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3. NCT/DKFZ MASTER handbook of interpreting whole-genome, transcriptome, and methylome data for precision oncology

Author

Mock, Andreas, Teleanu, Maria-Veronica, Kreutzfeldt, Simon, Heilig, Christoph E., Hüllein, Jennifer, Möhrmann, Lino, Jahn, Arne, Hanf, Dorothea, Kerle, Irina A., Singh, Hans Martin, Hutter, Barbara, Uhrig, Sebastian, Fröhlich, Martina, Neumann, Olaf, Hartig, Andreas, Brückmann, Sascha, Hirsch, Steffen, Grund, Kerstin, Dikow, Nicola, Lipka, Daniel B., Renner, Marcus, Bhatti, Irfan Ahmed, Apostolidis, Leonidas, Schlenk, Richard F., Schaaf, Christian P., Stenzinger, Albrecht, Schröck, Evelin, Hübschmann, Daniel, Heining, Christoph, Horak, Peter, Glimm, Hanno, and Fröhling, Stefan

Published
2023
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4. De novo PHF5A variants are associated with craniofacial abnormalities, developmental delay, and hypospadias

Author

Harms, Frederike L., Dingemans, Alexander J.M., Hempel, Maja, Pfundt, Rolph, Bierhals, Tatjana, Casar, Christian, Müller, Christian, Niermeijer, Jikke-Mien F., Fischer, Jan, Jahn, Arne, Hübner, Christoph, Majore, Silvia, Agolini, Emanuele, Novelli, Antonio, van der Smagt, Jasper, Ernst, Robert, van Binsbergen, Ellen, Mancini, Grazia M.S., van Slegtenhorst, Marjon, Barakat, Tahsin Stefan, Wakeling, Emma L., Kamath, Arveen, Downie, Lilian, Pais, Lynn, White, Susan M., de Vries, Bert B.A., and Kutsche, Kerstin

Published
2023
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6. A clinical screening tool to detect genetic cancer predisposition in pediatric oncology shows high sensitivity but can miss a substantial percentage of affected children

Author

Friedrich, Ulrike A., Bienias, Marc, Zinke, Claudia, Prazenicova, Maria, Lohse, Judith, Jahn, Arne, Menzel, Maria, Langanke, Jonas, Walter, Carolin, Wagener, Rabea, Brozou, Triantafyllia, Varghese, Julian, Dugas, Martin, Erlacher, Miriam, Schröck, Evelin, Suttorp, Meinolf, Borkhardt, Arndt, Hauer, Julia, and Auer, Franziska

Published
2023
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7. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Author

Duijkers, Floor, Giltay, Jacques C., van Hest, Liselotte P., Kleefstra, Tjitske, Leter, Edward M., Nielsen, Maartje, Nijmeijer, Sebastiaan W.R., Olderode-Berends, Maran J.W., Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Venselaar, Hanka, Aretz, Stefan, Spier, Isabel, Legius, Eric, Brems, Hilde, de Putter, Robin, Claes, Kathleen B.M., Evans, D. Gareth, Woodward, Emma R., Genuardi, Maurizio, Brugnoletti, Fulvia, van Ierland, Yvette, Dijke, Kim, Tham, Emma, Tesi, Bianca, Schuurs-Hoeijmakers, Janneke H.M., Branchaud, Maud, Salvador, Hector, Jahn, Arne, Schnaiter, Simon, Anastasiadou, Violetta Christophidou, Brunet, Joan, Oliveira, Carla, Roht, Laura, Blatnik, Ana, Irmejs, Arvids, Mensenkamp, Arjen R., and Vos, Janet R.

Published
2022
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9. Comprehensive genomic and epigenomic analysis in cancer of unknown primary guides molecularly-informed therapies despite heterogeneity

Author

Möhrmann, Lino, Werner, Maximilian, Oleś, Małgorzata, Mock, Andreas, Uhrig, Sebastian, Jahn, Arne, Kreutzfeldt, Simon, Fröhlich, Martina, Hutter, Barbara, Paramasivam, Nagarajan, Richter, Daniela, Beck, Katja, Winter, Ulrike, Pfütze, Katrin, Heilig, Christoph E., Teleanu, Veronica, Lipka, Daniel B., Zapatka, Marc, Hanf, Dorothea, List, Catrin, Allgäuer, Michael, Penzel, Roland, Rüter, Gina, Jelas, Ivan, Hamacher, Rainer, Falkenhorst, Johanna, Wagner, Sebastian, Brandts, Christian H., Boerries, Melanie, Illert, Anna L., Metzeler, Klaus H., Westphalen, C. Benedikt, Desuki, Alexander, Kindler, Thomas, Folprecht, Gunnar, Weichert, Wilko, Brors, Benedikt, Stenzinger, Albrecht, Schröck, Evelin, Hübschmann, Daniel, Horak, Peter, Heining, Christoph, Fröhling, Stefan, and Glimm, Hanno

Published
2022
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10. Biallelic UBE4A loss-of-function variants cause intellectual disability and global developmental delay

Author

Melo, Uirá Souto, Bonner, Devon, Kent Lloyd, Kevin C., Moshiri, Ala, Willis, Brandon, Lanoue, Louise, Bower, Lynette, Leonard, Brian C., Martins, Davi Jardim, Gomes, Fernando, de Souza Leite, Felipe, Oliveira, Danyllo, Kitajima, João Paulo, Monteiro, Fabiola P., Zatz, Mayana, Menck, Carlos Frederico Martins, Wheeler, Matthew T., Bernstein, Jonathan A., Dumas, Kevin, Spiteri, Elizabeth, Di Donato, Nataliya, Jahn, Arne, Hashem, Mais, Alsaif, Hessa S., Chedrawi, Aziza, Alkuraya, Fowzan S., Kok, Fernando, and Byers, Heather M.

Published
2021
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11. Identification of Succinate Dehydrogenase Gene Variant Carriers by Blood Biomarkers.

Author

Gebhardt, Marcel, Kunath, Carola, Fröbel, Dennis, Funk, Alexander M, Peitzsch, Mirko, Nölting, Svenja, Deutschbein, Timo, Januszewicz, Andrzej, Timmers, Henri J L M, Robledo, Mercedes, Jahn, Arne, Constantinescu, Georgiana, Eisenhofer, Graeme, Pamporaki, Christina, and Richter, Susan

Subjects
MONONUCLEAR leukocytes, NUCLEAR magnetic resonance spectroscopy, RECEIVER operating characteristic curves, BLOOD plasma, SUCCINATE dehydrogenase
Abstract

Background Carriers of germline pathogenic variants (PVs) in succinate dehydrogenase genes (SDHx) are at risk of developing tumors, including paragangliomas, gastrointestinal stromal tumors, and renal cell carcinomas. Early tumor detection is paramount for improved clinical outcome. Blood-based biomarkers could aid in identifying individuals with PVs early and provide functional evidence in patients with variants of unknown significance. Methods Blood plasma, urine, peripheral blood mononuclear cells, and erythrocytes from patients with and without SDHx PVs were investigated for central carbon metabolites. These were measured by liquid chromatography–tandem mass spectrometry and nuclear magnetic resonance spectroscopy and included among others, succinate, fumarate, α-ketoglutarate, and lactate. Results Plasma succinate to fumarate ratios effectively distinguished tumor-bearing and asymptomatic patients with and without SDHx PV with promising diagnostic performance (areas under the receiver operating characteristic curve 0.86-0.95), although higher levels were noted in individuals with SDHB PV. Metabolites in urine and in peripheral blood mononuclear cell extracts were largely similar between groups. Erythrocytes showed strong metabolic alterations in patients with SDHx PV compared to controls, with 8 of 13 low-molecular organic acids being significantly different (P <.05). The lactate-α-ketoglutarate-ratio of erythrocytes identified individuals with SDHx PV equally well as plasma, with a sensitivity and specificity of 92% (AUC 0.97). Conclusion Blood biomarkers have been underutilized for identifying carriers of SDHx PV or to validate variants of unknown significance. Our findings advocate for further investigation into a combined approach involving plasma and erythrocytes for future diagnostic strategies. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Metastatic adult pancreatoblastoma: Multimodal treatment and molecular characterization of a very rare disease

