Prediction and Assessment of Splicing Alterations: Implications for clinical testing

por Spurdle, Amanda B., Couch, Fergus J., Hogervorst, Frans B. L., Radice, Paolo, Sinilnikova, Olga M.
Publicado 2008

Tumor Characteristics as an Analytic Tool for Classifying Genetic Variants of Uncertain Clinical Significance

por Hofstra, Robert M.W., Spurdle, Amanda B., Eccles, Diana, Foulkes, William D., de Wind, Niels, Hoogerbrugge, Nicoline, Hogervorst, Frans B.L.
Publicado 2008

The spectrum of ATM missense variants and their contribution to contralateral breast cancer

por Broeks, Annegien, Braaf, Linde M., Huseinovic, Angelina, Schmidt, Marjanka K., Russell, Nicola S., van Leeuwen, Flora E., Hogervorst, Frans B. L., Van ‘t Veer, Laura J.
Publicado 2007

BRCAness digitalMLPA profiling predicts benefit of intensified platinum-based chemotherapy in triple-negative and luminal-type breast cancer

por Lips, Esther H., Benard-Slagter, Anne, Opdam, Mark, Scheerman, Caroline E., Wesseling, Jelle, Hogervorst, Frans B. L., Linn, Sabine C., Savola, Suvi, Nederlof, Petra M.
Publicado en Breast Cancer Res (2020)

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results

por Plon, Sharon E., Eccles, Diana M., Easton, Douglas, Foulkes, William D., Genuardi, Maurizio, Greenblatt, Marc S., Hogervorst, Frans B.L., Hoogerbrugge, Nicoline, Spurdle, Amanda B., Tavtigian, Sean
Publicado 2008

Clustering of known low and moderate risk alleles rather than a novel recessive high‐risk gene in non‐BRCA1/2 sib trios affected with breast cancer

por Hilbers, Florentine S., van ‘t Hof, Peter J., Meijers, Caro M., Mei, Hailiang, Michailidou, Kyriaki, Dennis, Joe, Hogervorst, Frans B. L., Nederlof, Petra M., van Asperen, Christi J., Devilee, Peter
Publicado en Int J Cancer (2020)

The uptake of predictive DNA testing in 40 families with a pathogenic BRCA1/BRCA2 variant. An evaluation of the proband-mediated procedure

por Menko, Fred H., Jeanson, Kiki N., Bleiker, Eveline M. A., van Tiggelen, Carla W. M., Hogervorst, Frans B. L., ter Stege, Jacqueline A., Ait Moha, Daoud, van der Kolk, Lizet E.
Publicado en Eur J Hum Genet (2020)

Adding In Silico Assessment of Potential Splice Aberration to the Integrated Evaluation of BRCA Gene Unclassified Variants

por Vallée, Maxime P., Di Sera, Tonya L., Nix, David A., Paquette, Andrew M., Parsons, Michael T., Bell, Russel, Hoffman, Andrea, Hogervorst, Frans B. L., Goldgar, David E., Spurdle, Amanda B., Tavtigian, Sean V.
Publicado en Hum Mutat (2016)

Recurrent HOXB13 mutations in the Dutch population do not associate with increased breast cancer risk

por Liu, Jingjing, Prager–van der Smissen, Wendy J. C., Schmidt, Marjanka K., Collée, J. Margriet, Cornelissen, Sten, Lamping, Roy, Nieuwlaat, Anja, Foekens, John A., Hooning, Maartje J., Verhoef, Senno, van den Ouweland, Ans M. W., Hogervorst, Frans B. L., Martens, John W. M., Hollestelle, Antoinette
Publicado en Sci Rep (2016)

Clinical testing of BRCA1 and BRCA2: a worldwide snapshot of technological practices

por Toland, Amanda Ewart, Forman, Andrea, Couch, Fergus J., Culver, Julie O., Eccles, Diana M., Foulkes, William D., Hogervorst, Frans B. L., Houdayer, Claude, Levy-Lahad, Ephrat, Monteiro, Alvaro N., Neuhausen, Susan L., Plon, Sharon E., Sharan, Shyam K., Spurdle, Amanda B., Szabo, Csilla, Brody, Lawrence C.
Publicado en NPJ Genom Med (2018)

