Classification of MSH6 Variants of Uncertain Significance Using Functional Assays

por Frederiksen, Jane H., Jensen, Sara B., Tümer, Zeynep, Hansen, Thomas v. O.
Publicado 2021

Identification of 3 novel VHL germ-line mutations in Danish VHL patients

por Dandanell, Mette, Friis-Hansen, Lennart, Sunde, Lone, Nielsen, Finn C, Hansen, Thomas v O
Publicado 2012

Classification of the spliceogenic BRCA1 c.4096+3A>G variant as likely benign based on cosegregation data and identification of a healthy homozygous carrier

por Byrjalsen, Anna, Steffensen, Ane Y., Hansen, Thomas v. O., Wadt, Karin, Gerdes, Anne‐Marie
Publicado 2017

Identification of a Danish breast/ovarian cancer family double heterozygote for BRCA1 and BRCA2 mutations

por Steffensen, Ane Y., Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C., Hansen, Thomas V. O.
Publicado 2010

High-density SNP arrays improve detection of HER2 amplification and polyploidy in breast tumors

por Hansen, Thomas v O, Vikesaa, Jonas, Buhl, Sine S, Rossing, Henrik H, Timmermans-Wielenga, Vera, Nielsen, Finn C
Publicado 2015

Splicing analysis of 14 BRCA1 missense variants classifies nine variants as pathogenic

por Ahlborn, Lise B., Dandanell, Mette, Steffensen, Ane Y., Jønson, Lars, Nielsen, Finn C., Hansen, Thomas v. O.
Publicado 2015

Functional characterization of BRCA1 gene variants by mini-gene splicing assay

por Steffensen, Ane Y, Dandanell, Mette, Jønson, Lars, Ejlertsen, Bent, Gerdes, Anne-Marie, Nielsen, Finn C, Hansen, Thomas vO
Publicado 2014

Novel de novo BRCA2 mutation in a patient with a family history of breast cancer

por Hansen, Thomas V O, Bisgaard, Marie Luise, Jønson, Lars, Albrechtsen, Anders, Filtenborg-Barnkob, Bettina, Eiberg, Hans, Ejlertsen, Bent, Nielsen, Finn C
Publicado 2008

Identification of eight novel SDHB, SDHC, SDHD germline variants in Danish pheochromocytoma/paraganglioma patients

por Bennedbæk, Marc, Rossing, Maria, Rasmussen, Åse K., Gerdes, Anne-Marie, Skytte, Anne-Bine, Jensen, Uffe B., Nielsen, Finn C., Hansen, Thomas v. O.
Publicado 2016

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

por Djursby, Malene, Wadt, Karin, Frederiksen, Jane Hübertz, Madsen, Majbritt Busk, Berchtold, Lukas Adrian, Hasselby, Jane Preuss, Willemoe, Gro Linno, Hansen, Thomas v. O., Gerdes, Anne-Marie
Publicado 2020

Functional examination of MLH1, MSH2, and MSH6 intronic mutations identified in Danish colorectal cancer patients

por Petersen, Sanne M, Dandanell, Mette, Rasmussen, Lene J, Gerdes, Anne-Marie, Krogh, Lotte N, Bernstein, Inge, Okkels, Henrik, Wikman, Friedrik, Nielsen, Finn C, Hansen, Thomas v O
Publicado 2013

Classifications within Molecular Subtypes Enables Identification of BRCA1/BRCA2 Mutation Carriers by RNA Tumor Profiling

por Larsen, Martin J., Kruse, Torben A., Tan, Qihua, Lænkholm, Anne-Vibeke, Bak, Martin, Lykkesfeldt, Anne E., Sørensen, Kristina P., Hansen, Thomas v. O., Ejlertsen, Bent, Gerdes, Anne-Marie, Thomassen, Mads
Publicado 2013