Author

Berger, Anne Katrin, Mughal, Sadaf Shabbir, Allgäuer, Michael, Springfeld, Christoph, Hackert, Thilo, Weber, Tim Frederik, Naumann, Patrick, Hutter, Barbara, Horak, Peter, Jahn, Arne, Schröck, Evelin, Haag, Georg Martin, Apostolidis, Leonidas, Jäger, Dirk, Stenzinger, Albrecht, Fröhling, Stefan, Glimm, Hanno, and Heining, Christoph

Published
2020
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13. Mismatch repair deficiency and microsatellite instability in adrenocortical carcinoma: Diagnosis, prevalence, and clinical impact

Author

Altieri, Barbara, primary, Herterich, Sabine, additional, Kircher, Stefan, additional, Jahn, Arne, additional, Teleanu, Maria-Veronica, additional, Lippert, Juliane, additional, Landwehr, Laura-Sophie, additional, Kimpel, Otilia, additional, Reuter, Miriam, additional, Remde, Hanna, additional, Stenzinger, Albrecht, additional, Glimm, Hanno, additional, Bargou, Ralf, additional, Froehling, Stefan, additional, Ronchi, Cristina L, additional, Appenzeller, Silke, additional, Fassnacht, Martin, additional, and Matthias, Kroiss, additional

Published
2024
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14. Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)

Author

Hendricks, Linda A.J., Verbeek, Katja C.J., Schuurs-Hoeijmakers, Janneke H.M., Mensenkamp, Arjen R., Brems, Hilde, de Putter, Robin, Anastasiadou, Violetta C., Villy, Marie Charlotte, Jahn, Arne, Steinke-Lange, Verena, Baldassarri, Margherita, Irmejs, Arvids, de Jong, Mirjam M., Links, Thera P., Leter, Edward M., Bosch, Daniëlle G.M., Høberg-Vetti, Hildegunn, Tveit Haavind, Marianne, Jørgensen, Kjersti, Mæhle, Lovise, Blatnik, Ana, Brunet, Joan, Darder, Esther, Tham, Emma, Hoogerbrugge, Nicoline, Vos, Janet R., Hendricks, Linda A.J., Verbeek, Katja C.J., Schuurs-Hoeijmakers, Janneke H.M., Mensenkamp, Arjen R., Brems, Hilde, de Putter, Robin, Anastasiadou, Violetta C., Villy, Marie Charlotte, Jahn, Arne, Steinke-Lange, Verena, Baldassarri, Margherita, Irmejs, Arvids, de Jong, Mirjam M., Links, Thera P., Leter, Edward M., Bosch, Daniëlle G.M., Høberg-Vetti, Hildegunn, Tveit Haavind, Marianne, Jørgensen, Kjersti, Mæhle, Lovise, Blatnik, Ana, Brunet, Joan, Darder, Esther, Tham, Emma, Hoogerbrugge, Nicoline, and Vos, Janet R.

Abstract

Females with PTEN Hamartoma Tumor Syndrome (PHTS) have breast cancer risks up to 76%. This study assessed associations between breast cancer and lifestyle in European female adult PHTS patients. Data were collected via patient questionnaires (July 2020–March 2023) and genetic diagnoses from medical files. Associations between lifestyle and breast cancer were calculated using logistic regression corrected for age. Index patients with breast cancer before PHTS diagnosis (breast cancer index) were excluded for ascertainment bias correction. In total, 125 patients were included who completed the questionnaire at a mean age of 44 years (SD = 13). This included 21 breast cancer indexes (17%) and 39 females who developed breast cancer at 43 years (SD = 9). Breast cancer patients performed about 1.1 times less often 0–1 times/week physical activity than ≥2 times (ORtotal-adj = 0.9 (95%CI 0.3–2.6); consumed daily about 1.2–1.8 times more often ≥1 than 0–1 glasses of alcohol (ORtotal-adj = 1.2 (95%CI 0.4–4.0); ORnon-breastcancer-index-adj = 1.8 (95%CI 0.4–6.9); were about 1.04–1.3 times more often smokers than non-smokers (ORtotal-adj = 1.04 (95%CI 0.4–2.8); ORnon-breastcancer-index-adj = 1.3 (95%CI 0.4–4.2)); and overweight or obesity (72%) was about 1.02–1.3 times less common (ORtotal-adj = 0.98 (95%CI 0.4–2.6); ORnon-breastcancer-index-adj = 0.8 (95%CI 0.3–2.7)). Similar associations between lifestyle and breast cancer are suggested for PHTS and the general population. Despite not being statistically significant, results are clinically relevant and suggest that awareness of the effects of lifestyle on patients’ breast cancer risk is important.

Published
2024

15. Lifestyle Factors and Breast Cancer in Females with PTEN Hamartoma Tumor Syndrome (PHTS)

Author

Hendricks, Linda A. J., primary, Verbeek, Katja C. J., additional, Schuurs-Hoeijmakers, Janneke H. M., additional, Mensenkamp, Arjen R., additional, Brems, Hilde, additional, de Putter, Robin, additional, Anastasiadou, Violetta C., additional, Villy, Marie-Charlotte, additional, Jahn, Arne, additional, Steinke-Lange, Verena, additional, Baldassarri, Margherita, additional, Irmejs, Arvids, additional, de Jong, Mirjam M., additional, Links, Thera P., additional, Leter, Edward M., additional, Bosch, Daniëlle G. M., additional, Høberg-Vetti, Hildegunn, additional, Tveit Haavind, Marianne, additional, Jørgensen, Kjersti, additional, Mæhle, Lovise, additional, Blatnik, Ana, additional, Brunet, Joan, additional, Darder, Esther, additional, Tham, Emma, additional, Hoogerbrugge, Nicoline, additional, and Vos, Janet R., additional

Published
2024
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18. The landscape of chromothripsis across adult cancer types

Author

Voronina, Natalia, Wong, John K. L., Hübschmann, Daniel, Hlevnjak, Mario, Uhrig, Sebastian, Heilig, Christoph E., Horak, Peter, Kreutzfeldt, Simon, Mock, Andreas, Stenzinger, Albrecht, Hutter, Barbara, Fröhlich, Martina, Brors, Benedikt, Jahn, Arne, Klink, Barbara, Gieldon, Laura, Sieverling, Lina, Feuerbach, Lars, Chudasama, Priya, Beck, Katja, Kroiss, Matthias, Heining, Christoph, Möhrmann, Lino, Fischer, Andrea, Schröck, Evelin, Glimm, Hanno, Zapatka, Marc, Lichter, Peter, Fröhling, Stefan, and Ernst, Aurélie

Published
2020
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20. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

