Late onset Li-Fraumeni Syndrome with bilateral breast cancer and other malignancies: case report and review of the literature

por Kast, Karin, Krause, Mechthild, Schuler, Markus, Friedrich, Katrin, Thamm, Barbara, Bier, Andrea, Distler, Wolfgang, Krüger, Stefan
Publicado 2012

Germline truncating-mutations in BRCA1 and MSH6 in a patient with early onset endometrial cancer

por Kast, Karin, Neuhann, Teresa M, Görgens, Heike, Becker, Kerstin, Keller, Katja, Klink, Barbara, Aust, Daniela, Distler, Wolfgang, Schröck, Evelin, Schackert, Hans K
Publicado 2012

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

RPA and Rad51 constitute a cell intrinsic mechanism to protect the cytosol from self DNA

por Wolf, Christine, Rapp, Alexander, Berndt, Nicole, Staroske, Wolfgang, Schuster, Max, Dobrick-Mattheuer, Manuela, Kretschmer, Stefanie, König, Nadja, Kurth, Thomas, Wieczorek, Dagmar, Kast, Karin, Cardoso, M. Cristina, Günther, Claudia, Lee-Kirsch, Min Ae
Publicado 2016

Breast cancer characteristics and surgery among women with Li‐Fraumeni syndrome in Germany—A retrospective cohort study

por Rippinger, Nathalie, Fischer, Christine, Sinn, Hans‐Peter, Dikow, Nicola, Sutter, Christian, Rhiem, Kerstin, Grill, Sabine, Cremer, Friedrich W., Nguyen, Huu P., Ditsch, Nina, Kast, Karin, Hettmer, Simone, Kratz, Christian P., Schott, Sarah
Publicado 2021

Targeted capture-based NGS is superior to multiplex PCR-based NGS for hereditary BRCA1 and BRCA2 gene analysis in FFPE tumor samples

por Zakrzewski, Falk, Gieldon, Laura, Rump, Andreas, Seifert, Michael, Grützmann, Konrad, Krüger, Alexander, Loos, Sina, Zeugner, Silke, Hackmann, Karl, Porrmann, Joseph, Wagner, Johannes, Kast, Karin, Wimberger, Pauline, Baretton, Gustavo, Schröck, Evelin, Aust, Daniela, Klink, Barbara
Publicado 2019

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

Identification and Functional Testing of ERCC2 Mutations in a Multi-national Cohort of Patients with Familial Breast- and Ovarian Cancer

por Rump, Andreas, Benet-Pages, Anna, Schubert, Steffen, Kuhlmann, Jan Dominik, Janavičius, Ramūnas, Macháčková, Eva, Foretová, Lenka, Kleibl, Zdenek, Lhota, Filip, Zemankova, Petra, Betcheva-Krajcir, Elitza, Mackenroth, Luisa, Hackmann, Karl, Lehmann, Janin, Nissen, Anke, DiDonato, Nataliya, Opitz, Romy, Thiele, Holger, Kast, Karin, Wimberger, Pauline, Holinski-Feder, Elke, Emmert, Steffen, Schröck, Evelin, Klink, Barbara
Publicado 2016

Pathological Response in the Breast and Axillary Lymph Nodes after Neoadjuvant Systemic Treatment in Patients with Initially Node-Positive Breast Cancer Correlates with Disease Fre...

por Gerber, Bernd, Schneeweiss, Andreas, Möbus, Volker, Golatta, Michael, Tesch, Hans, Krug, David, Hanusch, Claus, Denkert, Carsten, Lübbe, Kristina, Heil, Jörg, Huober, Jens, Ataseven, Beyhan, Klare, Peter, Hahn, Markus, Untch, Michael, Kast, Karin, Jackisch, Christian, Thomalla, Jörg, Seither, Fenja, Blohmer, Jens-Uwe, Rhiem, Kerstin, Fasching, Peter A., Nekljudova, Valentina, Loibl, Sibylle, Kühn, Thorsten
Publicado 2022

Oral Contraceptive Use in BRCA1 and BRCA2 Mutation Carriers: Absolute Cancer Risks and Benefits

por Schrijver, Lieske H, Mooij, Thea M, Pijpe, Anouk, Sonke, Gabe S, Mourits, Marian J E, Andrieu, Nadine, Antoniou, Antonis C, Easton, Douglas F, Engel, Christoph, Goldgar, David, John, Esther M, Kast, Karin, Milne, Roger L, Olsson, Håkan, Phillips, Kelly-Anne, Terry, Mary Beth, Hopper, John L, van Leeuwen, Flora E, Rookus, Matti A
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 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

