Performance of in silico prediction tools for the classification of rare BRCA1/2 missense variants in clinical diagnostics

por Ernst, Corinna, Hahnen, Eric, Engel, Christoph, Nothnagel, Michael, Weber, Jonas, Schmutzler, Rita K., Hauke, Jan
Publicado 2018

Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition

por Hauke, Jan, Riessland, Markus, Lunke, Sebastian, Eyüpoglu, Ilker Y., Blümcke, Ingmar, El-Osta, Assam, Wirth, Brunhilde, Hahnen, Eric
Publicado 2009

Relationship of Postoperative Pain and PONV after Minimally Invasive Surgery with the Serotonin Concentrations and Receptors’ Gene Polymorphisms

por Ignaszak-Kaus, Natalia, Duleba, Antoni J., Mrozikiewicz, Aleksandra, Kurzawińska, Grażyna, Różycka, Agata, Hauke, Jan, Gaca, Michał, Pawelczyk, Leszek, Jagodziński, Paweł Piotr, Jędrzejczak, Piotr
Publicado 2021

Analysis of 30 Putative BRCA1 Splicing Mutations in Hereditary Breast and Ovarian Cancer Families Identifies Exonic Splice Site Mutations That Escape In Silico Prediction

por Wappenschmidt, Barbara, Becker, Alexandra A., Hauke, Jan, Weber, Ute, Engert, Stefanie, Köhler, Juliane, Kast, Karin, Arnold, Norbert, Rhiem, Kerstin, Hahnen, Eric, Meindl, Alfons, Schmutzler, Rita K.
Publicado 2012

Criteria of the German Consortium for Hereditary Breast and Ovarian Cancer for the Classification of Germline Sequence Variants in Risk Genes for Hereditary Breast and Ovarian Canc...

por Wappenschmidt, Barbara, Hauke, Jan, Faust, Ulrike, Niederacher, Dieter, Wiesmüller, Lisa, Schmidt, Gunnar, Groß, Evi, Gehrig, Andrea, Sutter, Christian, Ramser, Juliane, Rump, Andreas, Arnold, Norbert, Meindl, Alfons
Publicado 2020

Deep sequencing reveals increased DNA methylation in chronic rat epilepsy

por Kobow, Katja, Kaspi, Antony, Harikrishnan, K. N., Kiese, Katharina, Ziemann, Mark, Khurana, Ishant, Fritzsche, Ina, Hauke, Jan, Hahnen, Eric, Coras, Roland, Mühlebner, Angelika, El-Osta, Assam, Blümcke, Ingmar
Publicado 2013

RAD51C deletion screening identifies a recurrent gross deletion in breast cancer and ovarian cancer families

por Schnurbein, Gioia, Hauke, Jan, Wappenschmidt, Barbara, Weber-Lassalle, Nana, Engert, Stefanie, Hellebrand, Heide, Garbes, Lutz, Becker, Alexandra, Neidhardt, Guido, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K, Hahnen, Eric
Publicado 2013

Performance of In Silico Prediction Tools for the Detection of Germline Copy Number Variations in Cancer Predisposition Genes in 4208 Female Index Patients with Familial Breast and...

por Lepkes, Louisa, Kayali, Mohamad, Blümcke, Britta, Weber, Jonas, Suszynska, Malwina, Schmidt, Sandra, Borde, Julika, Klonowska, Katarzyna, Wappenschmidt, Barbara, Hauke, Jan, Kozlowski, Piotr, Schmutzler, Rita K., Hahnen, Eric, Ernst, Corinna
Publicado 2021

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

por Hauke, Jan, Schild, Andrea, Neugebauer, Antje, Lappa, Alexandra, Fricke, Julia, Fauser, Sascha, Rösler, Stefanie, Pannes, Andrea, Zarrinnam, Dirk, Altmüller, Janine, Motameny, Susanne, Nürnberg, Gudrun, Nürnberg, Peter, Hahnen, Eric, Beck, Bodo B.
Publicado 2013