Author

Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Mensenkamp, Arjen R., Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Haavind, Marianne Tveit, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P., Olderode-Berends, Maran J.W., Blatnik, Ana, Leter, Edward M., Evans, D. Gareth, Woodward, Emma R., Steinke-Lange, Verena, Anastasiadou, Violetta C., Colas, Chrystelle, Villy, Marie Charlotte, Benusiglio, Patrick R., Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M. Omer, van der Post, Rachel S., Schuurs-Hoeijmakers, Janneke H.M., Vos, Janet R., Duijkers, Floor, van Ierland, Yvette, Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Mensenkamp, Arjen R., Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Haavind, Marianne Tveit, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P., Olderode-Berends, Maran J.W., Blatnik, Ana, Leter, Edward M., Evans, D. Gareth, Woodward, Emma R., Steinke-Lange, Verena, Anastasiadou, Violetta C., Colas, Chrystelle, Villy, Marie Charlotte, Benusiglio, Patrick R., Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M. Omer, van der Post, Rachel S., Schuurs-Hoeijmakers, Janneke H.M., Vos, Janet R., Duijkers, Floor, and van Ierland, Yvette

Abstract

Background: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current risks are likely overestimated due to ascertainment bias. We aimed to provide more accurate and personalized cancer risks. Methods: This was a European, adult PHTS cohort study with data from medical files, registries, and/or questionnaires. Cancer risks and hazard ratios were assessed with Kaplan-Meier and Cox regression analyses, and standardized incidence ratios were calculated. Bias correction consisted of excluding cancer index cases and incident case analyses. Results: A total of 455 patients were included, including 50.5% index cases, 372 with prospective follow-up (median 6 years, interquartile range ¼ 3-10 years), and 159 of 281 females and 39 of 174 males with cancer. By age 60 years, PHTS-related cancer risk was higher in females (68.4% to 86.3%) than males (16.4% to 20.8%). Female BC risks ranged from 54.3% (95% confidence interval [CI] ¼ 43.0% to 66.4%) to 75.8% (95% CI ¼ 60.7% to 88.4%), with two- to threefold increased risks for PTEN truncating and approximately twofold for phosphatase domain variants. EC risks ranged from 6.4% (95% CI ¼ 2.1% to 18.6%) to 22.1% (95% CI ¼ 11.6% to 39.6%) and TC risks from 8.9% (95% CI ¼ 5.1% to 15.3%) to 20.5% (95% CI ¼ 11.3% to 35.4%). Colorectal cancer, renal cancer, and melanoma risks were each less than 10.0%. Conclusions: Females have a different BC risk depending on their PTEN germline variant. PHTS patients are predominantly at risk of BC (females), EC, and TC. This should be the main focus of surveillance. These lower, more unbiased and personalized risks provide guidance for optimized cancer risk management.

Published
2023

21. Targeted therapy of advanced parathyroid carcinoma guided by genomic and transcriptomic profiling

Author

Teleanu, Maria‐Veronica, primary, Fuss, Carmina T., additional, Paramasivam, Nagarajan, additional, Pirmann, Sebastian, additional, Mock, Andreas, additional, Terkamp, Christoph, additional, Kircher, Stefan, additional, Landwehr, Laura‐Sophie, additional, Lenschow, Christina, additional, Schlegel, Nicolas, additional, Stenzinger, Albrecht, additional, Jahn, Arne, additional, Fassnacht, Martin, additional, Glimm, Hanno, additional, Hübschmann, Daniel, additional, Fröhling, Stefan, additional, and Kroiss, Matthias, additional

Published
2023
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22. Abstract 926: Genomics-based personalized oncology of advanced thymic epithelial tumors

Author

Möhrmann, Lino, primary, Rostock, Lysann, additional, Oleś, Małgorzata, additional, Jahn, Arne, additional, Arlt, Marie, additional, Paramasivam, Nagarajan, additional, Jöhrens, Korinna, additional, Rupp, Luise, additional, Schmitz, Marc, additional, Richter, Daniela, additional, Uhrig, Sebastian, additional, Fröhlich, Martina, additional, Hutter, Barbara, additional, Hüllein, Jennifer, additional, Wolf, Elena E., additional, Hanf, Dorothea, additional, Gieldon, Laura, additional, Kreutzfeldt, Simon, additional, Heilig, Christoph E., additional, Teleanu, Veronica, additional, Lipka, Daniel B., additional, Mock, Andreas, additional, Jelas, Ivan, additional, Rieke, Damian T., additional, Wiesweg, Marcel, additional, Boerries, Melanie, additional, Illert, Anna L., additional, Desuki, Alexander, additional, Kindler, Thomas, additional, Krackhardt, Angela M., additional, Westphalen, C. Benedikt, additional, Grosch, Heidrun, additional, Apostolidis, Leonidas, additional, Stenzinger, Albrecht, additional, Kerle, Irina A., additional, Heining, Christoph, additional, Hübschmann, Daniel, additional, Schröck, Evelin, additional, Fröhling, Stefan, additional, and Glimm, Hanno, additional

Published
2023
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23. Data from Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers

Author

Horak, Peter, primary, Heining, Christoph, primary, Kreutzfeldt, Simon, primary, Hutter, Barbara, primary, Mock, Andreas, primary, Hüllein, Jennifer, primary, Fröhlich, Martina, primary, Uhrig, Sebastian, primary, Jahn, Arne, primary, Rump, Andreas, primary, Gieldon, Laura, primary, Möhrmann, Lino, primary, Hanf, Dorothea, primary, Teleanu, Veronica, primary, Heilig, Christoph E., primary, Lipka, Daniel B., primary, Allgäuer, Michael, primary, Ruhnke, Leo, primary, Laßmann, Andreas, primary, Endris, Volker, primary, Neumann, Olaf, primary, Penzel, Roland, primary, Beck, Katja, primary, Richter, Daniela, primary, Winter, Ulrike, primary, Wolf, Stephan, primary, Pfütze, Katrin, primary, Geörg, Christina, primary, Meißburger, Bettina, primary, Buchhalter, Ivo, primary, Augustin, Marinela, primary, Aulitzky, Walter E., primary, Hohenberger, Peter, primary, Kroiss, Matthias, primary, Schirmacher, Peter, primary, Schlenk, Richard F., primary, Keilholz, Ulrich, primary, Klauschen, Frederick, primary, Folprecht, Gunnar, primary, Bauer, Sebastian, primary, Siveke, Jens Thomas, primary, Brandts, Christian H., primary, Kindler, Thomas, primary, Boerries, Melanie, primary, Illert, Anna L., primary, von Bubnoff, Nikolas, primary, Jost, Philipp J., primary, Spiekermann, Karsten, primary, Bitzer, Michael, primary, Schulze-Osthoff, Klaus, primary, von Kalle, Christof, primary, Klink, Barbara, primary, Brors, Benedikt, primary, Stenzinger, Albrecht, primary, Schröck, Evelin, primary, Hübschmann, Daniel, primary, Weichert, Wilko, primary, Glimm, Hanno, primary, and Fröhling, Stefan, primary

Published
2023
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24. Supplementary Tables S1-S7 from Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers