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

Contralateral breast cancer risk in patients with breast cancer and a germline-BRCA1/2 pathogenic variant undergoing radiation

por van Barele, Mark, Akdeniz, Delal, Heemskerk-Gerritsen, Bernadette A M, Andrieu, Nadine, Noguès, Catherine, van Asperen, Christi J, Wevers, Marijke, Ausems, Margreet G E M, de Bock, Geertruida H, Dommering, Charlotte J, Gómez-García, Encarnacion B, van Leeuwen, Flora E, Mooij, Thea M, Easton, Douglas F, Antoniou, Antonis C, Evans, D Gareth, Izatt, Louise, Tischkowitz, Marc, Frost, Debra, Brewer, Carole, Olah, Edit, Simard, Jacques, Singer, Christian F, Thomassen, Mads, Kast, Karin, Rhiem, Kerstin, Engel, Christoph, de la Hoya, Miguel, Foretová, Lenka, Jakubowska, Anna, Jager, Agnes, Sattler, Margriet G A, Schmidt, Marjanka K, Hooning, Maartje J
Publicado 2023

Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study

por Schrijver, Lieske H., Antoniou, Antonis C., Olsson, Håkan, Mooij, Thea M., Roos-Blom, Marie-José, Azarang, Leyla, Adlard, Julian, Ahmed, Munaza, Barrowdale, Daniel, Davidson, Rosemarie, Donaldson, Alan, Eeles, Ros, Evans, D. Gareth, Frost, Debra, Henderson, Alex, Izatt, Louise, Ong, Kai-Ren, Bonadona, Valérie, Coupier, Isabelle, Faivre, Laurence, Fricker, Jean-Pierre, Gesta, Paul, van Engelen, Klaartje, Jager, Agnes, Menko, Fred H., Mourits, Marian J.E., Singer, Christian F., Tan, Yen Y., Foretova, Lenka, Navratilova, Marie, Schmutzler, Rita K., Ellberg, Carolina, Gerdes, Anne-Marie, Caldes, Trinidad, Simard, Jacques, Olah, Edith, Jakubowska, Anna, Rantala, Johanna, Osorio, Ana, Hopper, John L., Phillips, Kelly-Anne, Milne, Roger L., Beth Terry, Mary, Noguès, Catherine, Engel, Christoph, Kast, Karin, Goldgar, David E., van Leeuwen, Flora E., Easton, Douglas F., Andrieu, Nadine, Rookus, Matti A.
Publicado 2021

Associations of height, body mass index, and weight gain with breast cancer risk in carriers of a pathogenic variant in BRCA1 or BRCA2: the BRCA1 and BRCA2 Cohort Consortium

por Kast, Karin, John, Esther M., Hopper, John L., Andrieu, Nadine, Noguès, Catherine, Mouret-Fourme, Emmanuelle, Lasset, Christine, Fricker, Jean-Pierre, Berthet, Pascaline, Mari, Véronique, Salle, Lucie, Schmidt, Marjanka K., Ausems, Margreet G. E. M., Garcia, Encarnacion B. Gomez, van de Beek, Irma, Wevers, Marijke R., Evans, D. Gareth, Tischkowitz, Marc, Lalloo, Fiona, Cook, Jackie, Izatt, Louise, Tripathi, Vishakha, Snape, Katie, Musgrave, Hannah, Sharif, Saba, Murray, Jennie, Colonna, Sarah V., Andrulis, Irene L., Daly, Mary B., Southey, Melissa C., de la Hoya, Miguel, Osorio, Ana, Foretova, Lenka, Berkova, Dita, Gerdes, Anne-Marie, Olah, Edith, Jakubowska, Anna, Singer, Christian F., Tan, Yen, Augustinsson, Annelie, Rantala, Johanna, Simard, Jacques, Schmutzler, Rita K., Milne, Roger L., Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David, van Leeuwen, Flora E., Mooij, Thea M., Antoniou, Antonis C., Easton, Douglas F., Rookus, Matti A., Engel, Christoph
Publicado 2023

The Influence of Number and Timing of Pregnancies on Breast Cancer Risk for Women With BRCA1 or BRCA2 Mutations

por Terry, Mary Beth, Liao, Yuyan, Kast, Karin, Antoniou, Antonis C, McDonald, Jasmine A, Mooij, Thea M, Engel, Christoph, Nogues, Catherine, Buecher, Bruno, Mari, Véronique, Moretta-Serra, Jessica, Gladieff, Laurence, Luporsi, Elisabeth, Barrowdale, Daniel, Frost, Debra, Henderson, Alex, Brewer, Carole, Evans, D Gareth, Eccles, Diana, Cook, Jackie, Ong, Kai-ren, Izatt, Louise, Ahmed, Munaza, Morrison, Patrick J, Dommering, Charlotte J, Oosterwijk, Jan C, Ausems, Margreet G E M, Kriege, Mieke, Buys, Saundra S, Andrulis, Irene L, John, Esther M, Daly, Mary, Friedlander, Michael, McLachlan, Sue Anne, Osorio, Ana, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F, Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Arver, Brita, Olsson, Håkan, Schmutzler, Rita K, Hopper, John L, van Leeuwen, Flora E, Goldgar, David, Milne, Roger L, Easton, Douglas F, Rookus, Matti A, Andrieu, Nadine
Publicado 2019

