A2 Review article, Literature review, Systematic review
The “unnatural” history of colorectal cancer in Lynch syndrome : lessons from colonoscopy surveillance (2021)

Ahadova, A., Seppälä, T. T., Engel, C., Gallon, R., Burn, J., Holinski‐Feder, E., Steinke‐Lange, V., Möslein, G., Nielsen, M., ten Broeke, S., Laghi, L., Dominguez‐Valentin, M., Capella, G., Macrae, F., Scott, R., Hüneburg, R., Nattermann, J., Hoffmeister, M., Brenner, H., . . . Kloor, M. (2021). The “unnatural” history of colorectal cancer in Lynch syndrome : lessons from colonoscopy surveillance. International Journal of Cancer, 148(4), 800-811. https://doi.org/10.1002/ijc.33224

JYU authors or editors

Publication details

All authors or editors: Ahadova, Aysel; Seppälä, Toni T.; Engel, Christoph; Gallon, Richard; Burn, John; Holinski‐Feder, Elke; Steinke‐Lange, Verena; Möslein, Gabriela; Nielsen, Maartje; ten Broeke, Sanne; et al.

Journal or series: International Journal of Cancer

ISSN: 0020-7136

eISSN: 1097-0215

Publication year: 2021

Volume: 148

Issue number: 4

Pages range: 800-811

Publisher: Wiley

Publication country: United States

Publication language: English

DOI: https://doi.org/10.1002/ijc.33224

Publication open access: Openly available

Publication channel open access: Partially open access channel

Publication is parallel published (JYX): https://jyx.jyu.fi/handle/123456789/74219


Individuals with Lynch syndrome (LS), one of the most common inherited cancer syndromes, are at increased risk of developing malignancies, in particular colorectal cancer (CRC). Regular colonoscopy with polypectomy is recommended to reduce CRC risk in LS individuals. However, recent independent studies demonstrated that a substantial proportion of LS individuals develop CRC despite regular colonoscopy. The reasons for this surprising observation confirmed by large prospective studies are a matter of debate. In this review, we collect existing evidence from clinical, epidemiological and molecular studies and interpret them with regard to the origins and progression of LS‐associated CRC. Alongside with hypotheses addressing colonoscopy quality and pace of progression from adenoma to cancer, we discuss the role of alternative precursors and of immune system in LS‐associated CRC. We also identify gaps in current knowledge and make suggestions for future studies aiming at improved CRC prevention for LS individuals.

Keywords: cancerous diseases; hereditary diseases; bowel cancer; cancer of the large intestine; Lynch syndrome; medical screening; coloscopy

Free keywords: Lynch syndrome; colorectal cancer; colonoscopy surveillance; incident cancer risk; mismatch repair deficiency; microsatellite instability

Contributing organizations

Ministry reporting: Yes

Reporting Year: 2021

Preliminary JUFO rating: 2

Last updated on 2021-09-08 at 13:00