Molecular Characterization of Melanoma Cases in Denmark Suspected of Genetic Predisposition

por Wadt, Karin A. W., Aoude, Lauren G., Krogh, Lotte, Sunde, Lone, Bojesen, Anders, Grønskov, Karen, Wartacz, Nine, Ek, Jakob, Tolstrup-Andersen, Morten, Klarskov-Andersen, Mette, Borg, Åke, Heegaard, Steffen, Kiilgaard, Jens F., Hansen, Thomas V. O., Klein, Kerenaftali, Jönsson, Göran, Drzewiecki, Krzysztof T., Dunø, Morten, Hayward, Nicholas K., Gerdes, Anne-Marie
Publicado 2015

Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes

por Byrjalsen, Anna, Hansen, Thomas V. O., Stoltze, Ulrik K., Mehrjouy, Mana M., Barnkob, Nanna Moeller, Hjalgrim, Lisa L., Mathiasen, René, Lautrup, Charlotte K., Gregersen, Pernille A., Hasle, Henrik, Wehner, Peder S., Tuckuviene, Ruta, Sackett, Peter Wad, Laspiur, Adrian O., Rossing, Maria, Marvig, Rasmus L., Tommerup, Niels, Olsen, Tina Elisabeth, Scheie, David, Gupta, Ramneek, Gerdes, Anne–Marie, Schmiegelow, Kjeld, Wadt, Karin
Publicado 2020

Ovarian and Breast Cancer Risks Associated With Pathogenic Variants in RAD51C and RAD51D

por Yang, Xin, Song, Honglin, Leslie, Goska, Engel, Christoph, Hahnen, Eric, Auber, Bernd, Horváth, Judit, Kast, Karin, Niederacher, Dieter, Turnbull, Clare, Houlston, Richard, Hanson, Helen, Loveday, Chey, Dolinsky, Jill S, LaDuca, Holly, Ramus, Susan J, Menon, Usha, Rosenthal, Adam N, Jacobs, Ian, Gayther, Simon A, Dicks, Ed, Nevanlinna, Heli, Aittomäki, Kristiina, Pelttari, Liisa M, Ehrencrona, Hans, Borg, Åke, Kvist, Anders, Rivera, Barbara, Hansen, Thomas V O, Djursby, Malene, Lee, Andrew, Dennis, Joe, Bowtell, David D, Traficante, Nadia, Diez, Orland, Balmaña, Judith, Gruber, Stephen B, Chenevix-Trench, Georgia, Investigators, kConFab, Jensen, Allan, Kjær, Susanne K, Høgdall, Estrid, Castéra, Laurent, Garber, Judy, Janavicius, Ramunas, Osorio, Ana, Golmard, Lisa, Vega, Ana, Couch, Fergus J, Robson, Mark, Gronwald, Jacek, Domchek, Susan M, Culver, Julie O, de la Hoya, Miguel, Easton, Douglas F, Foulkes, William D, Tischkowitz, Marc, Meindl, Alfons, Schmutzler, Rita K, Pharoah, Paul D P, Antoniou, Antonis C
Publicado 2020