Oral Contraceptive Use and Breast Cancer Risk: Retrospective and Prospective Analyses From a BRCA1 and BRCA2 Mutation Carrier Cohort Study

por Schrijver, Lieske H, Olsson, Håkan, Phillips, Kelly-Anne, Terry, Mary Beth, Goldgar, David E, Kast, Karin, Engel, Christoph, Mooij, Thea M, Adlard, Julian, Barrowdale, Daniel, Davidson, Rosemarie, Eeles, Ros, Ellis, Steve, Evans, D Gareth, Frost, Debra, Izatt, Louise, Porteous, Mary E, Side, Lucy E, Walker, Lisa, Berthet, Pascaline, Bonadona, Valérie, Leroux, Dominique, Mouret-Fourme, Emmanuelle, Venat-Bouvet, Laurence, Buys, Saundra S, Southey, Melissa C, John, Esther M, Chung, Wendy K, Daly, Mary B, Bane, Anita, van Asperen, Christi J, Gómez Garcia, Encarna B, Mourits, Marian J E, van Os, Theo A M, Roos-Blom, Marie-José, Friedlander, Michael L, McLachlan, Sue-Anne, Singer, Christian F, Tan, Yen Y, Foretova, Lenka, Navratilova, Marie, Gerdes, Anne-Marie, Caldes, Trinidad, Simard, Jacques, Olah, Edith, Jakubowska, Anna, Arver, Brita, Osorio, Ana, Noguès, Catherine, Andrieu, Nadine, Easton, Douglas F, van Leeuwen, Flora E, Hopper, John L, Milne, Roger L, Antoniou, Antonis C, Rookus, Matti A
Publicado 2018

Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

por Mavaddat, Nasim, Antoniou, Antonis C., Mooij, Thea M., Hooning, Maartje J., Heemskerk-Gerritsen, Bernadette A., Noguès, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D. Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J. E., Ausems, Margreet G. E. M., Koppert, Linetta B., Hopper, John L., John, Esther M., Chung, Wendy K., Andrulis, Irene L., Daly, Mary B., Buys, Saundra S., Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Van Leeuwen, Flora E., Arver, Brita, Olsson, Håkan, Schmutzler, Rita K., Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Terry, Mary Beth, Milne, Roger L., Goldgar, David E., Rookus, Matti A., Andrieu, Nadine, Easton, Douglas F.
Publicado 2020

Correction to: Risk-reducing salpingo-oophorectomy, natural menopause, and breast cancer risk: an international prospective cohort of BRCA1 and BRCA2 mutation carriers

por Mavaddat, Nasim, Antoniou, Antonis C., Mooij, Thea M., Hooning, Maartje J., Heemskerk-Gerritsen, Bernadette A., Noguès, Catherine, Gauthier-Villars, Marion, Caron, Olivier, Gesta, Paul, Pujol, Pascal, Lortholary, Alain, Barrowdale, Daniel, Frost, Debra, Evans, D. Gareth, Izatt, Louise, Adlard, Julian, Eeles, Ros, Brewer, Carole, Tischkowitz, Marc, Henderson, Alex, Cook, Jackie, Eccles, Diana, van Engelen, Klaartje, Mourits, Marian J. E., Ausems, Margreet G. E. M., Koppert, Linetta B., Hopper, John L., John, Esther M., Chung, Wendy K., Andrulis, Irene L., Daly, Mary B., Buys, Saundra S., Benitez, Javier, Caldes, Trinidad, Jakubowska, Anna, Simard, Jacques, Singer, Christian F., Tan, Yen, Olah, Edith, Navratilova, Marie, Foretova, Lenka, Gerdes, Anne-Marie, Roos-Blom, Marie-José, Van Leeuwen, Flora E., Arver, Brita, Olsson, Håkan, Schmutzler, Rita K., Engel, Christoph, Kast, Karin, Phillips, Kelly-Anne, Terry, Mary Beth, Milne, Roger L., Goldgar, David E., Rookus, Matti A., Andrieu, Nadine, Easton, Douglas F.
Publicado 2020