Author

Horak, Peter, primary, Heining, Christoph, primary, Kreutzfeldt, Simon, primary, Hutter, Barbara, primary, Mock, Andreas, primary, Hüllein, Jennifer, primary, Fröhlich, Martina, primary, Uhrig, Sebastian, primary, Jahn, Arne, primary, Rump, Andreas, primary, Gieldon, Laura, primary, Möhrmann, Lino, primary, Hanf, Dorothea, primary, Teleanu, Veronica, primary, Heilig, Christoph E., primary, Lipka, Daniel B., primary, Allgäuer, Michael, primary, Ruhnke, Leo, primary, Laßmann, Andreas, primary, Endris, Volker, primary, Neumann, Olaf, primary, Penzel, Roland, primary, Beck, Katja, primary, Richter, Daniela, primary, Winter, Ulrike, primary, Wolf, Stephan, primary, Pfütze, Katrin, primary, Geörg, Christina, primary, Meißburger, Bettina, primary, Buchhalter, Ivo, primary, Augustin, Marinela, primary, Aulitzky, Walter E., primary, Hohenberger, Peter, primary, Kroiss, Matthias, primary, Schirmacher, Peter, primary, Schlenk, Richard F., primary, Keilholz, Ulrich, primary, Klauschen, Frederick, primary, Folprecht, Gunnar, primary, Bauer, Sebastian, primary, Siveke, Jens Thomas, primary, Brandts, Christian H., primary, Kindler, Thomas, primary, Boerries, Melanie, primary, Illert, Anna L., primary, von Bubnoff, Nikolas, primary, Jost, Philipp J., primary, Spiekermann, Karsten, primary, Bitzer, Michael, primary, Schulze-Osthoff, Klaus, primary, von Kalle, Christof, primary, Klink, Barbara, primary, Brors, Benedikt, primary, Stenzinger, Albrecht, primary, Schröck, Evelin, primary, Hübschmann, Daniel, primary, Weichert, Wilko, primary, Glimm, Hanno, primary, and Fröhling, Stefan, primary

Published
2023
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25. Supplementary Figures S1-S10 from Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers

Author

Horak, Peter, primary, Heining, Christoph, primary, Kreutzfeldt, Simon, primary, Hutter, Barbara, primary, Mock, Andreas, primary, Hüllein, Jennifer, primary, Fröhlich, Martina, primary, Uhrig, Sebastian, primary, Jahn, Arne, primary, Rump, Andreas, primary, Gieldon, Laura, primary, Möhrmann, Lino, primary, Hanf, Dorothea, primary, Teleanu, Veronica, primary, Heilig, Christoph E., primary, Lipka, Daniel B., primary, Allgäuer, Michael, primary, Ruhnke, Leo, primary, Laßmann, Andreas, primary, Endris, Volker, primary, Neumann, Olaf, primary, Penzel, Roland, primary, Beck, Katja, primary, Richter, Daniela, primary, Winter, Ulrike, primary, Wolf, Stephan, primary, Pfütze, Katrin, primary, Geörg, Christina, primary, Meißburger, Bettina, primary, Buchhalter, Ivo, primary, Augustin, Marinela, primary, Aulitzky, Walter E., primary, Hohenberger, Peter, primary, Kroiss, Matthias, primary, Schirmacher, Peter, primary, Schlenk, Richard F., primary, Keilholz, Ulrich, primary, Klauschen, Frederick, primary, Folprecht, Gunnar, primary, Bauer, Sebastian, primary, Siveke, Jens Thomas, primary, Brandts, Christian H., primary, Kindler, Thomas, primary, Boerries, Melanie, primary, Illert, Anna L., primary, von Bubnoff, Nikolas, primary, Jost, Philipp J., primary, Spiekermann, Karsten, primary, Bitzer, Michael, primary, Schulze-Osthoff, Klaus, primary, von Kalle, Christof, primary, Klink, Barbara, primary, Brors, Benedikt, primary, Stenzinger, Albrecht, primary, Schröck, Evelin, primary, Hübschmann, Daniel, primary, Weichert, Wilko, primary, Glimm, Hanno, primary, and Fröhling, Stefan, primary

Published
2023
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26. Supplementary Methods from Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers

Author

Horak, Peter, primary, Heining, Christoph, primary, Kreutzfeldt, Simon, primary, Hutter, Barbara, primary, Mock, Andreas, primary, Hüllein, Jennifer, primary, Fröhlich, Martina, primary, Uhrig, Sebastian, primary, Jahn, Arne, primary, Rump, Andreas, primary, Gieldon, Laura, primary, Möhrmann, Lino, primary, Hanf, Dorothea, primary, Teleanu, Veronica, primary, Heilig, Christoph E., primary, Lipka, Daniel B., primary, Allgäuer, Michael, primary, Ruhnke, Leo, primary, Laßmann, Andreas, primary, Endris, Volker, primary, Neumann, Olaf, primary, Penzel, Roland, primary, Beck, Katja, primary, Richter, Daniela, primary, Winter, Ulrike, primary, Wolf, Stephan, primary, Pfütze, Katrin, primary, Geörg, Christina, primary, Meißburger, Bettina, primary, Buchhalter, Ivo, primary, Augustin, Marinela, primary, Aulitzky, Walter E., primary, Hohenberger, Peter, primary, Kroiss, Matthias, primary, Schirmacher, Peter, primary, Schlenk, Richard F., primary, Keilholz, Ulrich, primary, Klauschen, Frederick, primary, Folprecht, Gunnar, primary, Bauer, Sebastian, primary, Siveke, Jens Thomas, primary, Brandts, Christian H., primary, Kindler, Thomas, primary, Boerries, Melanie, primary, Illert, Anna L., primary, von Bubnoff, Nikolas, primary, Jost, Philipp J., primary, Spiekermann, Karsten, primary, Bitzer, Michael, primary, Schulze-Osthoff, Klaus, primary, von Kalle, Christof, primary, Klink, Barbara, primary, Brors, Benedikt, primary, Stenzinger, Albrecht, primary, Schröck, Evelin, primary, Hübschmann, Daniel, primary, Weichert, Wilko, primary, Glimm, Hanno, primary, and Fröhling, Stefan, primary

Published
2023
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28. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Author

Hendricks, Linda A.J., primary, Hoogerbrugge, Nicoline, additional, Venselaar, Hanka, additional, Aretz, Stefan, additional, Spier, Isabel, additional, Legius, Eric, additional, Brems, Hilde, additional, de Putter, Robin, additional, Claes, Kathleen B.M., additional, Evans, D. Gareth, additional, Woodward, Emma R., additional, Genuardi, Maurizio, additional, Brugnoletti, Fulvia, additional, van Ierland, Yvette, additional, Dijke, Kim, additional, Tham, Emma, additional, Tesi, Bianca, additional, Schuurs-Hoeijmakers, Janneke H.M., additional, Branchaud, Maud, additional, Salvador, Hector, additional, Jahn, Arne, additional, Schnaiter, Simon, additional, Anastasiadou, Violetta Christophidou, additional, Brunet, Joan, additional, Oliveira, Carla, additional, Roht, Laura, additional, Blatnik, Ana, additional, Irmejs, Arvids, additional, Mensenkamp, Arjen R., additional, Vos, Janet R., additional, Duijkers, Floor, additional, Giltay, Jacques C., additional, van Hest, Liselotte P., additional, Kleefstra, Tjitske, additional, Leter, Edward M., additional, Nielsen, Maartje, additional, Nijmeijer, Sebastiaan W.R., additional, and Olderode-Berends, Maran J.W., additional

Published
2022
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29. Cancer risks by sex and variant type in PTEN Hamartoma Tumor Syndrome