Pathogenic germline variants in SMARCA4 and further cancer predisposition genes in early onset ovarian cancer

por Herold, Natalie, Schmolling, Johanna, Ernst, Corinna, Ataseven, Beyhan, Blümcke, Britta, Schömig‐Markiefka, Birgid, Heikaus, Sebastian, Göhring, Uwe‐Jochen, Engel, Christoph, Lampe, Björn, Rhiem, Kerstin, Harter, Philipp, Hauke, Jan, Schmutzler, Rita K., Hahnen, Eric
Publicado 2023

Sensitivity and specificity of loss of heterozygosity analysis for the classification of rare germline variants in BRCA1/2: results of the observational AGO-TR1 study (NCT02222883)

por Hauke, Jan, Harter, Philipp, Ernst, Corinna, Burges, Alexander, Schmidt, Sandra, Reuss, Alexander, Borde, Julika, De Gregorio, Nikolaus, Dietrich, Dimo, El-Balat, Ahmed, Kayali, Mohamad, Gevensleben, Heidrun, Hilpert, Felix, Altmüller, Janine, Heimbach, André, Meier, Werner, Schoemig-Markiefka, Birgid, Thiele, Holger, Kimmig, Rainer, Nürnberg, Peter, Kast, Karin, Richters, Lisa, Sehouli, Jalid, Schmutzler, Rita K, Hahnen, Eric
Publicado 2022

Prevalence of Cancer Predisposition Germline Variants in Male Breast Cancer Patients: Results of the German Consortium for Hereditary Breast and Ovarian Cancer

por Rolfes, Muriel, Borde, Julika, Möllenhoff, Kathrin, Kayali, Mohamad, Ernst, Corinna, Gehrig, Andrea, Sutter, Christian, Ramser, Juliane, Niederacher, Dieter, Horváth, Judit, Arnold, Norbert, Meindl, Alfons, Auber, Bernd, Rump, Andreas, Wang-Gohrke, Shan, Ritter, Julia, Hentschel, Julia, Thiele, Holger, Altmüller, Janine, Nürnberg, Peter, Rhiem, Kerstin, Engel, Christoph, Wappenschmidt, Barbara, Schmutzler, Rita K., Hahnen, Eric, Hauke, Jan
Publicado 2022

An evaluation of the challenges to developing tumor BRCA1 and BRCA2 testing methodologies for clinical practice

por Ellison, Gillian, Ahdesmäki, Miika, Luke, Sally, Waring, Paul M., Wallace, Andrew, Wright, Ronnie, Röthlisberger, Benno, Ludin, Katja, Merkelbach‐Bruse, Sabine, Heydt, Carina, Ligtenberg, Marjolijn J.L., Mensenkamp, Arjen R., de Castro, David Gonzalez, Jones, Thomas, Vivancos, Ana, Kondrashova, Olga, Pauwels, Patrick, Weyn, Christine, Hahnen, Eric, Hauke, Jan, Soong, Richie, Lai, Zhongwu, Dougherty, Brian, Carr, T. Hedley, Johnson, Justin, Mills, John, Barrett, J. Carl
Publicado 2017

Prevalence of pathogenic BRCA1/2 germline mutations among 802 women with unilateral triple-negative breast cancer without family cancer history

por Engel, Christoph, Rhiem, Kerstin, Hahnen, Eric, Loibl, Sibylle, Weber, Karsten E., Seiler, Sabine, Zachariae, Silke, Hauke, Jan, Wappenschmidt, Barbara, Waha, Anke, Blümcke, Britta, Kiechle, Marion, Meindl, Alfons, Niederacher, Dieter, Bartram, Claus R., Speiser, Dorothee, Schlegelberger, Brigitte, Arnold, Norbert, Wieacker, Peter, Leinert, Elena, Gehrig, Andrea, Briest, Susanne, Kast, Karin, Riess, Olaf, Emons, Günter, Weber, Bernhard H. F., Engel, Jutta, Schmutzler, Rita K.
Publicado 2018

