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1. De novo germline pathogenic variant in Lynch Syndrome: A rare event or the tip of the iceberg?

Author

Brignola, Clorinda, Volorio, Sara, De Vecchi, Giovanna, Zaffaroni, Daniela, Dall’Olio, Valentina, Mariette, Frederique, Sardella, Domenico, Capra, Fabio, Signoroni, Stefano, Rausa, Emanuele, Vitellaro, Marco, Pensotti, Valeria, and Ricci, Maria Teresa

Abstract

Lynch Syndrome is an autosomal dominant cancer predisposition syndrome caused by germline pathogenic variants or epimutation in one of the DNA mismatch repair genes. De novo pathogenic variants in mismatch repair genes have been described as a rare event in Lynch Syndrome (1-5%), although the prevalence of de novo pathogenic variants in Lynch Syndrome is probably underestimated. The de novo pathogenic variant was identified in a 26-year-old woman diagnosed with an adenocarcinoma of the caecum with mismatch repair protein deficiency at immunohistochemistry and a synchronous neuroendocrine tumor of the appendix with normal expression of mismatch repair proteins. DNA testing revealed deletion of exon 6 of the MLH1gene. It appeared to be a de novo event, as the deletion was not detected in the patient’s parents. The presence of a mosaicism in the patient was excluded and haplotype analysis demonstrated the paternal origin of the chromosome harboring the deletion. The de novo deletion probably originated either from a very early postzygotic or a single prezygotic mutational event, or from a gonadal mosaicism. In conclusion, the identification of de novo pathogenic variants is crucial to allow proper genetic counseling and appropriate management of the patient’s family.

Published
2024
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2. Data from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author

Antoniou, Antonis C., primary, Beesley, Jonathan, primary, McGuffog, Lesley, primary, Sinilnikova, Olga M., primary, Healey, Sue, primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Rebbeck, Timothy R., primary, Weitzel, Jeffrey N., primary, Lynch, Henry T., primary, Isaacs, Claudine, primary, Ganz, Patricia A., primary, Tomlinson, Gail, primary, Olopade, Olufunmilayo I., primary, Couch, Fergus J., primary, Wang, Xianshu, primary, Lindor, Noralane M., primary, Pankratz, Vernon S., primary, Radice, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Viel, Alessandra, primary, Allavena, Anna, primary, Dall'Olio, Valentina, primary, Peterlongo, Paolo, primary, Szabo, Csilla I., primary, Zikan, Michal, primary, Claes, Kathleen, primary, Poppe, Bruce, primary, Foretova, Lenka, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Rennert, Gad, primary, Lejbkowicz, Flavio, primary, Glendon, Gord, primary, Ozcelik, Hilmi, primary, Andrulis, Irene L., primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Sunde, Lone, primary, Cruger, Dorthe, primary, Birk Jensen, Uffe, primary, Caligo, Maria, primary, Friedman, Eitan, primary, Kaufman, Bella, primary, Laitman, Yael, primary, Milgrom, Roni, primary, Dubrovsky, Maya, primary, Cohen, Shimrit, primary, Borg, Ake, primary, Jernström, Helena, primary, Lindblom, Annika, primary, Rantala, Johanna, primary, Stenmark-Askmalm, Marie, primary, Melin, Beatrice, primary, Nathanson, Kate, primary, Domchek, Susan, primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Huzarski, Tomasz, primary, Osorio, Ana, primary, Lasa, Adriana, primary, Durán, Mercedes, primary, Tejada, Maria-Isabel, primary, Godino, Javier, primary, Benitez, Javier, primary, Hamann, Ute, primary, Kriege, Mieke, primary, Hoogerbrugge, Nicoline, primary, van der Luijt, Rob B., primary, Asperen, Christi J. van, primary, Devilee, Peter, primary, Meijers-Heijboer, E.J., primary, Blok, Marinus J., primary, Aalfs, Cora M., primary, Hogervorst, Frans, primary, Rookus, Matti, primary, Cook, Margaret, primary, Oliver, Clare, primary, Frost, Debra, primary, Conroy, Don, primary, Evans, D. Gareth, primary, Lalloo, Fiona, primary, Pichert, Gabriella, primary, Davidson, Rosemarie, primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Hodgson, Shirley, primary, Morrison, Patrick J., primary, Porteous, Mary E., primary, Walker, Lisa, primary, Kennedy, M. John, primary, Dorkins, Huw, primary, Peock, Susan, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, de Pauw, Antoine, primary, Mazoyer, Sylvie, primary, Bonadona, Valérie, primary, Lasset, Christine, primary, Dreyfus, Hélène, primary, Leroux, Dominique, primary, Hardouin, Agnès, primary, Berthet, Pascaline, primary, Faivre, Laurence, primary, Loustalot, Catherine, primary, Noguchi, Tetsuro, primary, Sobol, Hagay, primary, Rouleau, Etienne, primary, Nogues, Catherine, primary, Frénay, Marc, primary, Vénat-Bouvet, Laurence, primary, Hopper, John L., primary, Daly, Mary B., primary, Terry, Mary B., primary, John, Esther M., primary, Buys, Saundra S., primary, Yassin, Yosuf, primary, Miron, Alexander, primary, Goldgar, David, primary, Singer, Christian F., primary, Dressler, Anne Catharina, primary, Gschwantler-Kaulich, Daphne, primary, Pfeiler, Georg, primary, Hansen, Thomas V.O., primary, Jønson, Lars, primary, Agnarsson, Bjarni A., primary, Kirchhoff, Tomas, primary, Offit, Kenneth, primary, Devlin, Vincent, primary, Dutra-Clarke, Ana, primary, Piedmonte, Marion, primary, Rodriguez, Gustavo C., primary, Wakeley, Katie, primary, Boggess, John F., primary, Basil, Jack, primary, Schwartz, Peter E., primary, Blank, Stephanie V., primary, Toland, Amanda Ewart, primary, Montagna, Marco, primary, Casella, Cinzia, primary, Imyanitov, Evgeny, primary, Tihomirova, Laima, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Ramus, Susan J., primary, Sucheston, Lara, primary, Karlan, Beth Y., primary, Gross, Jenny, primary, Schmutzler, Rita, primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Lochmann, Magdalena, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Varon-Mateeva, Raymonda, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Dorothea, primary, Preisler-Adams, Sabine, primary, Kast, Karin, primary, Schönbuchner, Ines, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Aittomäki, Kristiina, primary, Nevanlinna, Heli, primary, Simard, Jacques, primary, Spurdle, Amanda B., primary, Holland, Helene, primary, Chen, Xiaoqing, primary, Platte, Radka, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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3. Supplementary Methods, Tables 1-3, Figure 1 from Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author