Author

Hendricks, Linda A J, Hoogerbrugge, Nicoline, Mensenkamp, Arjen R, Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Haavind, Marianne Tveit, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P, Olderode-Berends, Maran J W, Blatnik, Ana, Leter, Edward M, Evans, D Gareth, Woodward, Emma R, Steinke-Lange, Verena, Anastasiadou, Violetta C, Colas, Chrystelle, Villy, Marie-Charlotte, Benusiglio, Patrick R, Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M Omer, van der Post, Rachel S, Schuurs-Hoeijmakers, Janneke H M, Vos, Janet R, MUMC+: DA KG Polikliniek (9), RS: FHML non-thematic output, Human genetics, CCA - Cancer biology and immunology, and Cancer Center Amsterdam

Subjects
Tumours of the digestive tract Radboud Institute for Health Sciences [Radboudumc 14], Cancer Research, All institutes and research themes of the Radboud University Medical Center, Women's cancers Radboud Institute for Molecular Life Sciences [Radboudumc 17], Neurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7], SDG 3 - Good Health and Well-being, Oncology, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14]
Abstract

Background PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current risks are likely overestimated due to ascertainment bias. We aimed to provide more accurate and personalized cancer risks. Methods This was a European, adult PHTS cohort study with data from medical files, registries, and/or questionnaires. Cancer risks and hazard ratios were assessed with Kaplan-Meier and Cox regression analyses, and standardized incidence ratios were calculated. Bias correction consisted of excluding cancer index cases and incident case analyses. Results A total of 455 patients were included, including 50.5% index cases, 372 with prospective follow-up (median 6 years, interquartile range = 3-10 years), and 159 of 281 females and 39 of 174 males with cancer. By age 60 years, PHTS-related cancer risk was higher in females (68.4% to 86.3%) than males (16.4% to 20.8%). Female BC risks ranged from 54.3% (95% confidence interval [CI] = 43.0% to 66.4%) to 75.8% (95% CI = 60.7% to 88.4%), with two- to threefold increased risks for PTEN truncating and approximately twofold for phosphatase domain variants. EC risks ranged from 6.4% (95% CI = 2.1% to 18.6%) to 22.1% (95% CI = 11.6% to 39.6%) and TC risks from 8.9% (95% CI = 5.1% to 15.3%) to 20.5% (95% CI = 11.3% to 35.4%). Colorectal cancer, renal cancer, and melanoma risks were each less than 10.0%. Conclusions Females have a different BC risk depending on their PTEN germline variant. PHTS patients are predominantly at risk of BC (females), EC, and TC. This should be the main focus of surveillance. These lower, more unbiased and personalized risks provide guidance for optimized cancer risk management.

Published
2022
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30. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome

Author

Hendricks, Linda AJ, Hoogerbrugge, Nicoline, Mensenkamp, Arjen R, Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Tveit Haavind, Marianne, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P, Olderode-Berends, Maran JW, Blatnik, Ana, Leter, Edward M, Evans, D Gareth, Woodward, Emma R, Steinke-Lange, Verena, Anastasiadou, Violetta C, Colas, Chrystelle, Villy, Marie-Charlotte, Benusiglio, Patrick R, Gerasimenko, Anna, Barili, Valeria, Branchaud, Maud, Houdayer, Claude, Tesi, Bianca, Yazicioglu, M Omer, Van Der Post, Rachel S, Schuurs-Hoeijmakers, Janneke HM, PTEN Study Group, Vos, Janet R, Hendricks, Linda AJ [0000-0002-1008-0265], Hoogerbrugge, Nicoline [0000-0003-2393-8141], Mensenkamp, Arjen R [0000-0003-3805-877X], Brunet, Joan [0000-0003-1945-3512], Tischkowitz, Marc [0000-0002-7880-0628], Links, Thera P [0000-0001-5327-1718], Vos, Janet R [0000-0001-8802-7002], and Apollo - University of Cambridge Repository

Subjects
Adult, Male, Cohort Studies, PTEN Phosphohydrolase, Humans, Female, Prospective Studies, Thyroid Neoplasms, Middle Aged, Hamartoma Syndrome, Multiple, Kidney Neoplasms, Germ-Line Mutation
Abstract

BACKGROUND: PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current risks are likely overestimated due to ascertainment bias. We aimed to provide more accurate and personalized cancer risks. METHODS: This was a European, adult PHTS cohort study with data from medical files, registries, and/or questionnaires. Cancer risks and hazard ratios were assessed with Kaplan-Meier and Cox regression analyses, and standardized incidence ratios were calculated. Bias correction consisted of excluding cancer index cases and incident case analyses. RESULTS: A total of 455 patients were included, including 50.5% index cases, 372 with prospective follow-up (median 6 years, interquartile range = 3-10 years), and 159 of 281 females and 39 of 174 males with cancer. By age 60 years, PHTS-related cancer risk was higher in females (68.4% to 86.3%) than males (16.4% to 20.8%). Female BC risks ranged from 54.3% (95% confidence interval [CI] = 43.0% to 66.4%) to 75.8% (95% CI = 60.7% to 88.4%), with two- to threefold increased risks for PTEN truncating and approximately twofold for phosphatase domain variants. EC risks ranged from 6.4% (95% CI = 2.1% to 18.6%) to 22.1% (95% CI = 11.6% to 39.6%) and TC risks from 8.9% (95% CI = 5.1% to 15.3%) to 20.5% (95% CI = 11.3% to 35.4%). Colorectal cancer, renal cancer, and melanoma risks were each less than 10.0%. CONCLUSIONS: Females have a different BC risk depending on their PTEN germline variant. PHTS patients are predominantly at risk of BC (females), EC, and TC. This should be the main focus of surveillance. These lower, more unbiased and personalized risks provide guidance for optimized cancer risk management.

Published
2022
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31. Clinical criteria for genetic testing in pediatric oncology show a low specificity and miss every 4thchild carrying a cancer predisposition

Author

Friedrich, Ulrike Anne, primary, Bienias, Marc, additional, Zinke, Claudia, additional, Prazenicova, Maria, additional, Lohse, Judith, additional, Jahn, Arne, additional, Menzel, Maria, additional, Langanke, Jonas, additional, Walter, Carolin, additional, Wagener, Rabea, additional, Brozou, Triantafyllia, additional, Varghese, Julian, additional, Dugas, Martin, additional, Schröck, Evelin, additional, Suttorp, Meinolf, additional, Borkhardt, Arndt, additional, Hauer, Julia, additional, and Auer, Franziska, additional

Published
2022
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32. Genotype-phenotype associations in a large PTEN Hamartoma Tumor Syndrome (PHTS) patient cohort

Author

Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Venselaar, Hanka, Aretz, Stefan, Spier, Isabel, Legius, Eric, Brems, Hilde, de Putter, Robin, Claes, Kathleen B.M., Evans, D. Gareth, Woodward, Emma R., Genuardi, Maurizio, Brugnoletti, Fulvia, van Ierland, Yvette, Dijke, Kim, Tham, Emma, Tesi, Bianca, Schuurs-Hoeijmakers, Janneke H.M., Branchaud, Maud, Salvador, Hector, Jahn, Arne, Schnaiter, Simon, Anastasiadou, Violetta Christophidou, Brunet, Joan, Oliveira, Carla, Roht, Laura, Blatnik, Ana, Irmejs, Arvids, Mensenkamp, Arjen R., Vos, Janet R., Hendricks, Linda A.J., Hoogerbrugge, Nicoline, Venselaar, Hanka, Aretz, Stefan, Spier, Isabel, Legius, Eric, Brems, Hilde, de Putter, Robin, Claes, Kathleen B.M., Evans, D. Gareth, Woodward, Emma R., Genuardi, Maurizio, Brugnoletti, Fulvia, van Ierland, Yvette, Dijke, Kim, Tham, Emma, Tesi, Bianca, Schuurs-Hoeijmakers, Janneke H.M., Branchaud, Maud, Salvador, Hector, Jahn, Arne, Schnaiter, Simon, Anastasiadou, Violetta Christophidou, Brunet, Joan, Oliveira, Carla, Roht, Laura, Blatnik, Ana, Irmejs, Arvids, Mensenkamp, Arjen R., and Vos, Janet R.