Uptake of prenatal diagnostic testing for retinoblastoma compared to other hereditary cancer syndromes in the Netherlands

por Dommering, Charlotte J., Henneman, Lidewij, van der Hout, Annemarie H., Jonker, Marianne A., Tops, Carli M. J., van den Ouweland, Ans M. W., van der Luijt, Rob B., Mensenkamp, Arjen R., Hogervorst, Frans B. L., Redeker, Egbert J. W., de Die-Smulders, Christine E. M., Moll, Annette C., Meijers-Heijboer, Hanne
Publicado en Fam Cancer (2016)

A simple method for co-segregation analysis to evaluate the pathogenicity of unclassified variants; BRCA1 and BRCA2 as an example

por Mohammadi, Leila, Vreeswijk, Maaike P, Oldenburg, Rogier, van den Ouweland, Ans, Oosterwijk, Jan C, van der Hout, Annemarie H, Hoogerbrugge, Nicoline, Ligtenberg, Marjolijn, Ausems, Margreet G, van der Luijt, Rob B, Dommering, Charlotte J, Gille, Johan J, Verhoef, Senno, Hogervorst, Frans B, van Os, Theo A, Gómez García, Encarna, Blok, Marinus J, Wijnen, Juul T, Helmer, Quinta, Devilee, Peter, van Asperen, Christi J, van Houwelingen, Hans C
Publicado 2009

Correction: Evaluation of copy-number variants as modifiers of breast and ovarian cancer risk for BRCA1 pathogenic variant carriers

por Walker, Logan C., Marquart, Louise, Pearson, John F., Wiggins, George A. R., O’Mara, Tracy A., Parsons, Michael T., Barrowdale, Daniel, McGuffog, Lesley, Dennis, Joe, Benitez, Javier, Slavin, Thomas P., Radice, Paolo, Frost, Debra, Godwin, Andrew K., Meindl, Alfons, Schmutzler, Rita Katharina, Isaacs, Claudine, Peshkin, Beth N., Caldes, Trinidad, Hogervorst, Frans B. L., Lazaro, Conxi, Jakubowska, Anna, Montagna, Marco, Chen, Xiaoqing, Offit, Kenneth, Hulick, Peter J., Andrulis, Irene L., Lindblom, Annika, Nussbaum, Robert L., Nathanson, Katherine L., Chenevix-Trench, Georgia, Antoniou, Antonis C., Couch, Fergus J., Spurdle, Amanda B.
Publicado en Eur J Hum Genet (2018)

Common variants associated with breast cancer in genome-wide association studies are modifiers of breast cancer risk in BRCA1 and BRCA2 mutation carriers

por Wang, Xianshu, Pankratz, V. Shane, Fredericksen, Zachary, Tarrell, Robert, Karaus, Mary, McGuffog, Lesley, Pharaoh, Paul D.P., Ponder, Bruce A.J., Dunning, Alison M., Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Houdayer, Claude, Hogervorst, Frans B.L., Hooning, Maartje J., Ligtenberg, Marjolijn J., Spurdle, Amanda, Chenevix-Trench, Georgia, Schmutzler, Rita K., Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Timothy R., Singer, Christian F., Gschwantler-Kaulich, Daphne, Dressler, Catherina, Fink, Anneliese, Szabo, Csilla I., Zikan, Michal, Foretova, Lenka, Claes, Kathleen, Thomas, Gilles, Hoover, Robert N., Hunter, David J., Chanock, Stephen J., Easton, Douglas F., Antoniou, Antonis C., Couch, Fergus J.
Publicado 2010

No evidence that GATA3 rs570613 SNP modifies breast cancer risk

por Johnatty, Sharon E., Couch, Fergus J., Fredericksen, Zachary, Tarrell, Robert, Spurdle, Amanda B., Beesley, Jonathan, Chen, Xiaoqing, Gschwantler-Kaulich, Daphne, Singer, Christian F., Fuerhauser, Christine, Fink-Retter, Anneliese, Domchek, Susan M., Nathanson, Katherine L., Pankratz, Vernon S., Lindor, Noralane M., Godwin, Andrew K., Caligo, Maria A., Hopper, John, Southey, Melissa C., Giles, Graham G., Justenhoven, Christina, Brauch, Hiltrud, Hamann, Ute, Ko, Yon-Dschun, Heikkinen, Tuomas, Aaltonen, Kirsimari, Aittomäki, Kristiina, Blomqvist, Carl, Nevanlinna, Heli, Hall, Per, Czene, Kamila, Liu, Jianjun, Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Rosalind, Pichert, Gabriella, Eccles, Diana, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Douglas, Fiona, Chu, Carol, Hodgson, Shirley, Paterson, Joan, Hogervorst, Frans B.L., Rookus, Matti A., Seynaeve, Caroline, Wijnen, Juul, Vreeswijk, Maaike, Ligtenberg, Marjolijn, Luijt, Rob B. van der, van Os, Theo A.M., Gille, Hans J.P., Blok, Marinus J., Issacs, Claudine, Humphreys, Manjeet K., McGuffog, Lesley, Healey, Sue, Sinilnikova, Olga, Antoniou, Antonis C., Easton, Douglas F., Chenevix-Trench, Georgia
Publicado 2008