Antoniou, Antonis C., primary, Beesley, Jonathan, primary, McGuffog, Lesley, primary, Sinilnikova, Olga M., primary, Healey, Sue, primary, Neuhausen, Susan L., primary, Ding, Yuan Chun, primary, Rebbeck, Timothy R., primary, Weitzel, Jeffrey N., primary, Lynch, Henry T., primary, Isaacs, Claudine, primary, Ganz, Patricia A., primary, Tomlinson, Gail, primary, Olopade, Olufunmilayo I., primary, Couch, Fergus J., primary, Wang, Xianshu, primary, Lindor, Noralane M., primary, Pankratz, Vernon S., primary, Radice, Paolo, primary, Manoukian, Siranoush, primary, Peissel, Bernard, primary, Zaffaroni, Daniela, primary, Barile, Monica, primary, Viel, Alessandra, primary, Allavena, Anna, primary, Dall'Olio, Valentina, primary, Peterlongo, Paolo, primary, Szabo, Csilla I., primary, Zikan, Michal, primary, Claes, Kathleen, primary, Poppe, Bruce, primary, Foretova, Lenka, primary, Mai, Phuong L., primary, Greene, Mark H., primary, Rennert, Gad, primary, Lejbkowicz, Flavio, primary, Glendon, Gord, primary, Ozcelik, Hilmi, primary, Andrulis, Irene L., primary, Thomassen, Mads, primary, Gerdes, Anne-Marie, primary, Sunde, Lone, primary, Cruger, Dorthe, primary, Birk Jensen, Uffe, primary, Caligo, Maria, primary, Friedman, Eitan, primary, Kaufman, Bella, primary, Laitman, Yael, primary, Milgrom, Roni, primary, Dubrovsky, Maya, primary, Cohen, Shimrit, primary, Borg, Ake, primary, Jernström, Helena, primary, Lindblom, Annika, primary, Rantala, Johanna, primary, Stenmark-Askmalm, Marie, primary, Melin, Beatrice, primary, Nathanson, Kate, primary, Domchek, Susan, primary, Jakubowska, Ania, primary, Lubinski, Jan, primary, Huzarski, Tomasz, primary, Osorio, Ana, primary, Lasa, Adriana, primary, Durán, Mercedes, primary, Tejada, Maria-Isabel, primary, Godino, Javier, primary, Benitez, Javier, primary, Hamann, Ute, primary, Kriege, Mieke, primary, Hoogerbrugge, Nicoline, primary, van der Luijt, Rob B., primary, Asperen, Christi J. van, primary, Devilee, Peter, primary, Meijers-Heijboer, E.J., primary, Blok, Marinus J., primary, Aalfs, Cora M., primary, Hogervorst, Frans, primary, Rookus, Matti, primary, Cook, Margaret, primary, Oliver, Clare, primary, Frost, Debra, primary, Conroy, Don, primary, Evans, D. Gareth, primary, Lalloo, Fiona, primary, Pichert, Gabriella, primary, Davidson, Rosemarie, primary, Cole, Trevor, primary, Cook, Jackie, primary, Paterson, Joan, primary, Hodgson, Shirley, primary, Morrison, Patrick J., primary, Porteous, Mary E., primary, Walker, Lisa, primary, Kennedy, M. John, primary, Dorkins, Huw, primary, Peock, Susan, primary, Godwin, Andrew K., primary, Stoppa-Lyonnet, Dominique, primary, de Pauw, Antoine, primary, Mazoyer, Sylvie, primary, Bonadona, Valérie, primary, Lasset, Christine, primary, Dreyfus, Hélène, primary, Leroux, Dominique, primary, Hardouin, Agnès, primary, Berthet, Pascaline, primary, Faivre, Laurence, primary, Loustalot, Catherine, primary, Noguchi, Tetsuro, primary, Sobol, Hagay, primary, Rouleau, Etienne, primary, Nogues, Catherine, primary, Frénay, Marc, primary, Vénat-Bouvet, Laurence, primary, Hopper, John L., primary, Daly, Mary B., primary, Terry, Mary B., primary, John, Esther M., primary, Buys, Saundra S., primary, Yassin, Yosuf, primary, Miron, Alexander, primary, Goldgar, David, primary, Singer, Christian F., primary, Dressler, Anne Catharina, primary, Gschwantler-Kaulich, Daphne, primary, Pfeiler, Georg, primary, Hansen, Thomas V.O., primary, Jønson, Lars, primary, Agnarsson, Bjarni A., primary, Kirchhoff, Tomas, primary, Offit, Kenneth, primary, Devlin, Vincent, primary, Dutra-Clarke, Ana, primary, Piedmonte, Marion, primary, Rodriguez, Gustavo C., primary, Wakeley, Katie, primary, Boggess, John F., primary, Basil, Jack, primary, Schwartz, Peter E., primary, Blank, Stephanie V., primary, Toland, Amanda Ewart, primary, Montagna, Marco, primary, Casella, Cinzia, primary, Imyanitov, Evgeny, primary, Tihomirova, Laima, primary, Blanco, Ignacio, primary, Lazaro, Conxi, primary, Ramus, Susan J., primary, Sucheston, Lara, primary, Karlan, Beth Y., primary, Gross, Jenny, primary, Schmutzler, Rita, primary, Wappenschmidt, Barbara, primary, Engel, Christoph, primary, Meindl, Alfons, primary, Lochmann, Magdalena, primary, Arnold, Norbert, primary, Heidemann, Simone, primary, Varon-Mateeva, Raymonda, primary, Niederacher, Dieter, primary, Sutter, Christian, primary, Deissler, Helmut, primary, Gadzicki, Dorothea, primary, Preisler-Adams, Sabine, primary, Kast, Karin, primary, Schönbuchner, Ines, primary, Caldes, Trinidad, primary, de la Hoya, Miguel, primary, Aittomäki, Kristiina, primary, Nevanlinna, Heli, primary, Simard, Jacques, primary, Spurdle, Amanda B., primary, Holland, Helene, primary, Chen, Xiaoqing, primary, Platte, Radka, primary, Chenevix-Trench, Georgia, primary, and Easton, Douglas F., primary