Abstract

Background: Pathogenic PTEN germline variants cause PTEN Hamartoma Tumor Syndrome (PHTS), a rare disease with a variable genotype and phenotype. Knowledge about these spectra and genotype-phenotype associations could help diagnostics and potentially lead to personalized care. Therefore, we assessed the PHTS genotype and phenotype spectrum in a large cohort study. Methods: Information was collected of 510 index patients with pathogenic or likely pathogenic (LP/P) PTEN variants (n = 467) or variants of uncertain significance. Genotype-phenotype associations were assessed using logistic regression analyses adjusted for sex and age. Results: At time of genetic testing, the majority of children (n = 229) had macrocephaly (81%) or developmental delay (DD, 61%), and about half of the adults (n = 238) had cancer (51%), macrocephaly (61%), or cutaneous pathology (49%). Across PTEN, 268 LP/P variants were identified, with exon 5 as hotspot. Missense variants (n = 161) were mainly located in the phosphatase domain (PD, 90%) and truncating variants (n = 306) across all domains. A trend towards 2 times more often truncating variants was observed in adults (OR = 2.3, 95%CI = 1.5–3.4) and patients with cutaneous pathology (OR = 1.6, 95%CI = 1.1–2.5) or benign thyroid pathology (OR = 2.0, 95%CI = 1.1–3.5), with trends up to 2–4 times more variants in PD. Whereas patients with DD (OR = 0.5, 95%CI = 0.3–0.9) or macrocephaly (OR = 0.6, 95%CI = 0.4–0.9) had about 2 times less often truncating variants compared to missense variants. In DD patients these missense variants were often located in domain C2. Conclusion: The PHTS phenotypic diversity may partly be explained by the PTEN variant coding effect and the combination of coding effect and domain. PHTS patients with early-onset disease often had missense variants, and those with later-onset disease often truncating variants.

Published
2022

34. Cancer risks by sex and variant type in PTEN hamartoma tumor syndrome.

Author

Hendricks, Linda A J, Hoogerbrugge, Nicoline, Mensenkamp, Arjen R, Brunet, Joan, Lleuger-Pujol, Roser, Høberg-Vetti, Hildegunn, Haavind, Marianne Tveit, Innella, Giovanni, Turchetti, Daniela, Aretz, Stefan, Spier, Isabel, Tischkowitz, Marc, Jahn, Arne, Links, Thera P, Olderode-Berends, Maran J W, Blatnik, Ana, Leter, Edward M, Evans, D Gareth, Woodward, Emma R, and Steinke-Lange, Verena

Subjects
DISEASE risk factors, THYROID cancer, HAMARTOMA, RENAL cancer, SYNDROMES, COLORECTAL cancer
Abstract

Background PTEN Hamartoma Tumor Syndrome (PHTS) is a rare syndrome with a broad phenotypic spectrum, including increased risks of breast (BC, 67%-78% at age 60 years), endometrial (EC, 19%-28%), and thyroid cancer (TC, 6%-38%). Current risks are likely overestimated due to ascertainment bias. We aimed to provide more accurate and personalized cancer risks. Methods This was a European, adult PHTS cohort study with data from medical files, registries, and/or questionnaires. Cancer risks and hazard ratios were assessed with Kaplan-Meier and Cox regression analyses, and standardized incidence ratios were calculated. Bias correction consisted of excluding cancer index cases and incident case analyses. Results A total of 455 patients were included, including 50.5% index cases, 372 with prospective follow-up (median 6 years, interquartile range = 3-10 years), and 159 of 281 females and 39 of 174 males with cancer. By age 60 years, PHTS-related cancer risk was higher in females (68.4% to 86.3%) than males (16.4% to 20.8%). Female BC risks ranged from 54.3% (95% confidence interval [CI] = 43.0% to 66.4%) to 75.8% (95% CI = 60.7% to 88.4%), with two- to threefold increased risks for PTEN truncating and approximately twofold for phosphatase domain variants. EC risks ranged from 6.4% (95% CI = 2.1% to 18.6%) to 22.1% (95% CI = 11.6% to 39.6%) and TC risks from 8.9% (95% CI = 5.1% to 15.3%) to 20.5% (95% CI = 11.3% to 35.4%). Colorectal cancer, renal cancer, and melanoma risks were each less than 10.0%. Conclusions Females have a different BC risk depending on their PTEN germline variant. PHTS patients are predominantly at risk of BC (females), EC, and TC. This should be the main focus of surveillance. These lower, more unbiased and personalized risks provide guidance for optimized cancer risk management. [ABSTRACT FROM AUTHOR]

Published
2023
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35. Response to Cabozantinib Following Acquired Entrectinib Resistance in a Patient WithETV6-NTRK3Fusion-Positive Carcinoma Harboring theNTRK3G623RSolvent-Front Mutation

Author

Hanf, Dorothea, primary, Heining, Christoph, additional, Laaber, Karin, additional, Nebelung, Heiner, additional, Uhrig, Sebastian, additional, Hutter, Barbara, additional, Jahn, Arne, additional, Richter, Daniela, additional, Aust, Daniela, additional, Herbst, Friederike, additional, Fröhling, Stefan, additional, Glimm, Hanno, additional, and Folprecht, Gunnar, additional

Published
2021
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37. Frequency of the necessity of dentoalveolar surgery or conservative treatment in patients before kidney transplantation depending on the duration of dialysis and causative nephrological disease

Author

Moest, Tobias, primary, Lutz, Rainer, additional, Jahn, Arne Eric, additional, Heller, Katharina, additional, Schiffer, Mario, additional, Adler, Werner, additional, Deschner, James, additional, Weber, Manuel, additional, and Kesting, Marco Rainer, additional

Published
2021
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39. Comprehensive Genomic and Transcriptomic Analysis for Guiding Therapeutic Decisions in Patients with Rare Cancers