Evidence for SMAD3 as a modifier of breast cancer risk in BRCA2 mutation carriers

por Walker, Logan C, Fredericksen, Zachary S, Wang, Xianshu, Tarrell, Robert, Pankratz, Vernon S, Lindor, Noralane M, Beesley, Jonathan, Healey, Sue, Chen, Xiaoqing, Stoppa-Lyonnet, Dominique, Tirapo, Carole, Giraud, Sophie, Mazoyer, Sylvie, Muller, Danièle, Fricker, Jean-Pierre, Delnatte, Capucine, Schmutzler, Rita K, Wappenschmidt, Barbara, Engel, Christoph, Schönbuchner, Ines, Deissler, Helmut, Meindl, Alfons, Hogervorst, Frans B, Verheus, Martijn, Hooning, Maartje J, van den Ouweland, Ans MW, Nelen, Marcel R, Ausems, Margreet GEM, Aalfs, Cora M, van Asperen, Christi J, Devilee, Peter, Gerrits, Monique M, Waisfisz, Quinten, Szabo, Csilla I, Easton, Douglas F, Peock, Susan, Cook, Margaret, Oliver, Clare T, Frost, Debra, Harrington, Patricia, Evans, D Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Chu, Carol, Davidson, Rosemarie, Eccles, Diana, Ong, Kai-Ren, Cook, Jackie, Rebbeck, Tim, Nathanson, Katherine L, Domchek, Susan M, Singer, Christian F, Gschwantler-Kaulich, Daphne, Dressler, Anne-Catharina, Pfeiler, Georg, Godwin, Andrew K, Heikkinen, Tuomas, Nevanlinna, Heli, Agnarsson, Bjarni A, Caligo, Maria Adelaide, Olsson, Håkan, Kristoffersson, Ulf, Liljegren, Annelie, Arver, Brita, Karlsson, Per, Melin, Beatrice, Sinilnikova, Olga M, McGuffog, Lesley, Antoniou, Antonis C, Chenevix-Trench, Georgia, Spurdle, Amanda B, Couch, Fergus J
Publicado 2010

Common Breast Cancer-Predisposition Alleles Are Associated with Breast Cancer Risk in BRCA1 and BRCA2 Mutation Carriers

por Antoniou, Antonis C., Spurdle, Amanda B., Sinilnikova, Olga M., Healey, Sue, Pooley, Karen A., Schmutzler, Rita K., Versmold, Beatrix, Engel, Christoph, Meindl, Alfons, Arnold, Norbert, Hofmann, Wera, Sutter, Christian, Niederacher, Dieter, Deissler, Helmut, Caldes, Trinidad, Kämpjärvi, Kati, Nevanlinna, Heli, Simard, Jacques, Beesley, Jonathan, Chen, Xiaoqing, Neuhausen, Susan L., Rebbeck, Timothy R., Wagner, Theresa, Lynch, Henry T., Isaacs, Claudine, Weitzel, Jeffrey, Ganz, Patricia A., Daly, Mary B., Tomlinson, Gail, Olopade, Olufunmilayo I., Blum, Joanne L., Couch, Fergus J., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Radice, Paolo, Szabo, Csilla I., Pereira, Lutecia H. Mateus, Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Barnett-Griness, Ofra, Andrulis, Irene L., Ozcelik, Hilmi, Gerdes, Anne-Marie, Caligo, Maria A., Laitman, Yael, Kaufman, Bella, Milgrom, Roni, Friedman, Eitan, Domchek, Susan M., Nathanson, Katherine L., Osorio, Ana, Llort, Gemma, Milne, Roger L., Benítez, Javier, Hamann, Ute, Hogervorst, Frans B.L., Manders, Peggy, Ligtenberg, Marjolijn J.L., van den Ouweland, Ans M.W., Peock, Susan, Cook, Margaret, Platte, Radka, Evans, D. Gareth, Eeles, Rosalind, Pichert, Gabriella, Chu, Carol, Eccles, Diana, Davidson, Rosemarie, Douglas, Fiona, Godwin, Andrew K., Barjhoux, Laure, Mazoyer, Sylvie, Sobol, Hagay, Bourdon, Violaine, Eisinger, François, Chompret, Agnès, Capoulade, Corinne, Bressac-de Paillerets, Brigitte, Lenoir, Gilbert M., Gauthier-Villars, Marion, Houdayer, Claude, Stoppa-Lyonnet, Dominique, Chenevix-Trench, Georgia, Easton, Douglas F.
Publicado 2008

