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Heritable somatic methylation and inactivation of MSH2 in families with Lynch syndrome due to deletion of the 3′ exons of TACSTD1
Abstract
Lynch syndrome patients are susceptible to colorectal and endometrial cancers owing to inactivating germline mutations in mismatch repair genes, including MSH2 (ref. 1). Here we describe patients from Dutch and Chinese families with MSH2-deficient tumors carrying heterozygous germline deletions of the last exons of TACSTD1, a gene directly upstream of MSH2 encoding Ep-CAM. Due to these deletions, transcription of TACSTD1 extends into MSH2. The MSH2 promoter in cis with the deletion is methylated in Ep-CAM positive but not in Ep-CAM negative normal tissues, thus revealing a correlation between activity of the mutated TACSTD1 allele and epigenetic inactivation of the corresponding MSH2 allele. Gene silencing by transcriptional read-through of a neighboring gene in either sense, as demonstrated here, or antisense direction, could represent a general mutational mechanism. Depending on the expression pattern of the neighboring gene that lacks its normal polyadenylation signal, this may cause either generalized or mosaic patterns of epigenetic inactivation.
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“In these cases, the abnormal DNA methylation of the gene under investigation was linked to a mutation in a neighboring gene that removed the transcription termination signal (Fig. 1b).”
From A critical view on transgenerational epigenetic inheritance in humans (2018) · cites this paper as [16]
In the citing paper
“Several studies14–16 including a recent study by Guéant et al.18 in this journal, have reported the co-segregation of an abnormal DNA methylation pattern (called “epimutation”) with a rare disease in two or more generations of certain families.”
From A critical view on transgenerational epigenetic inheritance in humans (2018) · cites this paper as [16]
In the citing paper
“Most cases of segregation of abnormal DNA methylation patterns in families with rare diseases, however, turned out to be caused by an underlying genetic variant14–16 (see below).”
From A critical view on transgenerational epigenetic inheritance in humans (2018) · cites this paper as [16]
In the citing paper
“As a consequence, transcription from this gene extended into the gene under investigation, causing abnormal promoter methylation and gene silencing.”
From A critical view on transgenerational epigenetic inheritance in humans (2018) · cites this paper as [16]
Citations
Cites
Beighton, P., & Beighton, G. (1997) · Springer eBooks · doi:10.1007/978-1-4471-0925-9_118 · Cited by 3,165
Lynch, H. T., & de la Chapelle, A. (2003) · New England Journal of Medicine · doi:10.1056/nejmra012242 · Cited by 2,240
Incidence and functional consequences of hMLH1 promoter hypermethylation in colorectal carcinoma
Herman, J. G., Umar, A., Polyák, K., Graff, J. R., Ahuja, N., Issa, J. J., Markowitz, S. D., Willson, J. K. V., Hamilton, S. R., Kinzler, K. W., et al. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.12.6870 · Cited by 1,887
Kane, M., Loda, M. F., Gaida, G. M., Lipman, J., Mishra, R., Goldman, H., Jessup, J. M., & Kolodner, R. D. (1997) · PubMed · Cited by 1,476
Epigenetic silencing of tumour suppressor gene p15 by its antisense RNA
Yu, W., Gius, D. R., Onyango, P. O., Muldoon‐Jacobs, K., Karp, J. E., Feinberg, A. P., & Cui, H. (2008) · Nature · doi:10.1038/nature06468 · Cited by 801
Tufarelli, C., Stanley, J. A. S., Garrick, D., Sharpe, J. A., Ayyub, H., Wood, W. G., & Higgs, D. R. (2003) · Nature Genetics · doi:10.1038/ng1157 · Cited by 547
Germline epimutation of MLH1 in individuals with multiple cancers
Suter, C. M., Martin, D. I. K., & Ward, R. L. (2004) · Nature Genetics · doi:10.1038/ng1342 · Cited by 475
