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000286670 1001_ $$00009-0004-0743-0756$$aWeijers, Dilys D$$b0
000286670 245__ $$aMolecular analysis of cancer genomes in children with Lynch syndrome: Exploring causal associations.
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000286670 520__ $$aLynch syndrome (LS) predisposes to cancer in adulthood and is caused by heterozygous germline variants in a mismatch repair (MMR) gene. Recent studies show an increased prevalence of LS among children with cancer, suggesting a causal relationship. For LS-spectrum (LSS) cancers, including high-grade gliomas and colorectal cancer, causality has been supported by typical MMR-related tumor characteristics, but for non-LSS cancers, causality is unclear. We characterized 20 malignant tumors of 18 children with LS, including 16 non-LSS tumors. We investigated second hits, tumor mutational load, mutational signatures and MMR protein expression. In all LSS tumors and three non-LSS tumors, we detected MMR deficiency caused by second hit somatic alterations. Furthermore, these MMR-deficient tumors carried driver variants that likely originated as a consequence of MMR deficiency. However, in 13 non-LSS tumors (81%), a second hit and MMR deficiency were absent, thus a causal link between LS and cancer development in these children is lacking. These findings demonstrate that causality of LS in children with cancer, which can be determined by molecular tumor characterization, seems to be restricted to specific tumor types. Large molecular and epidemiological studies are needed to further refine the tumor spectrum in children with LS.
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000286670 650_7 $$2Other$$aLynch syndrome
000286670 650_7 $$2Other$$acancer predisposition
000286670 650_7 $$2Other$$amismatch repair
000286670 650_7 $$2Other$$amutational signatures
000286670 650_7 $$2Other$$apediatric cancer
000286670 7001_ $$0P:(DE-He78)5e3d4de4b59cd068969e101847794267$$aHirsch, Steffen$$b1$$udkfz
000286670 7001_ $$aBakhuizen, Jette J$$b2
000286670 7001_ $$avan Engelen, Nienke$$b3
000286670 7001_ $$aKester, Lennart A$$b4
000286670 7001_ $$aKranendonk, Mariëtte E G$$b5
000286670 7001_ $$aHiemcke-Jiwa, Laura S$$b6
000286670 7001_ $$ade Vos-Kerkhof, Evelien$$b7
000286670 7001_ $$aLoeffen, Jan L C$$b8
000286670 7001_ $$0P:(DE-He78)50c2928009c788a6a5f3a0708dfb6df5$$aAutry, Robert$$b9$$udkfz
000286670 7001_ $$0P:(DE-He78)a7c1bbac024fa232d9c6b78443328d9d$$aPajtler, Kristian$$b10$$udkfz
000286670 7001_ $$0P:(DE-He78)bff9e3e3d86865d2b0836bb8f3ce98f3$$aJäger, Natalie$$b11$$udkfz
000286670 7001_ $$aJongmans, Marjolijn C J$$b12
000286670 7001_ $$aKuiper, Roland P$$b13
000286670 773__ $$0PERI:(DE-600)1474822-8$$a10.1002/ijc.34832$$gp. ijc.34832$$n8$$p1455-1463$$tInternational journal of cancer$$v154$$x0020-7136$$y2024
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