Author

Horak, Peter, primary, Heining, Christoph, additional, Kreutzfeldt, Simon, additional, Hutter, Barbara, additional, Mock, Andreas, additional, Hüllein, Jennifer, additional, Fröhlich, Martina, additional, Uhrig, Sebastian, additional, Jahn, Arne, additional, Rump, Andreas, additional, Gieldon, Laura, additional, Möhrmann, Lino, additional, Hanf, Dorothea, additional, Teleanu, Veronica, additional, Heilig, Christoph E., additional, Lipka, Daniel B., additional, Allgäuer, Michael, additional, Ruhnke, Leo, additional, Laßmann, Andreas, additional, Endris, Volker, additional, Neumann, Olaf, additional, Penzel, Roland, additional, Beck, Katja, additional, Richter, Daniela, additional, Winter, Ulrike, additional, Wolf, Stephan, additional, Pfütze, Katrin, additional, Geörg, Christina, additional, Meißburger, Bettina, additional, Buchhalter, Ivo, additional, Augustin, Marinela, additional, Aulitzky, Walter E., additional, Hohenberger, Peter, additional, Kroiss, Matthias, additional, Schirmacher, Peter, additional, Schlenk, Richard F., additional, Keilholz, Ulrich, additional, Klauschen, Frederick, additional, Folprecht, Gunnar, additional, Bauer, Sebastian, additional, Siveke, Jens Thomas, additional, Brandts, Christian H., additional, Kindler, Thomas, additional, Boerries, Melanie, additional, Illert, Anna L., additional, von Bubnoff, Nikolas, additional, Jost, Philipp J., additional, Spiekermann, Karsten, additional, Bitzer, Michael, additional, Schulze-Osthoff, Klaus, additional, von Kalle, Christof, additional, Klink, Barbara, additional, Brors, Benedikt, additional, Stenzinger, Albrecht, additional, Schröck, Evelin, additional, Hübschmann, Daniel, additional, Weichert, Wilko, additional, Glimm, Hanno, additional, and Fröhling, Stefan, additional

Published
2021
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41. Correction: Diagnostic value of partial exome sequencing in developmental disorders

Author

Gieldon, Laura, primary, Mackenroth, Luisa, additional, Kahlert, Anne-Karin, additional, Lemke, Johannes R., additional, Porrmann, Joseph, additional, Schallner, Jens, additional, von der Hagen, Maja, additional, Markus, Susanne, additional, Weidensee, Sabine, additional, Novotna, Barbara, additional, Soerensen, Charlotte, additional, Klink, Barbara, additional, Wagner, Johannes, additional, Tzschach, Andreas, additional, Jahn, Arne, additional, Kuhlee, Franziska, additional, Hackmann, Karl, additional, Schrock, Evelin, additional, Di Donato, Nataliya, additional, and Rump, Andreas, additional

Published
2020
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42. Abstract 820: Genomics based personalized oncology of cancer of unknown primary

Author

Werner, Maximilian, primary, Möhrmann, Lino, additional, Oleś, Małgorzata, additional, Mock, Andreas, additional, Jahn, Arne, additional, Kreutzfeldt, Simon, additional, Uhrig, Sebastian, additional, Fröhlich, Martina, additional, Hutter, Barbara, additional, Richter, Daniela, additional, Rüter, Gina, additional, Jelas, Ivan, additional, Hamacher, Rainer, additional, Falkenhorst, Johanna, additional, Wagner, Sebastian, additional, Brandts, Christian, additional, Börries, Melanie, additional, Illert, Anna, additional, Metzeler, Klaus, additional, Westphalen, Benedikt, additional, Desuki, Alexander, additional, Kindler, Thomas, additional, Stenzinger, Albrecht, additional, Schröck, Evelin, additional, Brors, Benedikt, additional, Horak, Peter, additional, Heining, Christoph, additional, Fröhling, Stefan, additional, and Glimm, Hanno, additional

Published
2020
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43. Recommendation and Acceptance of Counselling for Familial Cancer Risk in Newly Diagnosed Breast Cancer Cases.

Author

Kast, Karin, Häfner, Julia, Schröck, Evelin, Jahn, Arne, Werner, Carmen, Meisel, Cornelia, and Wimberger, Pauline

Subjects
BREAST tumor diagnosis, BREAST tumor risk factors, ADJUVANT chemotherapy, ACADEMIC medical centers, CANCER chemotherapy, RISK assessment, GENETIC counseling, BREAST tumors, FAMILY history (Medicine)
Abstract

Background: In clinical routine, not every patient who is offered genetic counselling and diagnostics in order to investigate a familial cancer risk predisposition opts for it. Little is known about acceptance of counselling and testing in newly diagnosed breast cancer cases in Germany. Methods: All primary breast cancer cases and patients with DCIS (ductal carcinoma in situ) treated at the University Hospital of Dresden between 2016 and 2019 were included. The number of tumor board recommendations for genetic counselling on the basis of the GC-HBOC risk criteria was recorded. Acceptance was analyzed by number of cases with counselling in the GC-HBOC-Center Dresden. Results: Of 996 primary breast cancer and DCIS cases, 262 (26.3%) were eligible for genetic counselling. Recommendation for genetic counselling was accepted by 64.1% (168/262). Of these 90.5% (152/168) opted for molecular genetic analysis. The acceptance rate for counselling increased between 2016 and 2019 from 58.3 to 72.6%. Altogether, 20.4% (31/152) patients were found to carry a pathogenic variant in the breast cancer genes BRCA1 or BRCA2. Conclusion: Acceptance of recommendation is increasing as clinical consequences augment. Optimization in providing information about hereditary cancer risk and in accessibility of counselling and testing is required to further improve acceptance of recommendation. [ABSTRACT FROM AUTHOR]

Published
2022
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44. Optimizing Genetic Workup in Pheochromocytoma and Paraganglioma by Integrating Diagnostic and Research Approaches

Author

Gieldon, Laura, William, Doreen, Hackmann, Karl, Jahn, Winnie, Jahn, Arne, Wagner, Johannes, Rump, Andreas, Bechmann, Nicole, Nölting, Svenja, Knösel, Thomas, Gudziol, Volker, Constantinescu, Georgiana, Masjkur, Jimmy, Beuschlein, Felix, Timmers, Henri J L M, Canu, Letizia, Pacak, Karel, Robledo, Mercedes, Aust, Daniela, Schröck, Evelin, Eisenhofer, Graeme, Richter, Susan, Klink, Barbara, Deutsche Forschungsgemeinschaft (Alemania), Instituto de Salud Carlos III, Unión Europea. Fondo Europeo de Desarrollo Regional (FEDER/ERDF), University of Zurich, and Klink, Barbara

Subjects
10265 Clinic for Endocrinology and Diabetology, Vascular damage Radboud Institute for Molecular Life Sciences [Radboudumc 16], 610 Medicine & health, Pheochromocytoma, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Sporadic, pheochromocytoma, lcsh:RC254-282, Article, Paraganglioma, paraganglioma, Hereditary, CNV detection, sporadic, Next-generation sequencing, next-generation sequencing, 2730 Oncology, 1306 Cancer Research, hereditary
Abstract

Pheochromocytomas and paragangliomas (PPGL) are rare neuroendocrine tumors with a strong hereditary background and a large genetic heterogeneity. Identification of the underlying genetic cause is crucial for the management of patients and their families as it aids differentiation between hereditary and sporadic cases. To improve diagnostics and clinical management we tailored an enrichment based comprehensive multi-gene next generation sequencing panel applicable to both analyses of tumor tissue and blood samples. We applied this panel to tumor samples and compared its performance to our current routine diagnostic approach. Routine diagnostic sequencing of 11 PPGL susceptibility genes was applied to blood samples of 65 unselected PPGL patients at a single center in Dresden, Germany. Predisposing germline mutations were identified in 19 (29.2%) patients. Analyses of 28 PPGL tumor tissues using the dedicated PPGL panel revealed pathogenic or likely pathogenic variants in known PPGL susceptibility genes in 21 (75%) cases, including mutations in IDH2, ATRX and HRAS. These mutations suggest sporadic tumor development. Our results imply a diagnostic benefit from extended molecular tumor testing of PPGLs and consequent improvement of patient management. The approach is promising for determination of prognostic biomarkers that support therapeutic decision-making. Acknowledgments: We thank the patients and their families who have made this research possible. We want to thank JacquesW. Lenders for his support. We further thank Alexander Krüger, Lydia Rossow and Franziska Stübner for technical support as well as Katharina Langton and Uwe Siemon for their assistance in patient administration. Sí