Published
2023
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8. Plasma miRNA‐based signatures in CRC screening programs

Author

Zanutto, Susanna, primary, Ciniselli, Chiara Maura, additional, Belfiore, Antonino, additional, Lecchi, Mara, additional, Masci, Enzo, additional, Delconte, Gabriele, additional, Primignani, Massimo, additional, Tosetti, Giulia, additional, Dal Fante, Marco, additional, Fazzini, Linda, additional, Airoldi, Aldo, additional, Vangeli, Marcello, additional, Turpini, Francesca, additional, Rubis Passoni, Giovanni Giuseppe, additional, Viaggi, Paolo, additional, Arena, Monica, additional, Motta, Roberta Ilaria Olimpia, additional, Cantù, Anna Maria, additional, Crosta, Cristiano, additional, De Roberto, Giuseppe, additional, Iannuzzi, Francesca, additional, Cassinotti, Andrea, additional, Dall'Olio, Valentina, additional, Tizzoni, Laura, additional, Sozzi, Gabriella, additional, Meroni, Emanuele, additional, Bisanti, Luigi, additional, Pierotti, Marco Alessandro, additional, Verderio, Paolo, additional, and Gariboldi, Manuela, additional

Published
2019
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10. FANCM c.5791C > T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor

Author

Peterlongo, Paolo, Catucci, Irene, Colombo, Mara, Caleca, Laura, Mucaki, Eliseos, Bogliolo, Massimo, Marin, Maria, Damiola, Francesca, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald, Sornin, Valerie, Dondon, Marie-Gabrielle, Eon-Marchais, Severine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio, Medici, Veronica, Marchi, Isabella, Federico, Massimo, Tognazzo, Silvia, Matricardi, Laura, Agata, Simona, Dolcetti, Riccardo, Della Puppa, Lara, Cini, Giulia, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard, Roversi, Gaia, Silvestri, Valentina, Rizzolo, Piera, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana, Tommasi, Stefania, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra, Varesco, Liliana, Couch, Fergus J., Wang, Xianshu, Devilee, Peter, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra, Montagna, Marco, Cortesi, Laura, Diez, Orland, Balmana, Judith, Hauke, Jan, Schmutzler, Rita K., Papi, Laura, Angel Pujana, Miguel, Lazaro, Conxi, Falanga, Anna, Offit, Kenneth, Vijai, Joseph, Campbell, Ian, Burwinkel, Barbara, Kvist, Anders, Ehrencrona, Hans, Mazoyer, Sylvie, Pizzamiglio, Sara, Verderio, Paolo, Surralles, Jordi, Rogan, Peter K., Radice, Paolo, Peterlongo, Paolo, Catucci, Irene, Colombo, Mara, Caleca, Laura, Mucaki, Eliseos, Bogliolo, Massimo, Marin, Maria, Damiola, Francesca, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald, Sornin, Valerie, Dondon, Marie-Gabrielle, Eon-Marchais, Severine, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, Sinilnikova, Olga M., Mitchell, Gillian, James, Paul A., Thompson, Ella, Marchetti, Marina, Verzeroli, Cristina, Tartari, Carmen, Capone, Gabriele Lorenzo, Putignano, Anna Laura, Genuardi, Maurizio, Medici, Veronica, Marchi, Isabella, Federico, Massimo, Tognazzo, Silvia, Matricardi, Laura, Agata, Simona, Dolcetti, Riccardo, Della Puppa, Lara, Cini, Giulia, Gismondi, Viviana, Viassolo, Valeria, Perfumo, Chiara, Mencarelli, Maria Antonietta, Baldassarri, Margherita, Peissel, Bernard, Roversi, Gaia, Silvestri, Valentina, Rizzolo, Piera, Spina, Francesca, Vivanet, Caterina, Tibiletti, Maria Grazia, Caligo, Maria Adelaide, Gambino, Gaetana, Tommasi, Stefania, Pilato, Brunella, Tondini, Carlo, Corna, Chiara, Bonanni, Bernardo, Barile, Monica, Osorio, Ana, Benitez, Javier, Balestrino, Luisa, Ottini, Laura, Manoukian, Siranoush, Pierotti, Marco A., Renieri, Alessandra, Varesco, Liliana, Couch, Fergus J., Wang, Xianshu, Devilee, Peter, Hilbers, Florentine S., van Asperen, Christi J., Viel, Alessandra, Montagna, Marco, Cortesi, Laura, Diez, Orland, Balmana, Judith, Hauke, Jan, Schmutzler, Rita K., Papi, Laura, Angel Pujana, Miguel, Lazaro, Conxi, Falanga, Anna, Offit, Kenneth, Vijai, Joseph, Campbell, Ian, Burwinkel, Barbara, Kvist, Anders, Ehrencrona, Hans, Mazoyer, Sylvie, Pizzamiglio, Sara, Verderio, Paolo, Surralles, Jordi, Rogan, Peter K., and Radice, Paolo

Abstract

Numerous genetic factors that influence breast cancer risk are known. However, approximately two-thirds of the overall familial risk remain unexplained. To determine whether some of the missing heritability is due to rare variants conferring high to moderate risk, we tested for an association between the c.5791C>T nonsense mutation (p.Arg1931*; rs144567652) in exon 22 of FANCM gene and breast cancer. An analysis of genotyping data from 8635 familial breast cancer cases and 6625 controls from different countries yielded an association between the c.5791C>T mutation and breast cancer risk [ odds ratio (OR) = 3.93 (95% confidence interval (CI) = 1.28-12.11; P = 0.017)]. Moreover, we performed two meta-analyses of studies from countries with carriers in both cases and controls and of all available data. These analyses showed breast cancer associations with OR = 3.67 (95% CI = 1.04-12.87; P = 0.043) and OR = 3.33 (95% CI = 1.09-13.62; P = 0.032), respectively. Based on information theory-based prediction, we established that the mutation caused an out-of-frame deletion of exon 22, due to the creation of a binding site for the pre-mRNA processing protein hnRNP A1. Furthermore, genetic complementation analyses showed that the mutation influenced the DNA repair activity of the FANCM protein. In summary, we provide evidence for the first time showing that the common p.Arg1931* loss-of-function variant in FANCM is a risk factor for familial breast cancer.

Published
2015

11. Common breast cancer susceptibility alleles and the risk of breast cancer for BRCA1 and BRCA2 mutation carriers : implications for risk prediction