No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database Study

por Dominguez-Valentin, Mev, Plazzer, John-Paul, Sampson, Julian R., Engel, Christoph, Aretz, Stefan, Jenkins, Mark A., Sunde, Lone, Bernstein, Inge, Capella, Gabriel, Balaguer, Francesc, Macrae, Finlay, Winship, Ingrid M., Thomas, Huw, Evans, Dafydd Gareth, Burn, John, Greenblatt, Marc, de Vos tot Nederveen Cappel, Wouter H., Sijmons, Rolf H., Nielsen, Maartje, Bertario, Lucio, Bonanni, Bernardo, Tibiletti, Maria Grazia, Cavestro, Giulia Martina, Lindblom, Annika, Valle, Adriana Della, Lopez-Kostner, Francisco, Alvarez, Karin, Gluck, Nathan, Katz, Lior, Heinimann, Karl, Vaccaro, Carlos A., Nakken, Sigve, Hovig, Eivind, Green, Kate, Lalloo, Fiona, Hill, James, Vasen, Hans F. A., Perne, Claudia, Büttner, Reinhard, Görgens, Heike, Holinski-Feder, Elke, Morak, Monika, Holzapfel, Stefanie, Hüneburg, Robert, von Knebel Doeberitz, Magnus, Loeffler, Markus, Rahner, Nils, Weitz, Jürgen, Steinke-Lange, Verena, Schmiegel, Wolff, Vangala, Deepak, Crosbie, Emma J., Pineda, Marta, Navarro, Matilde, Brunet, Joan, Moreira, Leticia, Sánchez, Ariadna, Serra-Burriel, Miquel, Mints, Miriam, Kariv, Revital, Rosner, Guy, Piñero, Tamara Alejandra, Pavicic, Walter Hernán, Kalfayan, Pablo, Broeke, Sanne W. ten, Mecklin, Jukka-Pekka, Pylvänäinen, Kirsi, Renkonen-Sinisalo, Laura, Lepistö, Anna, Peltomäki, Päivi, Hopper, John L., Win, Aung Ko, Buchanan, Daniel D., Lindor, Noralane M., Gallinger, Steven, Marchand, Loïc Le, Newcomb, Polly A., Figueiredo, Jane C., Thibodeau, Stephen N., Therkildsen, Christina, Hansen, Thomas V. O., Lindberg, Lars, Rødland, Einar Andreas, Neffa, Florencia, Esperon, Patricia, Tjandra, Douglas, Möslein, Gabriela, Seppälä, Toni T., Møller, Pål
Publicado 2021

Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women

por Rebbeck, Timothy R., Friebel, Tara M., Mitra, Nandita, Wan, Fei, Chen, Stephanie, Andrulis, Irene L., Apostolou, Paraskevi, Arnold, Norbert, Arun, Banu K., Barrowdale, Daniel, Benitez, Javier, Berger, Raanan, Berthet, Pascaline, Borg, Ake, Buys, Saundra S., Caldes, Trinidad, Carter, Jonathan, Chiquette, Jocelyne, Claes, Kathleen B. M., Couch, Fergus J., Cybulski, Cezary, Daly, Mary B., de la Hoya, Miguel, Diez, Orland, Domchek, Susan M., Nathanson, Katherine L., Durda, Katarzyna, Ellis, Steve, Evans, D. Gareth, Foretova, Lenka, Friedman, Eitan, Frost, Debra, Ganz, Patricia A., Garber, Judy, Glendon, Gord, Godwin, Andrew K., Greene, Mark H., Gronwald, Jacek, Hahnen, Eric, Hallberg, Emily, Hamann, Ute, Hansen, Thomas V. O., Imyanitov, Evgeny N., Isaacs, Claudine, Jakubowska, Anna, Janavicius, Ramunas, Jaworska-Bieniek, Katarzyna, John, Esther M., Karlan, Beth Y., Kaufman, Bella, investigators, KConFab, Kwong, Ava, Laitman, Yael, Lasset, Christine, Lazaro, Conxi, Lester, Jenny, Loman, Niklas, Lubinski, Jan, Manoukian, Siranoush, Mitchell, Gillian, Montagna, Marco, Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Nussbaum, Robert L., Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Park, Sue Kyung, Piedmonte, Marion, Radice, Paolo, Rappaport-Fuerhauser, Christine, Rookus, Matti A., Seynaeve, Caroline, Simard, Jacques, Singer, Christian F., Soucy, Penny, Southey, Melissa, Stoppa-Lyonnet, Dominique, Sukiennicki, Grzegorz, Szabo, Csilla I., Tancredi, Mariella, Teixeira, Manuel R., Teo, Soo-Hwang, Terry, Mary Beth, Thomassen, Mads, Tihomirova, Laima, Tischkowitz, Marc, Toland, Amanda Ewart, Toloczko-Grabarek, Aleksandra, Tung, Nadine, van Rensburg, Elizabeth J., Villano, Danylo, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weitzel, Jeffrey N., Zidan, Jamal, Zorn, Kristin K., McGuffog, Lesley, Easton, Douglas, Chenevix-Trench, Georgia, Antoniou, Antonis C., Ramus, Susan J.
Publicado 2016

Evaluation of a candidate breast cancer associated SNP in ERCC4 as a risk modifier in BRCA1 and BRCA2 mutation carriers. Results from the Consortium of Investigators of Modifiers o...

