Search Results - "ARETZ, Stefan"

Expanded Extracolonic Tumor Spectrum in MUTYH -Associated Polyposis by Vogt, Stefanie, Jones, Natalie, Christian, Daria, Engel, Christoph, Nielsen, Maartje, Kaufmann, Astrid, Steinke, Verena, Vasen, Hans F, Propping, Peter, Sampson, Julian R, Hes, Frederik J, Aretz, Stefan

“…Background & Aims MUTYH -associated polyposis (MAP) is characterized by a lifetime risk of colorectal cancer of up to 100%. However, no systematic evaluation…”
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Activating ERBB2/HER2 mutations indicate susceptibility to pan-HER inhibitors in Lynch and Lynch-like colorectal cancer by Kloth, Michael, Ruesseler, Vanessa, Engel, Christoph, Koenig, Katharina, Peifer, Martin, Mariotti, Erika, Kuenstlinger, Helen, Florin, Alexandra, Rommerscheidt-Fuss, Ursula, Koitzsch, Ulrike, Wodtke, Claudia, Ueckeroth, Frank, Holzapfel, Stefanie, Aretz, Stefan, Propping, Peter, Loeffler, Markus, Merkelbach-Bruse, Sabine, Odenthal, Margarete, Friedrichs, Nicolaus, Heukamp, Lukas Carl, Zander, Thomas, Buettner, Reinhard

“…Microsatellite instability (MSI) is detected in approximately 15% of all colorectal cancers (CRC) and virtually in all cases with Lynch syndrome. The MSI…”
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Cancer risks in Lynch syndrome, Lynch-like syndrome, and familial colorectal cancer type X: a prospective cohort study by Bucksch, Karolin, Zachariae, Silke, Aretz, Stefan, Büttner, Reinhard, Holinski-Feder, Elke, Holzapfel, Stefanie, Hüneburg, Robert, Kloor, Matthias, von Knebel Doeberitz, Magnus, Morak, Monika, Möslein, Gabriela, Nattermann, Jacob, Perne, Claudia, Rahner, Nils, Schmiegel, Wolff, Schulmann, Karsten, Steinke-Lange, Verena, Strassburg, Christian P, Vangala, Deepak B, Weitz, Jürgen, Loeffler, Markus, Engel, Christoph

“…Individuals with pathogenic germline variants in DNA mismatch repair (MMR) genes are at increased risk of developing colorectal, endometrial and other cancers…”
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Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis by Perne, Claudia, Peters, Sophia, Cartolano, Maria, Horpaopan, Sukanya, Grimm, Christina, Altmüller, Janine, Sommer, Anna K, Hillmer, Axel M, Thiele, Holger, Odenthal, Margarete, Möslein, Gabriela, Adam, Ronja, Sivalingam, Sugirthan, Kirfel, Jutta, Schweiger, Michal R, Peifer, Martin, Spier, Isabel, Aretz, Stefan

“…The spectrum of somatic genetic variation in colorectal adenomas caused by biallelic pathogenic germline variants in the MSH3 gene, was comprehensively…”
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MTHFR C677T and A1298C polymorphism’s effect on risk of colorectal cancer in Lynch syndrome by Wiik, Mariann Unhjem, Negline, Mia, Beisvåg, Vidar, Clapham, Matthew, Holliday, Elizabeth, Dueñas, Nuria, Brunet, Joan, Pineda, Marta, Bonifaci, Nuria, Aretz, Stefan, Klinkhammer, Hannah, Spier, Isabel, Perne, Claudia, Mayr, Andreas, Valle, Laura, Lubinski, Jan, Sjursen, Wenche, Scott, Rodney J., Talseth-Palmer, Bente A.

“…Lynch syndrome (LS) is characterised by an increased risk of developing colorectal cancer (CRC) and other extracolonic epithelial cancers. It is caused by…”
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Immune dysregulation in patients with PTEN hamartoma tumor syndrome: Analysis of FOXP3 regulatory T cells by Chen, Hannah H., DPhil, Händel, Norman, MD, Ngeow, Joanne, MD, Muller, James, PhD, Hühn, Michael, PhD, Yang, Huei-Ting, PhD, Heindl, Mario, MD, Berbers, Roos-Marijn, MSc, Hegazy, Ahmed N., MD, PhD, Kionke, Janina, MD, Yehia, Lamis, MSc, Sack, Ulrich, MD, Bläser, Frank, MD, Rensing-Ehl, Anne, MD, Reifenberger, Julia, MD, Keith, Julia, MSc, Travis, Simon, MD, PhD, Merkenschlager, Andreas, MD, Kiess, Wieland, MD, Wittekind, Christian, MD, Walker, Lisa, DPhil, Ehl, Stephan, MD, Aretz, Stefan, MD, Dustin, Michael L., PhD, Eng, Charis, MD, PhD, Powrie, Fiona, DPhil, Uhlig, Holm H., MD, DPhil