Author

Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I, Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E J, Blok, Marinus J, Aalfs, Cora M, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J, Porteous, Mary E, Walker, Lisa, Kennedy, M John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V O, Jønson, Lars, Agnarsson, Bjarni A, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, Easton, Douglas F, Antoniou, Antonis C., Beesley, Jonathan, McGuffog, Lesley, Sinilnikova, Olga M., Healey, Sue, Neuhausen, Susan L., Ding, Yuan Chun, Rebbeck, Timothy R., Weitzel, Jeffrey N., Lynch, Henry T., Isaacs, Claudine, Ganz, Patricia A., Tomlinson, Gail, Olopade, Olufunmilayo I, Couch, Fergus J., Wang, Xianshu, Lindor, Noralane M., Pankratz, Vernon S, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Zaffaroni, Daniela, Barile, Monica, Viel, Alessandra, Allavena, Anna, Dall'Olio, Valentina, Peterlongo, Paolo, Szabo, Csilla I, Zikan, Michal, Claes, Kathleen, Poppe, Bruce, Foretova, Lenka, Mai, Phuong L., Greene, Mark H., Rennert, Gad, Lejbkowicz, Flavio, Glendon, Gord, Ozcelik, Hilmi, Andrulis, Irene L., Thomassen, Mads, Gerdes, Anne-Marie, Sunde, Lone, Cruger, Dorthe, Birk Jensen, Uffe, Caligo, Maria, Friedman, Eitan, Kaufman, Bella, Laitman, Yael, Milgrom, Roni, Dubrovsky, Maya, Cohen, Shimrit, Borg, Ake, Jernström, Helena, Lindblom, Annika, Rantala, Johanna, Stenmark-Askmalm, Marie, Melin, Beatrice, Nathanson, Kate, Domchek, Susan, Jakubowska, Ania, Lubinski, Jan, Huzarski, Tomasz, Osorio, Ana, Lasa, Adriana, Durán, Mercedes, Tejada, Maria-Isabel, Godino, Javier, Benitez, Javier, Hamann, Ute, Kriege, Mieke, Hoogerbrugge, Nicoline, van der Luijt, Rob B, van Asperen, Christi J, Devilee, Peter, Meijers-Heijboer, E J, Blok, Marinus J, Aalfs, Cora M, Hogervorst, Frans, Rookus, Matti, Cook, Margaret, Oliver, Clare, Frost, Debra, Conroy, Don, Evans, D Gareth, Lalloo, Fiona, Pichert, Gabriella, Davidson, Rosemarie, Cole, Trevor, Cook, Jackie, Paterson, Joan, Hodgson, Shirley, Morrison, Patrick J, Porteous, Mary E, Walker, Lisa, Kennedy, M John, Dorkins, Huw, Peock, Susan, Godwin, Andrew K, Stoppa-Lyonnet, Dominique, de Pauw, Antoine, Mazoyer, Sylvie, Bonadona, Valérie, Lasset, Christine, Dreyfus, Hélène, Leroux, Dominique, Hardouin, Agnès, Berthet, Pascaline, Faivre, Laurence, Loustalot, Catherine, Noguchi, Tetsuro, Sobol, Hagay, Rouleau, Etienne, Nogues, Catherine, Frénay, Marc, Vénat-Bouvet, Laurence, Hopper, John L, Daly, Mary B, Terry, Mary B, John, Esther M, Buys, Saundra S, Yassin, Yosuf, Miron, Alexander, Goldgar, David, Singer, Christian F, Dressler, Anne Catharina, Gschwantler-Kaulich, Daphne, Pfeiler, Georg, Hansen, Thomas V O, Jønson, Lars, Agnarsson, Bjarni A, Kirchhoff, Tomas, Offit, Kenneth, Devlin, Vincent, Dutra-Clarke, Ana, Piedmonte, Marion, Rodriguez, Gustavo C, Wakeley, Katie, Boggess, John F, Basil, Jack, Schwartz, Peter E, Blank, Stephanie V, Toland, Amanda Ewart, Montagna, Marco, Casella, Cinzia, Imyanitov, Evgeny, Tihomirova, Laima, Blanco, Ignacio, Lazaro, Conxi, Ramus, Susan J, Sucheston, Lara, Karlan, Beth Y, Gross, Jenny, Schmutzler, Rita, Wappenschmidt, Barbara, Engel, Christoph, Meindl, Alfons, Lochmann, Magdalena, Arnold, Norbert, Heidemann, Simone, Varon-Mateeva, Raymonda, Niederacher, Dieter, Sutter, Christian, Deissler, Helmut, Gadzicki, Dorothea, Preisler-Adams, Sabine, Kast, Karin, Schönbuchner, Ines, Caldes, Trinidad, de la Hoya, Miguel, Aittomäki, Kristiina, Nevanlinna, Heli, Simard, Jacques, Spurdle, Amanda B, Holland, Helene, Chen, Xiaoqing, Platte, Radka, Chenevix-Trench, Georgia, and Easton, Douglas F

