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Teenage-Onset Colorectal Cancers in a Digenic Cancer Predisposition Syndrome Provide Clues for the Interaction between Mismatch Repair and Polymerase δ Proofreading Deficiency in Tumorigenesis.
Schamschula E, Kinzel M, Wernstedt A, Oberhuber K, Gottschling H, Schnaiter S, Friedrichs N, Merkelbach-Bruse S, Zschocke J, Gallon R, Wimmer K. Schamschula E, et al. Biomolecules. 2022 Sep 22;12(10):1350. doi: 10.3390/biom12101350. Biomolecules. 2022. PMID: 36291559 Free PMC article.
Constitutional mismatch repair deficiency is the diagnosis in 0.41% of pathogenic NF1/SPRED1 variant negative children suspected of sporadic neurofibromatosis type 1.
Perez-Valencia JA, Gallon R, Chen Y, Koch J, Keller M, Oberhuber K, Gomes A, Zschocke J, Burn J, Jackson MS, Santibanez-Koref M, Messiaen L, Wimmer K. Perez-Valencia JA, et al. Genet Med. 2020 Dec;22(12):2081-2088. doi: 10.1038/s41436-020-0925-z. Epub 2020 Aug 10. Genet Med. 2020. PMID: 32773772 Free PMC article.