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

por Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segrè, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, GEMO Study Collaborators, Hogervorst, Frans B. L., Rookus, Matti A., Collée, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldés, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Overeem Hansen, Thomas V., Nielsen, Finn C., Greene, Mark H., Mai, Phuong L., Osorio, Ana, Durán, Mercedes, Andres, Raquel, Benítez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., Offit, Kenneth
Publicado 2010

Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

por Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segrè, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, GEMO Study Collaborators, Hogervorst, Frans B. L., Rookus, Matti A., Collée, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldés, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Overeem Hansen, Thomas V., Nielsen, Finn C., Greene, Mark I., Mai, Phuong L., Osorio, Ana, Durán, Mercedes, Andres, Raquel, Benítez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., Offit, Kenneth
Publicado 2010

Correction: Common Genetic Variants and Modification of Penetrance of BRCA2-Associated Breast Cancer

por Gaudet, Mia M., Kirchhoff, Tomas, Green, Todd, Vijai, Joseph, Korn, Joshua M., Guiducci, Candace, Segrè, Ayellet V., McGee, Kate, McGuffog, Lesley, Kartsonaki, Christiana, Morrison, Jonathan, Healey, Sue, Sinilnikova, Olga M., Stoppa-Lyonnet, Dominique, Mazoyer, Sylvie, Gauthier-Villars, Marion, Sobol, Hagay, Longy, Michel, Frenay, Marc, GEMO Study Collaborators, Hogervorst, Frans B. L., Rookus, Matti A., Collée, J. Margriet, Hoogerbrugge, Nicoline, van Roozendaal, Kees E. P., Piedmonte, Marion, Rubinstein, Wendy, Nerenstone, Stacy, Van Le, Linda, Blank, Stephanie V., Caldés, Trinidad, de la Hoya, Miguel, Nevanlinna, Heli, Aittomäki, Kristiina, Lazaro, Conxi, Blanco, Ignacio, Arason, Adalgeir, Johannsson, Oskar T., Barkardottir, Rosa B., Devilee, Peter, Olopade, Olofunmilayo I., Neuhausen, Susan L., Wang, Xianshu, Fredericksen, Zachary S., Peterlongo, Paolo, Manoukian, Siranoush, Barile, Monica, Viel, Alessandra, Radice, Paolo, Phelan, Catherine M., Narod, Steven, Rennert, Gad, Lejbkowicz, Flavio, Flugelman, Anath, Andrulis, Irene L., Glendon, Gord, Ozcelik, Hilmi, Toland, Amanda E., Montagna, Marco, D'Andrea, Emma, Friedman, Eitan, Laitman, Yael, Borg, Ake, Beattie, Mary, Ramus, Susan J., Domchek, Susan M., Nathanson, Katherine L., Rebbeck, Tim, Spurdle, Amanda B., Chen, Xiaoqing, Holland, Helene, John, Esther M., Hopper, John L., Buys, Saundra S., Daly, Mary B., Southey, Melissa C., Terry, Mary Beth, Tung, Nadine, Overeem Hansen, Thomas V., Nielsen, Finn C., Greene, Mark I., Mai, Phuong L., Osorio, Ana, Durán, Mercedes, Andres, Raquel, Benítez, Javier, Weitzel, Jeffrey N., Garber, Judy, Hamann, Ute, Peock, Susan, Cook, Margaret, Oliver, Clare, Frost, Debra, Platte, Radka, Evans, D. Gareth, Lalloo, Fiona, Eeles, Ros, Izatt, Louise, Walker, Lisa, Eason, Jacqueline, Barwell, Julian, Godwin, Andrew K., Schmutzler, Rita K., Wappenschmidt, Barbara, Engert, Stefanie, Arnold, Norbert, Gadzicki, Dorothea, Dean, Michael, Gold, Bert, Klein, Robert J., Couch, Fergus J., Chenevix-Trench, Georgia, Easton, Douglas F., Daly, Mark J., Antoniou, Antonis C., Altshuler, David M., Offit, Kenneth
Publicado 2010