Abstract

The known breast cancer susceptibility polymorphisms in FGFR2, TNRC9/TOX3, MAP3K1, LSP1, and 2q35 confer increased risks of breast cancer for BRCA1 or BRCA2 mutation carriers. We evaluated the associations of 3 additional single nucleotide polymorphisms (SNPs), rs4973768 in SLC4A7/NEK10, rs6504950 in STXBP4/COX11, and rs10941679 at 5p12, and reanalyzed the previous associations using additional carriers in a sample of 12,525 BRCA1 and 7,409 BRCA2 carriers. Additionally, we investigated potential interactions between SNPs and assessed the implications for risk prediction. The minor alleles of rs4973768 and rs10941679 were associated with increased breast cancer risk for BRCA2 carriers (per-allele HR = 1.10, 95% CI: 1.03-1.18, P = 0.006 and HR = 1.09, 95% CI: 1.01-1.19, P = 0.03, respectively). Neither SNP was associated with breast cancer risk for BRCA1 carriers, and rs6504950 was not associated with breast cancer for either BRCA1 or BRCA2 carriers. Of the 9 polymorphisms investigated, 7 were associated with breast cancer for BRCA2 carriers (FGFR2, TOX3, MAP3K1, LSP1, 2q35, SLC4A7, 5p12, P = 7 × 10(-11) - 0.03), but only TOX3 and 2q35 were associated with the risk for BRCA1 carriers (P = 0.0049, 0.03, respectively). All risk-associated polymorphisms appear to interact multiplicatively on breast cancer risk for mutation carriers. Based on the joint genotype distribution of the 7 risk-associated SNPs in BRCA2 mutation carriers, the 5% of BRCA2 carriers at highest risk (i.e., between 95th and 100th percentiles) were predicted to have a probability between 80% and 96% of developing breast cancer by age 80, compared with 42% to 50% for the 5% of carriers at lowest risk. Our findings indicated that these risk differences might be sufficient to influence the clinical management of mutation carriers., SWE-BRCA collaborators: Hans Ehrencrona, Richard Rosenquist Brandell and Niklas Dahl, Institutionen för genetik och patologi, Department of Genetics and Pathology, Uppsala University Hospital

Published
2010
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12. Oxidative stress activates a specific p53 transcriptional response that regulates cellular senescence and aging

Author

Gambino, Valentina, primary, De Michele, Giulia, additional, Venezia, Oriella, additional, Migliaccio, Pierluigi, additional, Dall'Olio, Valentina, additional, Bernard, Loris, additional, Minardi, Simone Paolo, additional, Fazia, Maria Agnese Della, additional, Bartoli, Daniela, additional, Servillo, Giuseppe, additional, Alcalay, Myriam, additional, Luzi, Lucilla, additional, Giorgio, Marco, additional, Scrable, Heidi, additional, Pelicci, Pier Giuseppe, additional, and Migliaccio, Enrica, additional

Published
2013
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13. An autoinflammatory neurological disease due to interleukin 6 hypersecretion

Author

Salsano, Ettore, primary, Rizzo, Ambra, additional, Bedini, Gloria, additional, Bernard, Loris, additional, Dall’Olio, Valentina, additional, Volorio, Sara, additional, Lazzaroni, Monica, additional, Ceccherini, Isabella, additional, Lazarevic, Dejan, additional, Cittaro, Davide, additional, Stupka, Elia, additional, Paterra, Rosina, additional, Farina, Laura, additional, Savoiardo, Mario, additional, Pareyson, Davide, additional, and Sciacca, Francesca L, additional

Published
2013
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15. Common Breast Cancer Susceptibility Alleles and the Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers: Implications for Risk Prediction