por Osorio, A, Milne, R L, Pita, G, Peterlongo, P, Heikkinen, T, Simard, J, Chenevix-Trench, G, Spurdle, A B, Beesley, J, Chen, X, Healey, S, Neuhausen, S L, Ding, Y C, Couch, F J, Wang, X, Lindor, N, Manoukian, S, Barile, M, Viel, A, Tizzoni, L, Szabo, C I, Foretova, L, Zikan, M, Claes, K, Greene, M H, Mai, P, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Weerasooriya, N, Gerdes, A-M, Thomassen, M, Cruger, D G, Caligo, M A, Friedman, E, Kaufman, B, Laitman, Y, Cohen, S, Kontorovich, T, Gershoni-Baruch, R, Dagan, E, Jernström, H, Askmalm, M S, Arver, B, Malmer, B, Domchek, S M, Nathanson, K L, Brunet, J, Ramón y Cajal, T, Yannoukakos, D, Hamann, U, Hogervorst, F B L, Verhoef, S, García, EB Gómez, Wijnen, J T, van den Ouweland, A, Easton, D F, Peock, S, Cook, M, Oliver, C T, Frost, D, Luccarini, C, Evans, D G, Lalloo, F, Eeles, R, Pichert, G, Cook, J, Hodgson, S, Morrison, P J, Douglas, F, Godwin, A K, Sinilnikova, O M, Barjhoux, L, Stoppa-Lyonnet, D, Moncoutier, V, Giraud, S, Cassini, C, Olivier-Faivre, L, Révillion, F, Peyrat, J-P, Muller, D, Fricker, J-P, Lynch, H T, John, E M, Buys, S, Daly, M, Hopper, J L, Terry, M B, Miron, A, Yassin, Y, Goldgar, D, Singer, C F, Gschwantler-Kaulich, D, Pfeiler, G, Spiess, A-C, Hansen, Thomas v O, Johannsson, O T, Kirchhoff, T, Offit, K, Kosarin, K, Piedmonte, M, Rodriguez, G C, Wakeley, K, Boggess, J F, Basil, J, Schwartz, P E, Blank, S V, Toland, A E, Montagna, M, Casella, C, Imyanitov, E N, Allavena, A, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Ditsch, N, Arnold, N, Niederacher, D, Deißler, H, Fiebig, B, Varon-Mateeva, R, Schaefer, D, Froster, U G, Caldes, T, de la Hoya, M, McGuffog, L, Antoniou, A C, Nevanlinna, H, Radice, P, Benítez, J
Publicado 2009

Identification of a BRCA2-Specific Modifier Locus at 6p24 Related to Breast Cancer Risk