Inheritance of a Cancer-Associated MLH1 Germ-Line Epimutation
Hitchins, M. P., Wong, J. J. L., Suthers, G., Suter, C. M., Martin, D. I. K., Hawkins, N. J., & Ward, R. L. (2007) · New England Journal of Medicine · doi:10.1056/nejmoa064522 · Cited by 409
Heritable germline epimutation of MSH2 in a family with hereditary nonpolyposis colorectal cancer
Chan, T. L., Yuen, S. T., Kong, C. K., Chan, Y. W., Chan, A. S., Ng, W. F., Tsui, W. Y., Lo, M. W., Tam, W. Y., Li, V. S., et al. (2006) · Nature Genetics · doi:10.1038/ng1866 · Cited by 324
Self-citationNew perspectives on connecting messenger RNA 3′ end formation to transcription
Proudfoot, N. J. (2004) · Current Opinion in Cell Biology · doi:10.1016/j.ceb.2004.03.007 · Cited by 285
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Micromanaging the Classification of Colon Cancer: The Role of the microRNAome
Vilar, E., Tabernero, J. M., & Gruber, S. B. (2011) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-11-2440 · Cited by 14
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Das, B., Okamoto, K., Rabalais, J., Kozan, P. A., Marchelletta, R. R., McGeough, M. D., Durali, N., Go, M., Barrett, K. E., Das, S., et al. (2019) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00098.2019 · Cited by 13
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Lee, M. P. (2012) · Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms · doi:10.1016/j.bbagrm.2012.02.007 · Cited by 15
Mukherjee, A., McGarrity, T. J., Ruggiero, F. M., Koltun, W. A., McKenna, K. J., Poritz, L. S., & Baker, M. J. (2010) · Hereditary Cancer in Clinical Practice · doi:10.1186/1897-4287-8-9 · Cited by 13
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Walker, R., Georgeson, P., Mahmood, K., Joo, J. E., Makalic, E., Clendenning, M., Como, J., Preston, S., Joseland, S. L., Pope, B. J., et al. (2022) · Journal of Molecular Diagnostics · doi:10.1016/j.jmoldx.2022.10.003 · Cited by 13
Pelizzo, M. R., Pennelli, G., Zane, M., Galuppini, F., Colletti, P. M., Boschin, I. M., & Rubello, D. (2015) · Biomedicine & Pharmacotherapy · doi:10.1016/j.biopha.2015.06.008 · Cited by 13
Venkatachalam, R., Ligtenberg, M. J. L., Hoogerbrugge, N., van Kessel, A. G., & Kuiper, R. P. (2008) · Cytogenetic and Genome Research · doi:10.1159/000184708 · Cited by 13
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Borràs, E., Chang, K., Pande, M., Cuddy, A., Bosch, J. L., Bannon, S. A., Mork, M. E., Rodrı́guez-Bigas, M. A., Taggart, M. W., Lynch, P. M., et al. (2017) · Cancer Prevention Research · doi:10.1158/1940-6207.capr-17-0058 · Cited by 13
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Lin, D., Zou, S., Jin, X., Lu, H., Zhang, Y., Guo, L., Cai, J., & Ying, J. (2021) · Frontiers in Oncology · doi:10.3389/fonc.2021.627460 · Cited by 12
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Lynch, H. T., & Lynch, J. F. (2010) · Journal of Medical Genetics · doi:10.1136/jmg.2010.078170 · Cited by 9
Dekker, N., van Dorst, E. B. L., van der Luijt, R. B., van Gijn, M. E., van Tuil, M. C., Offerhaus, G. J. A., & Ausems, M. G. E. M. (2012) · Journal of Genetic Counseling · doi:10.1007/s10897-012-9553-3 · Cited by 9
Eguchi, H., Kumamoto, K., Suzuki, O., Kohda, M., Tada, Y., Okazaki, Y., & Ishida, H. (2015) · Japanese Journal of Clinical Oncology · doi:10.1093/jjco/hyv172 · Cited by 9
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Pasche, B., Pennison, M. J., & DeYoung, B. R. (2016) · JAMA · doi:10.1001/jama.2016.8291 · Cited by 9
Database, P. L. S., Zalevskaja, K., Ojala, K., Petrov, A., Haupt, S., Sunde, L., Bernstein, I., Jenkins, M. A., Aretz, S., Nielsen, M., et al. (2025) · British journal of surgery · doi:10.1093/bjs/znaf061 · Cited by 8
How Can Next-Generation Sequencing (Genomics) Help Us in Treating Colorectal Cancer?