Author

Antoniou, Antonis C., primary, Beesley, Jonathan, additional, McGuffog, Lesley, additional, Sinilnikova, Olga M., additional, Healey, Sue, additional, Neuhausen, Susan L., additional, Ding, Yuan Chun, additional, Rebbeck, Timothy R., additional, Weitzel, Jeffrey N., additional, Lynch, Henry T., additional, Isaacs, Claudine, additional, Ganz, Patricia A., additional, Tomlinson, Gail, additional, Olopade, Olufunmilayo I., additional, Couch, Fergus J., additional, Wang, Xianshu, additional, Lindor, Noralane M., additional, Pankratz, Vernon S., additional, Radice, Paolo, additional, Manoukian, Siranoush, additional, Peissel, Bernard, additional, Zaffaroni, Daniela, additional, Barile, Monica, additional, Viel, Alessandra, additional, Allavena, Anna, additional, Dall'Olio, Valentina, additional, Peterlongo, Paolo, additional, Szabo, Csilla I., additional, Zikan, Michal, additional, Claes, Kathleen, additional, Poppe, Bruce, additional, Foretova, Lenka, additional, Mai, Phuong L., additional, Greene, Mark H., additional, Rennert, Gad, additional, Lejbkowicz, Flavio, additional, Glendon, Gord, additional, Ozcelik, Hilmi, additional, Andrulis, Irene L., additional, Thomassen, Mads, additional, Gerdes, Anne-Marie, additional, Sunde, Lone, additional, Cruger, Dorthe, additional, Birk Jensen, Uffe, additional, Caligo, Maria, additional, Friedman, Eitan, additional, Kaufman, Bella, additional, Laitman, Yael, additional, Milgrom, Roni, additional, Dubrovsky, Maya, additional, Cohen, Shimrit, additional, Borg, Ake, additional, Jernström, Helena, additional, Lindblom, Annika, additional, Rantala, Johanna, additional, Stenmark-Askmalm, Marie, additional, Melin, Beatrice, additional, Nathanson, Kate, additional, Domchek, Susan, additional, Jakubowska, Ania, additional, Lubinski, Jan, additional, Huzarski, Tomasz, additional, Osorio, Ana, additional, Lasa, Adriana, additional, Durán, Mercedes, additional, Tejada, Maria-Isabel, additional, Godino, Javier, additional, Benitez, Javier, additional, Hamann, Ute, additional, Kriege, Mieke, additional, Hoogerbrugge, Nicoline, additional, van der Luijt, Rob B., additional, Asperen, Christi J. van, additional, Devilee, Peter, additional, Meijers-Heijboer, E.J., additional, Blok, Marinus J., additional, Aalfs, Cora M., additional, Hogervorst, Frans, additional, Rookus, Matti, additional, Cook, Margaret, additional, Oliver, Clare, additional, Frost, Debra, additional, Conroy, Don, additional, Evans, D. Gareth, additional, Lalloo, Fiona, additional, Pichert, Gabriella, additional, Davidson, Rosemarie, additional, Cole, Trevor, additional, Cook, Jackie, additional, Paterson, Joan, additional, Hodgson, Shirley, additional, Morrison, Patrick J., additional, Porteous, Mary E., additional, Walker, Lisa, additional, Kennedy, M. John, additional, Dorkins, Huw, additional, Peock, Susan, additional, Godwin, Andrew K., additional, Stoppa-Lyonnet, Dominique, additional, de