Germline loss-of-function variants in the BARD1 gene are associated with early-onset familial breast cancer but not ovarian cancer

por Weber-Lassalle, Nana, Borde, Julika, Weber-Lassalle, Konstantin, Horváth, Judit, Niederacher, Dieter, Arnold, Norbert, Kaulfuß, Silke, Ernst, Corinna, Paul, Victoria G., Honisch, Ellen, Klaschik, Kristina, Volk, Alexander E., Kubisch, Christian, Rapp, Steffen, Lichey, Nadine, Altmüller, Janine, Lepkes, Louisa, Pohl-Rescigno, Esther, Thiele, Holger, Nürnberg, Peter, Larsen, Mirjam, Richters, Lisa, Rhiem, Kerstin, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric, Hauke, Jan
Publicado 2019

Ovarian Cancer–Specific BRCA-like Copy-Number Aberration Classifiers Detect Mutations Associated with Homologous Recombination Deficiency in the AGO-TR1 Trial

por Schouten, Philip C., Richters, Lisa, Vis, Daniel J., Kommoss, Stefan, van Dijk, Ewald, Ernst, Corinna, Kluin, Roelof J.C., Marmé, Frederik, Lips, Esther H., Schmidt, Sandra, Scheerman, Esther, Prieske, Katharina, van Deurzen, Carolien H.M., Burges, Alexander, Ewing-Graham, Patricia C., Dietrich, Dimo, Jager, Agnes, de Gregorio, Nikolaus, Hauke, Jan, du Bois, Andreas, Nederlof, Petra M., Wessels, Lodewyk F., Hahnen, Eric, Harter, Philipp, Linn, Sabine C., Schmutzler, Rita K.
Publicado 2021

Prevalence of deleterious germline variants in risk genes including BRCA1/2 in consecutive ovarian cancer patients (AGO-TR-1)

por Harter, Philipp, Hauke, Jan, Heitz, Florian, Reuss, Alexander, Kommoss, Stefan, Marmé, Frederik, Heimbach, André, Prieske, Katharina, Richters, Lisa, Burges, Alexander, Neidhardt, Guido, de Gregorio, Nikolaus, El-Balat, Ahmed, Hilpert, Felix, Meier, Werner, Kimmig, Rainer, Kast, Karin, Sehouli, Jalid, Baumann, Klaus, Jackisch, Christian, Park-Simon, Tjoung-Won, Hanker, Lars, Kröber, Sandra, Pfisterer, Jacobus, Gevensleben, Heidrun, Schnelzer, Andreas, Dietrich, Dimo, Neunhöffer, Tanja, Krockenberger, Mathias, Brucker, Sara Y., Nürnberg, Peter, Thiele, Holger, Altmüller, Janine, Lamla, Josefin, Elser, Gabriele, du Bois, Andreas, Hahnen, Eric, Schmutzler, Rita
Publicado 2017

BRIP1 loss-of-function mutations confer high risk for familial ovarian cancer, but not familial breast cancer

por Weber-Lassalle, Nana, Hauke, Jan, Ramser, Juliane, Richters, Lisa, Groß, Eva, Blümcke, Britta, Gehrig, Andrea, Kahlert, Anne-Karin, Müller, Clemens R., Hackmann, Karl, Honisch, Ellen, Weber-Lassalle, Konstantin, Niederacher, Dieter, Borde, Julika, Thiele, Holger, Ernst, Corinna, Altmüller, Janine, Neidhardt, Guido, Nürnberg, Peter, Klaschik, Kristina, Schroeder, Christopher, Platzer, Konrad, Volk, Alexander E., Wang-Gohrke, Shan, Just, Walter, Auber, Bernd, Kubisch, Christian, Schmidt, Gunnar, Horvath, Judit, Wappenschmidt, Barbara, Engel, Christoph, Arnold, Norbert, Dworniczak, Bernd, Rhiem, Kerstin, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric
Publicado 2018

Gene panel testing of 5589 BRCA1/2‐negative index patients with breast cancer in a routine diagnostic setting: results of the German Consortium for Hereditary Breast and Ovarian Ca...

