Journal
FAMILIAL CANCER
Volume 22, Issue 1, Pages 61-70Publisher
SPRINGER
DOI: 10.1007/s10689-022-00299-9
Keywords
Lynch syndrome; DNA mismatch repair deficiency; Familial colorectal cancer; Ionizing radiation; Radio-sensitivity
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This review investigates the potential risks of low-dose ionizing radiation to Lynch syndrome patients and explores the impact of CT imaging and radiotherapy. Limited experimental studies suggest that Lynch syndrome cells may be relatively resistant to radiation, but there is a lack of human data to draw firm conclusions.
The aim of this review is to investigate the literature pertaining to the potential risks of low-dose ionizing radiation to Lynch syndrome patients by use of computed tomography (CT), either diagnostic CT colonography (CTC), standard staging CT or CT surveillance. Furthermore, this review explores the potential risks of using radiotherapy for treatment of rectal cancer in these patients. No data or longitudinal observational studies of the impact of radiation exposure on humans with Lynch syndrome were identified. Limited experimental studies utilizing cell lines and primary cells exposed to both low and high radiation doses have been carried out to help determine radio-sensitivity associated with DNA mismatch repair gene deficiency, the defining feature of Lynch syndrome. On balance, these studies suggest that mismatch repair deficient cells may be relatively radio-resistant (particularly for low dose rate exposures) with higher mutation rates, albeit no firm conclusions can be drawn. Mouse model studies, though, showed an increased risk of developing colorectal tumors in mismatch repair deficient mice exposed to radiation doses around 2 Gy. With appropriate ethical approval, further studies investigating radiation risks associated with CT imaging and radiotherapy relevant doses using cells/tissues derived from confirmed Lynch patients or genetically modified animal models are urgently required for future clinical guidance.
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