por Gaudet, Mia M., Kuchenbaecker, Karoline B., Vijai, Joseph, Klein, Robert J., Kirchhoff, Tomas, McGuffog, Lesley, Barrowdale, Daniel, Dunning, Alison M., Lee, Andrew, Dennis, Joe, Healey, Sue, Dicks, Ed, Soucy, Penny, Sinilnikova, Olga M., Pankratz, Vernon S., Wang, Xianshu, Eldridge, Ronald C., Tessier, Daniel C., Vincent, Daniel, Bacot, Francois, Hogervorst, Frans B. L., Peock, Susan, Stoppa-Lyonnet, Dominique, Peterlongo, Paolo, Schmutzler, Rita K., Nathanson, Katherine L., Piedmonte, Marion, Singer, Christian F., Thomassen, Mads, Hansen, Thomas v. O., Neuhausen, Susan L., Blanco, Ignacio, Greene, Mark H., Garber, Judith, Weitzel, Jeffrey N., Andrulis, Irene L., Goldgar, David E., D'Andrea, Emma, Caldes, Trinidad, Nevanlinna, Heli, Osorio, Ana, van Rensburg, Elizabeth J., Arason, Adalgeir, Rennert, Gad, van den Ouweland, Ans M. W., van der Hout, Annemarie H., Kets, Carolien M., Aalfs, Cora M., Wijnen, Juul T., Ausems, Margreet G. E. M., Frost, Debra, Ellis, Steve, Fineberg, Elena, Platte, Radka, Evans, D. Gareth, Jacobs, Chris, Adlard, Julian, Tischkowitz, Marc, Porteous, Mary E., Damiola, Francesca, Golmard, Lisa, Barjhoux, Laure, Longy, Michel, Belotti, Muriel, Ferrer, Sandra Fert, Mazoyer, Sylvie, Spurdle, Amanda B., Manoukian, Siranoush, Barile, Monica, Genuardi, Maurizio, Arnold, Norbert, Meindl, Alfons, Sutter, Christian, Wappenschmidt, Barbara, Domchek, Susan M., Pfeiler, Georg, Friedman, Eitan, Jensen, Uffe Birk, Robson, Mark, Shah, Sohela, Lazaro, Conxi, Mai, Phuong L., Benitez, Javier, Southey, Melissa C., Schmidt, Marjanka K., Fasching, Peter A., Peto, Julian, Humphreys, Manjeet K., Wang, Qin, Michailidou, Kyriaki, Sawyer, Elinor J., Burwinkel, Barbara, Guénel, Pascal, Bojesen, Stig E., Milne, Roger L., Brenner, Hermann, Lochmann, Magdalena, Aittomäki, Kristiina, Dörk, Thilo, Margolin, Sara, Mannermaa, Arto, Lambrechts, Diether, Chang-Claude, Jenny, Radice, Paolo, Giles, Graham G., Haiman, Christopher A., Winqvist, Robert, Devillee, Peter, García-Closas, Montserrat, Schoof, Nils, Hooning, Maartje J., Cox, Angela, Pharoah, Paul D. P., Jakubowska, Anna, Orr, Nick, González-Neira, Anna, Pita, Guillermo, Alonso, M. Rosario, Hall, Per, Couch, Fergus J., Simard, Jacques, Altshuler, David, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Offit, Kenneth
Publicado 2013

Male breast cancer in BRCA1 and BRCA2 mutation carriers: pathology data from the Consortium of Investigators of Modifiers of BRCA1/2

por Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L., Fox, Stephen, Karlan, Beth Y., Mitchell, Gillian, James, Paul, Thull, Darcy L., Zorn, Kristin K., Carter, Natalie J., Nathanson, Katherine L., Domchek, Susan M., Rebbeck, Timothy R., Ramus, Susan J., Nussbaum, Robert L., Olopade, Olufunmilayo I., Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A., Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L., Glendon, Gord, Hulick, Peter J., Imyanitov, Evgeny N., Greene, Mark H., Mai, Phuong L., Singer, Christian F., Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J., Hallberg, Emily, Ruddy, Kathryn J., Sharma, Priyanka, Kim, Sung-Won, Teixeira, Manuel R., Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B., Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Janos, Olah, Edith, Kwong, Ava, Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen B. M., Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K., Evans, D. Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, Platte, Radka, Eeles, Ros, Ellis, Steve, Hamann, Ute, Garber, Judy, Fostira, Florentia, Fountzilas, George, Pasini, Barbara, Giannini, Giuseppe, Rizzolo, Piera, Russo, Antonio, Cortesi, Laura, Papi, Laura, Varesco, Liliana, Palli, Domenico, Zanna, Ines, Savarese, Antonella, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Barile, Monica, Bonanni, Bernardo, Viel, Alessandra, Pensotti, Valeria, Tommasi, Stefania, Peterlongo, Paolo, Weitzel, Jeffrey N., Osorio, Ana, Benitez, Javier, McGuffog, Lesley, Healey, Sue, Gerdes, Anne-Marie, Ejlertsen, Bent, Hansen, Thomas V. O., Steele, Linda, Ding, Yuan Chun, Tung, Nadine, Janavicius, Ramunas, Goldgar, David E., Buys, Saundra S., Daly, Mary B., Bane, Anita, Terry, Mary Beth, John, Esther M., Southey, Melissa, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Ottini, Laura
Publicado 2016