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OJFSGW+STIX-Regular Type 1C WinAnsi yes yes yes 103 0 Jhove (Rel. 1.28.0, 2023-05-18) Date: 2026-04-10 04:40:48 CEST RepresentationInformation: 326944.pdf ReportingModule: PDF-hul, Rel. 1.12.4 (2023-03-16) LastModified: 2026-04-09 10:55:12 CEST Size: 4872628 Format: PDF Version: 1.4 Status: Well-Formed and valid SignatureMatches: PDF-hul MIMEtype: application/pdf PDFMetadata: Objects: 756 FreeObjects: 1 IncrementalUpdates: 0 DocumentCatalog: ViewerPreferences: HideToolbar: false HideMenubar: false HideWindowUI: false FitWindow: false CenterWindow: false DisplayDocTitle: false NonFullScreenPageMode: UseNone Direction: L2R ViewArea: CropBox ViewClip: CropBox PrintArea: CropBox PageClip: CropBox PageLayout: SinglePage PageMode: UseOutlines Language: EN Outlines: Item: Title: Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer Children: Item: Title: Abstract Children: Item: Title: Background Item: Title: Results Item: Title: Conclusions Item: Title: Background Item: Title: Methods Children: Item: Title: Patients Item: Title: Genome-wide methylation profiling Item: Title: Whole-genome sequencing Item: Title: Somatic LTBP4 CpG methylation in colorectal cancer and paired normal colon mucosa, and correlation of LTBP4 methylation with LTBP4 expression in tumors Item: Title: Methylation-specific PCR-based sequencing Item: Title: BRCA1 promoter methylation evaluation by pyrosequencing Item: Title: LTBP4 mutational status Item: Title: Prediction of HRD from H&E tumor histology slides Item: Title: Tumor multi-gene panel analysis Children: Item: Title: Mutational signature analysis Item: Title: Results Children: Item: Title: Constitutional genome-wide methylation analysis in genetically unexplained familial  andor early-onset CRC patients Item: Title: Constitutional methylation of CpG island 102 in LTBP4 in an early-onset CRC patient Item: Title: CpG island 102 somatic methylation correlates with LTBP4 downregulation in colorectal cancers Item: Title: Constitutional LTBP4 CpG island 102 methylation and germline LTBP4 variants in unsolved familial andor early-onset colorectal cancer patients Item: Title: Low-level constitutional methylation of the BRCA1 promoter in an early-onset CRC patient Item: Title: Discussion Item: Title: Conclusions Item: Title: References Info: Title: Constitutional epimutations in LTBP4, a component of the TGF-β signaling, and in BRCA1, as potential drivers of early-onset colorectal cancer Author: Mariona Terradas Subject: Clinical Epigenetics, https://doi.org/10.1186/s13148-025-01924-x Keywords: Hereditary cancer; Promoter methylation; Constitutional epimutation; Early-onset colorectal cancer; LTBP4; BRCA1 Creator: Springer Producer: Acrobat Distiller 10.1.8 (Windows); modified using iText® 5.5.13.4 ©2000-2024 iText Group NV (SPRINGER SBM; licensed version) CreationDate: Sat Oct 18 03:53:16 CEST 2025 ModDate: Wed Nov 05 12:24:14 CET 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potential drivers of early-onset colorectal cancer Mariona Terradas Pilar Mur Francisco D. Morón-Duran Pol Mengod Chiara M. L. Löffler Noah C. Helderman Diantha Terlouw Xavier Sanjuán Pablo Bousquets-Muñoz Julen Viana-Errasti Xose S. 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