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Akademický článek

Assessing pathogenicity of mismatch repair variants of uncertain significance by molecular tumor analysis

Autor: Anne-Sophie van der Werf't Lam, Noah C. Helderman, Arnoud Boot, Diantha Terlouw, Hans Morreau, Hailian Mei, Rebecca E.E. Esveldt-van Lange, Inge M.M. Lakeman, Christi J. van Asperen, Emmelien Aten, Nandy Hofland, Pia A.M. de Koning Gans, Emily Rayner, Carli Tops, Niels de Wind, Tom van Wezel, Maartje Nielsen

Publikováno v: Experimental and Molecular Pathology, Vol 140, Iss , Pp 104940- (2024)

Functional analyses are the main method to classify mismatch repair (MMR) gene variants of uncertain significance (VUSs). However, the pathogenicity remains unclear for many variants because of conflicting results between clinical, molecular, and fun

Externí odkaz: https://doaj.org/article/495ee08f0dc6450c81f1b9f564d08794

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Akademický článek

Contribution of mRNA Splicing to Mismatch Repair Gene Sequence Variant Interpretation

Publikováno v: Frontiers in Genetics, Vol 11 (2020)

Functional assays that assess mRNA splicing can be used in interpretation of the clinical significance of sequence variants, including the Lynch syndrome-associated mismatch repair (MMR) genes. The purpose of this study was to investigate the contrib

Externí odkaz: https://doaj.org/article/9cc3036b8517473a900b9588e8069c13

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Supplementary Table 1 from Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort

Autor: Tom van Wezel, Hans Morreau, Juul T. Wijnen, Jeanine J. Houwing-Duistermaat, Ian Tomlinson, Richard Houlston, Frederik J. Hes, Hans F. A. Vasen, Peter Devilee, Carli Tops, Ronald van Eijk, Shantie Jagmohan-Changur, Anneke Middeldorp

Supplementary Table 1 from Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ba0c795cf389e52c8ad4965f83dfd21e
https://doi.org/10.1158/1055-9965.22435996

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Data from Enrichment of Low Penetrance Susceptibility Loci in a Dutch Familial Colorectal Cancer Cohort

Recent genome-wide association studies have identified several loci that confer an increased risk of colorectal cancer (CRC). We studied the role of the 8q24.21 (rs6983267), 18q21.1 (rs12953717), 15q13.3 (rs4779584), 11q23.1 (rs3802842), 8q23.3 (rs16

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bdff6a16329e8c5538d943278f5d0a3a
https://doi.org/10.1158/1055-9965.c.6515197.v1

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EXO1 variants occur commonly in normal population: evidence against a role in hereditary nonpolyposis colorectal cancer

Autor: Shantie, Jagmohan-Changur, Taija, Poikonen, Susa, Vilkki, Virpi, Launonen, Friedrik, Wikman, Torben F, Orntoft, Pål, Møller, Hans, Vasen, Carli, Tops, Richard D, Kolodner, Jukka-Pekka, Mecklin, Heikki, Järvinen, Stephen, Bevan, Richard S, Houlston, Lauri A, Aaltonen, Riccardo, Fodde, Juul, Wijnen, Auli, Karhu

Publikováno v: Cancer research. 63(1)

Mutations in the currently known mismatch repair genes cannot explain all cases of hereditary nonpolyposis colorectal cancer (HNPCC), and novel predisposing genes are actively sought. Recently, mutations in the DNA repair gene EXO1 have been implicat

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::03841b386cdb15e300627f0de8c74f02
https://pubmed.ncbi.nlm.nih.gov/12517792

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