Hereditary Breast and Ovarian Cancer Service in Sparsely Populated Western Pomerania

por Felbor, Ute, Bülow, Robin, Schmutzler, Rita K., Rath, Matthias
Publicado 2022

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

Decision Aids for Preventive Treatment Alternatives for BRCA1/2 Mutation Carriers: a Systematic Review

por Krassuski, Lisa Marlene, Kautz-Freimuth, Sibylle, Vennedey, Vera, Rhiem, Kerstin, Schmutzler, Rita K., Stock, Stephanie
Publicado 2021

Psychological factors and the uptake of preventative measures in BRCA1/2 pathogenic variant carriers: results of a prospective cohort study

por Dick, Julia, Tüchler, Anja, Brédart, Anne, Vitinius, Frank, Wassermann, Kirsten, Rhiem, Kerstin, Schmutzler, Rita K.
Publicado 2022

TP53-binding protein variants and breast cancer risk: a case-control study

por Frank, Bernd, Hemminki, Kari, Bermejo, Justo Lorenzo, Klaes, Rüdiger, Bugert, Peter, Wappenschmidt, Barbara, Schmutzler, Rita K, Burwinkel, Barbara
Publicado 2005

Olaparib for metastatic breast cancer in a patient with a germline PALB2 variant

por Kuemmel, Sherko, Harrach, Hakima, Schmutzler, Rita K., Kostara, Athina, Ziegler-Löhr, Katja, Dyson, Mark H., Chiari, Ouafaa, Reinisch, Mattea
Publicado 2020

Transcription factor 7-like 2 (TCF7L2) variant is associated with familial breast cancer risk: a case-control study

por Burwinkel, Barbara, Shanmugam, Kalai S, Hemminki, Kari, Meindl, Alfons, Schmutzler, Rita K, Sutter, Christian, Wappenschmidt, Barbara, Kiechle, Marion, Bartram, Claus R, Frank, Bernd
Publicado 2006

BRIP1 (BACH1) variants and familial breast cancer risk: a case-control study

por Frank, Bernd, Hemminki, Kari, Meindl, Alfons, Wappenschmidt, Barbara, Sutter, Christian, Kiechle, Marion, Bugert, Peter, Schmutzler, Rita K, Bartram, Claus R, Burwinkel, Barbara
Publicado 2007

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

Biallelic germline BRCA1 mutations in a patient with early onset breast cancer, mild Fanconi anemia‐like phenotype, and no chromosome fragility

por Keupp, Katharina, Hampp, Stephanie, Hübbel, Annette, Maringa, Monika, Kostezka, Sarah, Rhiem, Kerstin, Waha, Anke, Wappenschmidt, Barbara, Pujol, Roser, Surrallés, Jordi, Schmutzler, Rita K., Wiesmüller, Lisa, Hahnen, Eric
Publicado 2019

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

Prevalence of BRCA1 and BRCA2 Mutations in Patients with Primary Ovarian Cancer – Does the German Checklist for Detecting the Risk of Hereditary Breast and Ovarian Cancer Adequatel...

por Ataseven, Beyhan, Tripon, Denise, Rhiem, Kerstin, Harter, Philipp, Schneider, Stephanie, Heitz, Florian, Baert, Thais, Traut, Alexander, Pauly, Nina, Ehmann, Sarah, Plett, Helmut, Schmutzler, Rita K., du Bois, Andreas
Publicado 2020

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

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

The risk of contralateral breast cancer in patients from BRCA1/2 negative high risk families as compared to patients from BRCA1 or BRCA2 positive families: a retrospective cohort s...

por Rhiem, Kerstin, Engel, Christoph, Graeser, Monika, Zachariae, Silke, Kast, Karin, Kiechle, Marion, Ditsch, Nina, Janni, Wolfgang, Mundhenke, Christoph, Golatta, Michael, Varga, Dominic, Preisler-Adams, Sabine, Heinrich, Tilman, Bick, Ulrich, Gadzicki, Dorothea, Briest, Susanne, Meindl, Alfons, Schmutzler, Rita K
Publicado 2012

Feasibility of structured endurance training and Mediterranean diet in BRCA1 and BRCA2 mutation carriers – an interventional randomized controlled multicenter trial (LIBRE-1)

por Kiechle, Marion, Dukatz, Ricarda, Yahiaoui-Doktor, Maryam, Berling, Anika, Basrai, Maryam, Staiger, Vera, Niederberger, Uwe, Marter, Nicole, Lammert, Jacqueline, Grill, Sabine, Pfeifer, Katharina, Rhiem, Kerstin, Schmutzler, Rita K., Laudes, Matthias, Siniatchkin, Michael, Halle, Martin, Bischoff, Stephan C., Engel, Christoph
Publicado 2017

Nuclear receptor coregulator SNP discovery and impact on breast cancer risk

por Hartmaier, Ryan J, Tchatchou, Sandrine, Richter, Alexandra S, Wang, Jay, McGuire, Sean E, Skaar, Todd C, Rae, Jimmy M, Hemminki, Kari, Sutter, Christian, Ditsch, Nina, Bugert, Peter, Weber, Bernhard HF, Niederacher, Dieter, Arnold, Norbert, Varon-Mateeva, Raymonda, Wappenschmidt, Barbara, Schmutzler, Rita K, Meindl, Alfons, Bartram, Claus R, Burwinkel, Barbara, Oesterreich, Steffi
Publicado 2009

Polygenic risk scores indicate extreme ages at onset of breast cancer in female BRCA1/2 pathogenic variant carriers

por Borde, Julika, Laitman, Yael, Blümcke, Britta, Niederacher, Dieter, Weber-Lassalle, Konstantin, Sutter, Christian, Rump, Andreas, Arnold, Norbert, Wang-Gohrke, Shan, Horváth, Judit, Gehrig, Andrea, Schmidt, Gunnar, Dutrannoy, Véronique, Ramser, Juliane, Hentschel, Julia, Meindl, Alfons, Schroeder, Christopher, Wappenschmidt, Barbara, Engel, Christoph, Kuchenbaecker, Karoline, Schmutzler, Rita K., Friedman, Eitan, Hahnen, Eric, Ernst, Corinna
Publicado 2022

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