Pauw, Antoine, additional, Mazoyer, Sylvie, additional, Bonadona, Valérie, additional, Lasset, Christine, additional, Dreyfus, Hélène, additional, Leroux, Dominique, additional, Hardouin, Agnès, additional, Berthet, Pascaline, additional, Faivre, Laurence, additional, Loustalot, Catherine, additional, Noguchi, Tetsuro, additional, Sobol, Hagay, additional, Rouleau, Etienne, additional, Nogues, Catherine, additional, Frénay, Marc, additional, Vénat-Bouvet, Laurence, additional, Hopper, John L., additional, Daly, Mary B., additional, Terry, Mary B., additional, John, Esther M., additional, Buys, Saundra S., additional, Yassin, Yosuf, additional, Miron, Alexander, additional, Goldgar, David, additional, Singer, Christian F., additional, Dressler, Anne Catharina, additional, Gschwantler-Kaulich, Daphne, additional, Pfeiler, Georg, additional, Hansen, Thomas V.O., additional, Jønson, Lars, additional, Agnarsson, Bjarni A., additional, Kirchhoff, Tomas, additional, Offit, Kenneth, additional, Devlin, Vincent, additional, Dutra-Clarke, Ana, additional, Piedmonte, Marion, additional, Rodriguez, Gustavo C., additional, Wakeley, Katie, additional, Boggess, John F., additional, Basil, Jack, additional, Schwartz, Peter E., additional, Blank, Stephanie V., additional, Toland, Amanda Ewart, additional, Montagna, Marco, additional, Casella, Cinzia, additional, Imyanitov, Evgeny, additional, Tihomirova, Laima, additional, Blanco, Ignacio, additional, Lazaro, Conxi, additional, Ramus, Susan J., additional, Sucheston, Lara, additional, Karlan, Beth Y., additional, Gross, Jenny, additional, Schmutzler, Rita, additional, Wappenschmidt, Barbara, additional, Engel, Christoph, additional, Meindl, Alfons, additional, Lochmann, Magdalena, additional, Arnold, Norbert, additional, Heidemann, Simone, additional, Varon-Mateeva, Raymonda, additional, Niederacher, Dieter, additional, Sutter, Christian, additional, Deissler, Helmut, additional, Gadzicki, Dorothea, additional, Preisler-Adams, Sabine, additional, Kast, Karin, additional, Schönbuchner, Ines, additional, Caldes, Trinidad, additional, de la Hoya, Miguel, additional, Aittomäki, Kristiina, additional, Nevanlinna, Heli, additional, Simard, Jacques, additional, Spurdle, Amanda B., additional, Holland, Helene, additional, Chen, Xiaoqing, additional, Platte, Radka, additional, Chenevix-Trench, Georgia, additional, and Easton, Douglas F., additional

Published
2010
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16. FANCM c.5791C>T nonsense mutation (rs144567652) induces exon skipping, affects DNA repair activity and is a familial breast cancer risk factor.

Author

Peterlongo, Paolo, Catucci, Irene, Colombo, Mara, Caleca, Laura, Mucaki, Eliseos, Bogliolo, Massimo, Marin, Maria, Damiola, Francesca, Bernard, Loris, Pensotti, Valeria, Volorio, Sara, Dall'Olio, Valentina, Meindl, Alfons, Bartram, Claus, Sutter, Christian, Surowy, Harald, Sornin, Valérie, Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, and Stoppa-Lyonnet, Dominique

Published
2015
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17. Myc-binding-site recognition in the human genome is determined by chromatin context.