por Hauke, Jan, Horvath, Judit, Groß, Eva, Gehrig, Andrea, Honisch, Ellen, Hackmann, Karl, Schmidt, Gunnar, Arnold, Norbert, Faust, Ulrike, Sutter, Christian, Hentschel, Julia, Wang‐Gohrke, Shan, Smogavec, Mateja, Weber, Bernhard H. F., Weber‐Lassalle, Nana, Weber‐Lassalle, Konstantin, Borde, Julika, Ernst, Corinna, Altmüller, Janine, Volk, Alexander E., Thiele, Holger, Hübbel, Verena, Nürnberg, Peter, Keupp, Katharina, Versmold, Beatrix, Pohl, Esther, Kubisch, Christian, Grill, Sabine, Paul, Victoria, Herold, Natalie, Lichey, Nadine, Rhiem, Kerstin, Ditsch, Nina, Ruckert, Christian, Wappenschmidt, Barbara, Auber, Bernd, Rump, Andreas, Niederacher, Dieter, Haaf, Thomas, Ramser, Juliane, Dworniczak, Bernd, Engel, Christoph, Meindl, Alfons, Schmutzler, Rita K., Hahnen, Eric
Publicado 2018

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk

por Stolarova, Lenka, Kleiblova, Petra, Zemankova, Petra, Stastna, Barbora, Janatova, Marketa, Soukupova, Jana, Achatz, Maria Isabel, Ambrosone, Christine, Apostolou, Paraskevi, Arun, Banu K., Auer, Paul, Barnard, Mollie, Bertelsen, Birgitte, Blok, Marinus J., Boddicker, Nicholas, Brunet, Joan, Burnside, Elizabeth S., Calvello, Mariarosaria, Campbell, Ian, Chan, Sock Hoai, Chen, Fei, Chiang, Jian Bang, Coppa, Anna, Cortesi, Laura, Crujeiras-González, Ana, De Leeneer, Kim, De Putter, Robin, DePersia, Allison, Devereux, Lisa, Domchek, Susan, Efremidis, Anna, Engel, Christoph, Ernst, Corinna, Evans, D. Gareth R., Feliubadaló, Lidia, Fostira, Florentia, Fuentes-Ríos, Olivia, Gómez-García, Encarna B., González, Sara, Haiman, Christopher, Hansen, Thomas van Overeem, Hauke, Jan, Hodge, James, Hu, Chunling, Huang, Hongyan, Ishak, Nur Diana Binte, Iwasaki, Yusuke, Konstantopoulou, Irene, Kraft, Peter, Lacey, James, Lázaro, Conxi, Li, Na, Lim, Weng Khong, Lindstrom, Sara, Lori, Adriana, Martinez, Elana, Martins, Alexandra, Matsuda, Koichi, Matullo, Giuseppe, McInerny, Simone, Michailidou, Kyriaki, Montagna, Marco, Monteiro, Alvaro N.A., Mori, Luigi, Nathanson, Katherine, Neuhausen, Susan L., Nevanlinna, Heli, Olson, Janet E., Palmer, Julie, Pasini, Barbara, Patel, Alpa, Piane, Maria, Poppe, Bruce, Radice, Paolo, Renieri, Alessandra, Resta, Nicoletta, Richardson, Marcy E., Rosseel, Toon, Ruddy, Kathryn J., Santamariña, Marta, Dos Santos, Elizabeth Santana, Teras, Lauren, Toland, Amanda E., Trentham-Dietz, Amy, Vachon, Celine M., Volk, Alexander E., Weber-Lassalle, Nana, Weitzel, Jeffrey N., Wiesmuller, Lisa, Winham, Stacey, Yadav, Siddhartha, Yannoukakos, Drakoulis, Yao, Song, Zampiga, Valentina, Zethoven, Magnus, Zhang, Ze Wen, Zima, Tomas, Spurdle, Amanda B., Vega, Ana, Rossing, Maria, Del Valle, Jesús, De Nicolo, Arcangela, Hahnen, Eric, Claes, Kathleen B.M., Ngeow, Joanne, Momozawa, Yukihide, James, Paul A., Couch, Fergus J., Macurek, Libor, Kleibl, Zdenek
Publicado 2023