Published
2019

45. Diagnostic value of partial exome sequencing in developmental disorders

Author

Gieldon, Laura, Mackenroth, Luisa, Kahlert, Anne-Karin, Lemke, Johannes R., Porrmann, Joseph, Schallner, Jens, von der Hagen, Maja, Markus, Susanne, Weidensee, Sabine, Novotna, Barbara, Soerensen, Charlotte, Klink, Barbara, Wagner, Johannes, Tzschach, Andreas, Jahn, Arne, Kuhlee, Franziska, Hackmann, Karl, Schrock, Evelin, Di Donato, Nataliya, and Rump, Andreas

Subjects
Male, Molecular biology, Imaging Techniques, Developmental Disabilities, DNA Mutational Analysis, Gene Identification and Analysis, lcsh:Medicine, Gene Sequencing, Genes, Recessive, Nervous System Malformations, Research and Analysis Methods, Diagnostic Radiology, Cohort Studies, Sequencing techniques, Autosomal Recessive Diseases, Pregnancy, Diagnostic Medicine, Intellectual Disability, Exome Sequencing, Medicine and Health Sciences, Genetics, Humans, Abnormalities, Multiple, Exome, DNA sequencing, lcsh:Science, Child, Mutation Detection, Clinical Genetics, Biology and life sciences, Radiology and Imaging, lcsh:R, Genetic Variation, Human Genetics, Sequence Analysis, DNA, Syndrome, Magnetic Resonance Imaging, Phenotype, Molecular biology techniques, Genetic Diseases, Face, Mutation, lcsh:Q, Female, Anatomy, Head, Research Article
Abstract

Although intellectual disability is one of the major indications for genetic counselling, there are no homogenous diagnostic algorithms for molecular testing. While whole exome sequencing is increasingly applied, we questioned whether analyzing a partial exome, enriched for genes associated with Mendelian disorders, might be a valid alternative approach that yields similar detection rates but requires less sequencing capacities. Within this context 106 patients with different intellectual disability forms were analyzed for mutations in 4.813 genes after pre-exclusion of copy number variations by array-CGH. Subsequent variant interpretation was performed in accordance with the ACMG guidelines. By this, a molecular diagnosis was established in 34% of cases and candidate mutations were identified in additional 24% of patients. Detection rates of causative mutations were above 30%, regardless of further symptoms, except for patients with seizures (23%). We did not detect an advantage from partial exome sequencing for patients with severe intellectual disability (36%) as compared to those with mild intellectual disability (44%). Specific clinical diagnoses pre-existed for 20 patients. Of these, 5 could be confirmed and an additional 6 cases could be solved, but showed mutations in other genes than initially suspected. In conclusion partial exome sequencing solved >30% of intellectual disability cases, which is similar to published rates obtained by whole exome sequencing. The approach therefore proved to be a valid alternative to whole exome sequencing for molecular diagnostics in this cohort. The method proved equally suitable for both syndromic and non-syndromic intellectual disability forms of all severity grades.

Published
2018

46. Response to Cabozantinib Following Acquired Entrectinib Resistance in a Patient With ETV6-NTRK3 Fusion-Positive Carcinoma Harboring the NTRK3 G623R Solvent-Front Mutation.

Author

Hanf, Dorothea, Heining, Christoph, Laaber, Karin, Nebelung, Heiner, Uhrig, Sebastian, Hutter, Barbara, Jahn, Arne, Richter, Daniela, Aust, Daniela, Herbst, Friederike, Fröhling, Stefan, Glimm, Hanno, and Folprecht, Gunnar

Subjects
THYROIDITIS, MAGNETIC resonance imaging, PHYSICIANS, ANAPLASTIC lymphoma kinase
Abstract

Recently, neurotrophic tyrosine receptor kinase (NTRK) inhibitors have been highlighted as the first small molecule inhibitors to receive tissue-agnostic US Food and Drug Administration approval. Serial computed tomography (CT) imaging of the same lesions vertically ordered before cabozantinib and after 4 months of cabozantinib treatment shows a pulmonary metastasis in the right lower lobe (A) before cabozantinib (February 2019) that (B) decreased in size during therapy (June 2019). The cervical metastasis was irradiated and additional foci appeared in December 2018 and February 2019, which included pectoral and gluteal soft tissue metastases, a hepatic lesion, and tumor manifestations affecting the right adrenal gland and hepatoduodenal ligament. [Extracted from the article]

Published
2021
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47. Novel VPS33B mutation in a patient with autosomal recessive keratoderma-ichthyosis-deafness syndrome

Author

Alter, Svenja, primary, Hotz, Alrun, additional, Jahn, Arne, additional, Di Donato, Nataliya, additional, Schröck, Evelin, additional, Smitka, Martin, additional, von der Hagen, Maja, additional, Schallner, Jens, additional, Menschikowski, Mario, additional, Gillitzer, Claus, additional, Laass, Martin W., additional, Fischer, Judith, additional, and Tzschach, Andreas, additional

Published
2018
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48. Abstract 1468: ZBTB48 is both a vertebrate telomere-binding protein and a transcriptional activator

Author

Jahn, Arne, primary, Rane, Grishma, additional, Paszkowski-Rogacz, Maciej, additional, Sayols, Sergi, additional, Bluhm, Alina, additional, Han, Chung-Ting, additional, Draškovič, Irena, additional, Londoño, Arturo, additional, Kumar, Alan Prem, additional, Buchholz, Frank, additional, Butter, Falk, additional, and Kappei, Dennis, additional

Published
2018
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49. Abstract 1410: Pedigree analysis equally identifies cases of pancreatic cancer in families with BRCA1 and BRCA2 mutations

Author

Schrock, Evelin, primary, Hackmann, Karl, additional, Kuhlee, Franziska, additional, Jahn, Arne, additional, Wagner, Johannes, additional, Kahlert, Anne-Karin, additional, Porrmann, Joseph, additional, Tzschach, Andreas, additional, Aust, Daniela, additional, Baretton, Gustavo, additional, Kast, Karin, additional, Wimberger, Pauline, additional, Laniado, Michael, additional, Kahlert, Christoph, additional, Welsch, Thilo, additional, Weitz, Jürgen, additional, Klink, Barbara, additional, Rump, Andreas, additional, and Gieldon, Laura, additional

Published
2018
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50. Biallelic UBE4Aloss-of-function variants cause intellectual disability and global developmental delay

Author

Melo, Uirá Souto, Bonner, Devon, Kent Lloyd, Kevin C., Moshiri, Ala, Willis, Brandon, Lanoue, Louise, Bower, Lynette, Leonard, Brian C., Martins, Davi Jardim, Gomes, Fernando, de Souza Leite, Felipe, Oliveira, Danyllo, Kitajima, João Paulo, Monteiro, Fabiola P., Zatz, Mayana, Menck, Carlos Frederico Martins, Wheeler, Matthew T., Bernstein, Jonathan A., Dumas, Kevin, Spiteri, Elizabeth, Di Donato, Nataliya, Jahn, Arne, Hashem, Mais, Alsaif, Hessa S., Chedrawi, Aziza, Alkuraya, Fowzan S., Kok, Fernando, and Byers, Heather M.

Abstract

To identify novel genes associated with intellectual disability (ID) in four unrelated families.

Published
2021
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