Abstract
Lynch syndrome is the hereditary disorder that most frequently predisposes to colorectal cancer as well as predisposing to a number of extracolonic cancers, most prominently endometrial cancer. It is caused by germline mutations in the mismatch repair genes. Both its phenotype and genotype show marked heterogeneity. This review gives a historical overview of the syndrome, its heterogeneity, its genomic landscape, and its implications for complex diagnosis, genetic counseling and putative implications for immunotherapy.
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Acknowledgements
We thank Peter Silberstein, M.D., for technical assistance.
Funding
This work was supported by revenue from Nebraska’s excise tax on cigarettes awarded to Creighton University by the Nebraska Department of Health and Human Services. Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the State of Nebraska or the Nebraska Department of Health and Human Services. Funding was also received from the Liz’s Legacy fund through Kicks for a Cure. Dr. Henry Lynch’s work is partially funded through the Charles F. and Mary C. Heider Chair in Cancer Research, which he holds at Creighton University.
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Lynch, H.T., Lanspa, S., Shaw, T. et al. Phenotypic and genotypic heterogeneity of Lynch syndrome: a complex diagnostic challenge. Familial Cancer 17, 403–414 (2018). https://doi.org/10.1007/s10689-017-0053-3
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DOI: https://doi.org/10.1007/s10689-017-0053-3