“…Background Patients with heterozygous germline mutations in phosphatase and tensin homolog deleted on chromosome 10 (PTEN) experience autoimmunity and lymphoid…”
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Clinical utility gene card for: MUTYH-associated polyposis (MAP), autosomal recessive colorectal adenomatous polyposis, multiple colorectal adenomas, multiple adenomatous polyps (MAP) - update 2012 by Aretz, Stefan, Genuardi, Maurizio, Hes, Frederik J

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Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome by Kuechler, Alma, Zink, Alexander M, Wieland, Thomas, Lüdecke, Hermann-Josef, Cremer, Kirsten, Salviati, Leonardo, Magini, Pamela, Najafi, Kimia, Zweier, Christiane, Czeschik, Johanna Christina, Aretz, Stefan, Endele, Sabine, Tamburrino, Federica, Pinato, Claudia, Clementi, Maurizio, Gundlach, Jasmin, Maylahn, Carina, Mazzanti, Laura, Wohlleber, Eva, Schwarzmayr, Thomas, Kariminejad, Roxana, Schlessinger, Avner, Wieczorek, Dagmar, Strom, Tim M, Novarino, Gaia, Engels, Hartmut

“…Intellectual disability (ID) has an estimated prevalence of 2-3%. Due to its extreme heterogeneity, the genetic basis of ID remains elusive in many cases…”
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Clinically relevant combined effect of polygenic background, rare pathogenic germline variants, and family history on colorectal cancer incidence by Hassanin, Emadeldin, Spier, Isabel, Bobbili, Dheeraj R, Aldisi, Rana, Klinkhammer, Hannah, David, Friederike, Dueñas, Nuria, Hüneburg, Robert, Perne, Claudia, Brunet, Joan, Capella, Gabriel, Nöthen, Markus M, Forstner, Andreas J, Mayr, Andreas, Krawitz, Peter, May, Patrick, Aretz, Stefan, Maj, Carlo

“…Summarised in polygenic risk scores (PRS), the effect of common, low penetrant genetic variants associated with colorectal cancer (CRC), can be used for risk…”
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Genome‐wide CNV analysis in 221 unrelated patients and targeted high‐throughput sequencing reveal novel causative candidate genes for colorectal adenomatous polyposis by Horpaopan, Sukanya, Spier, Isabel, Zink, Alexander M., Altmüller, Janine, Holzapfel, Stefanie, Laner, Andreas, Vogt, Stefanie, Uhlhaas, Siegfried, Heilmann, Stefanie, Stienen, Dietlinde, Pasternack, Sandra M., Keppler, Kathleen, Adam, Ronja, Kayser, Katrin, Moebus, Susanne, Draaken, Markus, Degenhardt, Franziska, Engels, Hartmut, Hofmann, Andrea, Nöthen, Markus M., Steinke, Verena, Perez‐Bouza, Alberto, Herms, Stefan, Holinski‐Feder, Elke, Fröhlich, Holger, Thiele, Holger, Hoffmann, Per, Aretz, Stefan

“…To uncover novel causative genes in patients with unexplained adenomatous polyposis, a model disease for colorectal cancer, we performed a genome‐wide analysis…”
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No evidence to support the impact of migration background on treatment response rates and cancer survival: a retrospective matched-pair analysis in Germany by Rüdiger, Roman, Geiser, Franziska, Ritter, Manuel, Brossart, Peter, Keyver-Paik, Mignon-Denise, Faridi, Andree, Vatter, Hartmut, Bootz, Friedrich, Landsberg, Jennifer, Kalff, Jörg C, Herrlinger, Ulrich, Kristiansen, Glen, Pietsch, Torsten, Aretz, Stefan, Thomas, Daniel, Radbruch, Lukas, Kramer, Franz-Josef, Strassburg, Christian P, Gonzalez-Carmona, Maria, Skowasch, Dirk, Essler, Markus, Schmid, Matthias, Nadal, Jennifer, Ernstmann, Nicole, Sharma, Amit, Funke, Benjamin, Schmidt-Wolf, Ingo G H

“…Immigration has taken the central stage in world politics, especially in the developed countries like Germany, where the continuous flow of immigrants has been…”
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High proportion of large genomic STK11 deletions in Peutz-Jeghers syndrome by Aretz, Stefan, Stienen, Dietlinde, Uhlhaas, Siegfried, Loff, Steffan, Back, Walter, Pagenstecher, Constanze, McLeod, D. Ross, Graham, Gail E., Mangold, Elisabeth, Santer, René, Propping, Peter, Friedl, Waltraut