Ciombor, K. K., Haraldsdóttir, S., & Goldberg, R. M. (2014) · Current Colorectal Cancer Reports · doi:10.1007/s11888-014-0244-3 · Cited by 8
Follow-up recommendations and risk-reduction initiatives for Lynch syndrome
Guillén‐Ponce, C., Molina‐Garrido, M., & Carrato, A. (2012) · Expert Review of Anticancer Therapy · doi:10.1586/era.12.114 · Cited by 8
Colorectal cancer molecular profiling: from IHC to NGS in search of optimal algorithm
Furtado, L. V., & Samowitz, W. S. (2017) · Archiv für Pathologische Anatomie und Physiologie und für Klinische Medicin · doi:10.1007/s00428-017-2153-8 · Cited by 8
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Jiang, Y., Sun, Y., Hu, J., Yu, N., Liu, H., Fan, J., Ning, X., Li, Y., Liu, B., Sun, Y., et al. (2019) · BMC Cancer · doi:10.1186/s12885-019-5845-4 · Cited by 8
Pre- and postassessment of nurse practitioners' knowledge of hereditary colorectal cancer
Edwards, Q. T., Maradiegue, A. H., Seibert, D. C., & Jasperson, K. W. (2011) · Journal of the American Academy of Nurse Practitioners · doi:10.1111/j.1745-7599.2011.00625.x · Cited by 8
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Masson, A. L., Talseth‐Palmer, B. A., Evans, T., Grice, D. M., Duesing, K., Hannan, G. N., & Scott, R. J. (2013) · Genes · doi:10.3390/genes4040536 · Cited by 8
Wielders, E., Houlleberghs, H., Isik, G., & Riele, H. T. (2013) · PLoS ONE · doi:10.1371/journal.pone.0074766 · Cited by 8
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Piñero, T. A., Soukarieh, O., Rolain, M., Álvarez, K., López-Köstner, F., Torrezan, G. T., Carraro, D. M., Nascimento, I., Bomfim, T. F., Machado-Lopes, T. M. B., et al. (2020) · Familial Cancer · doi:10.1007/s10689-020-00182-5 · Cited by 8
Walsh, M. F., Cadoo, K. A., Salo‐Mullen, E. E., Dubard-Gault, M. E., Stadler, Z. K., & Offit, K. (2020) · Elsevier eBooks · doi:10.1016/b978-0-323-47674-4.00013-x · Cited by 10
Eikenboom, E. L., van Leeuwen, L., Groenendijk, F. H., Woolderink, J. M., van Altena, A. M., van Leerdam, M. E., Spaander, M. C. W., van Doorn, H. C., Wagner, A., Breijer, M. C., et al. (2024) · EClinicalMedicine · doi:10.1016/j.eclinm.2024.103006 · Cited by 7
Molecular testing in colorectal cancer
Thomas, J. S., & Shi, C. (2023) · Elsevier eBooks · doi:10.1016/b978-0-12-822824-1.00018-3 · Cited by 7
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von Salomé, J., Liu, T., Keihäs, M., Morak, M., Holinski‐Feder, E., Berry, I. R., Moilanen, J. S., Baert‐Desurmont, S., Lindblom, A., & Lagerstedt‐Robinson, K. (2017) · Familial Cancer · doi:10.1007/s10689-017-0067-x · Cited by 7
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Metadata
- Authors
- Ligtenberg, M. J. L., Kuiper, R. P., Chan, T. L., Goossens, M., Hebeda, K. M., Voorendt, M., Lee, T. Y. H., Bodmer, D., Hoenselaar, E., Hendriks-Cornelissen, S. J. B., Tsui, W. Y., Kong, C. K., Brunner, H. G., van Kessel, A. G., Yuen, S. T., van Krieken, J. H. J. M., Leung, S. Y., & Hoogerbrugge, N.
- Affiliations
- Radboud University Medical Center (NL)
- Queen Mary Hospital (CN)
- Yan Chai Hospital (HK)
- Corresponding author
- Ligtenberg, Marjolijn J L
- Leung, Suet Yi
- ORCID
- Venue
- Nature Genetics
- Published
- 2008-12-21
- Volume
- 41
- Issue
- 1
- Pages
- 112-117
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1972254989
- Cited by
- 818
- References
- 25
- Citations by year
- 2026: 19 · 2025: 34 · 2024: 38 · 2023: 45 · 2022: 34 · 2021: 41 · 2020: 59 · 2019: 44 · 2018: 54 · 2017: 51 · 2016: 56 · 2015: 46 · 2014: 59 · 2013: 71 · 2012: 49
- FWCI
- 27.68
- Type
- journal article
- Language
- en
- Open access
- closed
- Licence
- www.springer.com/tdm (tdm)
- Locations
- Nature Genetics (publishedVersion)
- PubMed (publishedVersion)
- The HKU Scholars Hub (University of Hong Kong) (submittedVersion)
- Radboud Repository (Radboud University) (submittedVersion)
- Topics
- Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Epigenetics and DNA Methylation
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › DNA Repair Mechanisms
- Keywords
- Lynch syndrome, MSH2, EpCAM, germline deletion, read-through transcription, epigenetic silencing, mismatch repair genes, colorectal cancer, endometrial cancer, polyadenylation signal, gene silencing
- MeSH terms
- Epithelial Cell Adhesion Molecule, Adolescent, Adult, Alleles, Antigens, Neoplasm, Base Sequence, China, Colorectal Neoplasms, Hereditary Nonpolyposis, Exons, Family, Female, Humans, Male, Middle Aged, Molecular Sequence Data, Netherlands, Pedigree, Promoter Regions, Genetic, Cell Adhesion Molecules, Open Reading Frames, Sequence Deletion, DNA Methylation, Inheritance Patterns, White People, Asian People, MutS Homolog 2 Protein, Microsatellite Instability
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