career at Creighton University but was known for doing work in the field, meeting with patients and families in their homes and communities.3 He was often called a “father of cancer genetics.” Dr Lynch died in 2019 at the age of 91.
1. Kumar P, Brazel D, Benjamin DJ, Brem E. Eponyms in medical oncology. Cancer Treat Res Commun. 2022;31:100516. doi:10.1016/j.ctarc.2022.100516
2. NCCN Clinical Practice Guidelines in Oncology. Genetic/familial high-risk assessment: Colorectal. Version 1.2021. Published May 11, 2021. Accessed April 22, 2022. https://www.nccn.org/professionals/physician_gls/pdf/genetics_colon.pdf
3. Marcus A. Obituary: Henry T. Lynch. Lancet. 2019; 394(10192), 6–12. doi:https://doi.org/10.1016/S0140-6736(19)31502-8
4. Boland CR, Lynch HT. The history of Lynch syndrome. Fam Cancer. 2013;12(2): 145–157. doi:10.1007/s10689-013-9637-8