“…Germline mutations in the STK11 gene have been identified in 10–70% of patients with Peutz‐Jeghers syndrome (PJS), an autosomal‐dominant hamartomatous…”
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A matched-pair analysis on survival and response rates between German and non-German cancer patients treated at a Comprehensive Cancer Center by Budde, Marie K, Kuhn, Walther, Keyver-Paik, Mignon-Denise, Bootz, Friedrich, Kalff, Jörg C, Müller, Stefan C, Bieber, Thomas, Brossart, Peter, Vatter, Hartmut, Herrlinger, Ulrich, Wirtz, Dieter C, Schild, Hans H, Kristiansen, Glen, Pietsch, Thorsten, Aretz, Stefan, Geiser, Franziska, Radbruch, Lukas, Reich, Rudolf H, Strassburg, Christian P, Skowasch, Dirk, Essler, Markus, Ernstmann, Nicole, Landsberg, Jennifer, Funke, Benjamin, Schmidt-Wolf, Ingo G H

“…Research shows disparities in cancer outcomes by ethnicity or socio-economic status. Therefore, it is the aim of our study to perform a matched-pair analysis…”
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Diagnostic yield and clinical utility of a comprehensive gene panel for hereditary tumor syndromes by Henn, Jonas, Spier, Isabel, Adam, Ronja S, Holzapfel, Stefanie, Uhlhaas, Siegfried, Kayser, Katrin, Plotz, Guido, Peters, Sophia, Aretz, Stefan

“…In a considerable number of patients with a suspected hereditary tumor syndrome (HTS), no underlying germline mutation is detected in the most likely affected…”
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Wnt genes in colonic polyposis predisposition by Quintana, Isabel, Terradas, Mariona, Mur, Pilar, te Paske, Iris B.A.W., Peters, Sophia, Spier, Isabel, Steinke-Lange, Verena, Maestro, Claudia, Torrents, David, Puiggròs, Montserrat, Royo, Romina, Tonda, Raul, Parra, Genís, Piscia, Davide, Beltrán, Sergi, Navarro, Matilde, Piñol, Virginia, Brunet, Joan, Gonzalez-Abuin, Noemi, Aiza, Gemma, Sommer, Anna, van Herwaarden, Yasmijn, Astuti, Galuh, Holinski-Feder, Elke, Hoogerbrugge, Nicoline, de Voer, Richarda M., Aretz, Stefan, Capellá, Gabriel, Valle, Laura

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Familial adenomatous polyposis: experience from a study of 1164 unrelated german polyposis patients by Friedl, Waltraut, Aretz, Stefan

“…The autosomal-dominant precancerous condition familial adenomatous polyposis (FAP) is caused by germline mutations in the tumour suppressor gene APC…”
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Aberrant splicing in MLH1 and MSH2 due to exonic and intronic variants by PAGENSTECHER, Constanze, WEHNER, Maria, MANGOLD, Elisabeth, FRIEDL, Waltraut, RAHNER, Nils, ARETZ, Stefan, FRIEDRICHS, Nicolaus, SENGTELLER, Marlies, HENN, Wolfram, BUETTNER, Reinhard, PROPPING, Peter

“…Single base substitutions in DNA mismatch repair genes which are predicted to lead either to missense or silent mutations, or to intronic variants outside the…”
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Chromoendoscopy in combination with random biopsies does not improve detection of gastric cancer foci in CDH1 mutation positive patients by Hüneburg, Robert, Marwitz, Tim, van Heteren, Peer, Weismüller, Tobias, Trebicka, Jonel, Adam, Ronja, Aretz, Stefan, Perez Bouza, Alberto, Pantelis, Dimitrios, Kalff, Jörg, Nattermann, Jacob, Strassburg, Cristian

“…Background and study aims: Hereditary diffuse gastric cancer (HGGC), an autosomal dominant tumor-syndrome, accounts for 1 % to 3 % of gastric cancers…”
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Exome sequencing characterizes the somatic mutation spectrum of early serrated lesions in a patient with serrated polyposis syndrome (SPS) by Horpaopan, Sukanya, Kirfel, Jutta, Peters, Sophia, Kloth, Michael, Hüneburg, Robert, Altmüller, Janine, Drichel, Dmitriy, Odenthal, Margarete, Kristiansen, Glen, Strassburg, Christian, Nattermann, Jacob, Hoffmann, Per, Nürnberg, Peter, Büttner, Reinhard, Thiele, Holger, Kahl, Philip, Spier, Isabel, Aretz, Stefan

“…Serrated or Hyperplastic Polyposis Syndrome (SPS, HPS) is a yet poorly defined colorectal cancer (CRC) predisposition characterised by the occurrence of…”
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Maternal de novo triple mosaicism for two single OCRL nucleotide substitutions (c.1736A>T, c.1736A>G) in a Lowe syndrome family by Draaken, Markus, Giesen, Carmen A., Kesselheim, Anne L., Jabs, Ronald, Aretz, Stefan, Kugaudo, Monika, Chrzanowska, Krystyna H., Krajewska-Walasek, Malgorzata, Ludwig, Michael

“…Since the identification of the Lowe’s oculocerebrorenal syndrome gene, more than 100 distinct OCRL mutations have been observed. Germline mosaicism has rarely…”
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