Author

Guccione, Ernesto, Martinato, Francesca, Finocchiaro, Giacomo, Luzi, Lucilla, Tizzoni, Laura, Dall'Olio, Valentina, Zardo, Giuseppe, Nervi, Clara, Bernard, Loris, and Amati, Bruno

Subjects
CHROMATIN, HUMAN genome, EUKARYOTIC cells, TRANSCRIPTION factors, DNA-binding proteins, HISTONES
Abstract

Large-scale chromatin immunoprecipitation (ChIP) studies have been effective in unravelling the distribution of DNA-binding transcription factors along eukaryotic genomes, but specificity determinants remain elusive. Gene-regulatory regions display distinct histone variants and modifications (or marks). An attractive hypothesis is that these marks modulate protein recognition, but whether or not this applies to transcription factors remains unknown. Based on large-scale datasets and quantitative ChIP, we dissect the correlations between 35 histone marks and genomic binding by the transcription factor Myc. Our data reveal a relatively simple combinatorial organization of histone marks in human cells, with a few main groups of marks clustering on distinct promoter populations. A stretch of chromatin bearing high H3 K4/K79 methylation and H3 acetylation (or 'euchromatic island'), which is generally associated with a pre-engaged basal transcription machinery, is a strict pre-requisite for recognition of any target site by Myc (whether the consensus CACGTG or an alternative sequence). These data imply that tethering of a transcription factor to restricted chromatin domains is rate-limiting for sequence-specific DNA binding in vivo. [ABSTRACT FROM AUTHOR]

Published
2006
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18. The rs12975333 variant in the miR-125a and breast cancer risk in Germany, Italy, Australia and Spain.

Author

Peterlongo, Paolo, Caleca, Laura, Cattaneo, Elisa, Ravagnani, Fernando, Bianchi, Tiziana, Galastri, Laura, Bernard, Loris, Ficarazzi, Filomena, Dall'olio, Valentina, Marme, Frederik, Langheinz, Anne, Sohn, Christoph, Burwinkel, Barbara, Giles, Graham G., Baglietto, Laura, Severi, Gianluca, Odefrey, Fabrice A., Southey, Melissa C., Osorio, Ana, and Fernández, Fernando

Subjects
HEMOGLOBIN polymorphisms, BREAST cancer, MESSENGER RNA, DISEASE susceptibility, GENETIC markers
Abstract

The article discusses a study which examined the association between the rs12975333 variant in the miR-125a and breast cancer risk using case control series from Germany Australia, Spain, and Italy. The study showed that rs12975333, together with many other variants located in miRNAs, has been investigated as a possible contributor to genetic susceptibility to various diseases. Further, it revealed that rs12975333 is extremely rare in breast cancer cases and controls from the said countries.

Published
2011
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19. Plasma miRNA-based signatures in CRC screening programs.

Author

Zanutto S, Ciniselli CM, Belfiore A, Lecchi M, Masci E, Delconte G, Primignani M, Tosetti G, Dal Fante M, Fazzini L, Airoldi A, Vangeli M, Turpini F, Rubis Passoni GG, Viaggi P, Arena M, Motta RIO, Cantù AM, Crosta C, De Roberto G, Iannuzzi F, Cassinotti A, Dall'Olio V, Tizzoni L, Sozzi G, Meroni E, Bisanti L, Pierotti MA, Verderio P, and Gariboldi M

Subjects
Aged, Colorectal Neoplasms blood, Early Detection of Cancer, Female, Humans, Male, MicroRNAs genetics, Middle Aged, Colorectal Neoplasms genetics, MicroRNAs blood
Abstract

Colorectal cancer (CRC) screening programs help diagnose cancer precursors and early cancers and help reduce CRC mortality. However, currently recommended tests, the fecal immunochemical test (FIT) and colonoscopy, have low uptake. There is therefore a pressing need for screening strategies that are minimally invasive and consequently more acceptable to patients, most likely blood based, to increase early CRC identification. MicroRNAs (miRNAs) released from cancer cells are detectable in plasma in a remarkably stable form, making them ideal cancer biomarkers. Using plasma samples from FIT-positive (FIT+) subjects in an Italian CRC screening program, we aimed to identify plasma circulating miRNAs that detect early CRC. miRNAs were initially investigated by quantitative real-time PCR in plasma from 60 FIT+ subjects undergoing colonoscopy at Fondazione IRCCS Istituto Nazionale dei Tumori, then tested on an internal validation cohort (IVC, 201 cases) and finally in a large multicenter prospective series (external validation cohort [EVC], 1121 cases). For each endoscopic lesion (low-grade adenoma [LgA], high-grade adenoma [HgA], cancer lesion [CL]), specific signatures were identified in the IVC and confirmed on the EVC. A two-miRNA-based signature for CL and six-miRNA signatures for LgA and HgA were selected. In a multivariate analysis including sex and age at blood collection, the areas under the receiver operating characteristic curve (95% confidence interval) of the signatures were 0.644 (0.607-0.682), 0.670 (0.626-0.714) and 0.682 (0.580-0.785) for LgA, HgA and CL, respectively. A miRNA-based test could be introduced into the FIT+ workflow of CRC screening programs so as to schedule colonoscopies only for subjects likely to benefit most., (© 2019 UICC.)

Published
2020
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