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1. Male breast cancer risk associated with pathogenic variants in genes other than BRCA1/2: an Italian case-control study

Author

Bucalo, Agostino, Conti, Giulia, Valentini, Virginia, Capalbo, Carlo, Bruselles, Alessandro, Tartaglia, Marco, Bonanni, Bernardo, Calistri, Daniele, Coppa, Anna, Cortesi, Laura, Giannini, Giuseppe, Gismondi, Viviana, Manoukian, Siranoush, Manzella, Livia, Montagna, Marco, Peterlongo, Paolo, Radice, Paolo, Russo, Antonio, Tibiletti, Maria Grazia, Turchetti, Daniela, Viel, Alessandra, Zanna, Ines, Palli, Domenico, Silvestri, Valentina, and Ottini, Laura

Published
2023
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2. Expression Analysis of Circulating microRNAs in Saliva and Plasma for the Identification of Clinically Relevant Biomarkers for Oral Squamous Cell Carcinoma and Oral Potentially Malignant Disorders.

Author

Rocchetti, Federica, Tenore, Gianluca, Macali, Federica, Vicidomini, Teresa, Podda, Gian Marco, Fantozzi, Paolo Junior, Silvestri, Valentina, Porzio, Virginia, Valentini, Virginia, Ottini, Laura, Richetta, Antonio Giovanni, Valentini, Valentino, Della Monaca, Marco, Grenga, Camilla, Polimeni, Antonella, and Romeo, Umberto

Subjects
HEAD & neck cancer diagnosis, SALIVA analysis, SQUAMOUS cell carcinoma, MOUTH tumors, ACADEMIC medical centers, MICRORNA, BODY fluid examination, TUMOR markers, REVERSE transcriptase polymerase chain reaction, DESCRIPTIVE statistics, GENE expression, LONGITUDINAL method, ONE-way analysis of variance, DATA analysis software
Abstract

Simple Summary: In recent years, liquid biopsy has been introduced as a new method for the detection and management of cancer, but the studies on oral squamous cell carcinoma (OSCC) are lacking conclusive evidence. The aim of this study was to evaluate the expression of six circulating salivary and plasmatic miRNAs (-21, -31, -138, -145, -184, and -424) as diagnostic biomarkers in patients affected by OSCC and by oral potentially malignant disorders (OPMDs). Our results showed that liquid biopsy from saliva may be a useful tool for the identification of these biomarkers; in particular, miR-138 and miR-424 showed decreased expression levels in saliva samples in OSCC and OPMD patients compared to healthy controls. The introduction of liquid biopsy in daily clinical practice could revolutionize the approach to oral lesions by allowing the mass screening, stratification and monitoring of patients at risk, the monitoring of the response to treatment and the early identification of any recurrences. This study aims to evaluate the expression of salivary and plasmatic miRNAs as diagnostic biomarkers in patients with oral squamous cell carcinoma (OSCC) and oral potentially malignant disorders (OPMDs). A total of 25 patients were divided into three groups, according to their diagnosis: OSCC patients (n = 14); OPMDs patients (n = 6); and healthy controls (n = 5). At the time at diagnosis/enrolment, patients underwent salivary and plasmatic collection. The expression of miRNA -21, -31, -138, -145, -184, and -424 were evaluated by real-time PCR. An F-test and ANOVA test were performed to evaluate the miRNA levels (significance at p < 0.05). By comparing miRNA expression levels from saliva, a statistically significant difference emerged in the expression of miR-138 and miR-424 between the three groups (p < 0.05). In particular, these two miRNAs showed decreased expression levels in saliva samples from OSCC and OPMD patients compared to those from healthy controls. On the other hand, miRNA expression levels in plasma were low in all the groups, and no statistically significant differences were found. Overall, our results showed that liquid biopsy from saliva may be a useful tool for the identification of diagnostic molecular biomarkers in OSCC and OPMDs. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Targeting SMYD3 to Sensitize Homologous Recombination-Proficient Tumors to PARP-Mediated Synthetic Lethality

Author

Sanese, Paola, Fasano, Candida, Buscemi, Giacomo, Bottino, Cinzia, Corbetta, Silvia, Fabini, Edoardo, Silvestri, Valentina, Valentini, Virginia, Disciglio, Vittoria, Forte, Giovanna, Lepore Signorile, Martina, De Marco, Katia, Bertora, Stefania, Grossi, Valentina, Guven, Ummu, Porta, Natale, Di Maio, Valeria, Manoni, Elisabetta, Giannelli, Gianluigi, Bartolini, Manuela, Del Rio, Alberto, Caretti, Giuseppina, Ottini, Laura, and Simone, Cristiano

Published
2020
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7. A possible role of FANCM mutations in male breast cancer susceptibility: Results from a multicenter study in Italy

Author

Silvestri, Valentina, Rizzolo, Piera, Zelli, Veronica, Valentini, Virginia, Zanna, Ines, Bianchi, Simonetta, Tibiletti, Maria Grazia, Varesco, Liliana, Russo, Antonio, Tommasi, Stefania, Coppa, Anna, Capalbo, Carlo, Calistri, Daniele, Viel, Alessandra, Cortesi, Laura, Manoukian, Siranoush, Bonanni, Bernardo, Montagna, Marco, Palli, Domenico, Radice, Paolo, Peterlongo, Paolo, and Ottini, Laura

Published
2018
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8. Molecular profiling of male breast cancer by multigene panel testing: Implications for precision oncology

Author

Valentini, Virginia, primary, Silvestri, Valentina, additional, Bucalo, Agostino, additional, Conti, Giulia, additional, Karimi, Mina, additional, Di Francesco, Linda, additional, Pomati, Giulia, additional, Mezi, Silvia, additional, Cerbelli, Bruna, additional, Pignataro, Maria Gemma, additional, Nicolussi, Arianna, additional, Coppa, Anna, additional, D’Amati, Giulia, additional, Giannini, Giuseppe, additional, and Ottini, Laura, additional

Published
2023
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9. Male Breast Cancer Risk Associated with Pathogenic Variants in Genes Other than BRCA1/2: An Italian Case-Control Study

Author

Bucalo, Agostino, primary, Conti, Giulia, additional, Valentini, Virginia, additional, capalbo, carlo, additional, Bruselles, Alessandro, additional, Tartaglia, Marco, additional, Bonanni, Bernardo, additional, Calistri, Daniele, additional, Coppa, Anna, additional, Cortesi, Laura, additional, Giannini, Giuseppe, additional, Gismondi, Viviana, additional, Manoukian, Siranoush, additional, Manzella, Livia, additional, Montagna, Marco, additional, Peterlongo, Paolo, additional, Radice, Paolo, additional, Russo, Antonio, additional, Tibiletti, Maria Grazia, additional, Turchetti, Daniela, additional, Viel, Alessandra, additional, Zanna, Ines, additional, Palli, Domenico, additional, Silvestri, Valentina, additional, and OTTINI, LAURA, additional

Published
2023
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10. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Author

Barnes, Daniel R, Silvestri, Valentina, Leslie, Goska, McGuffog, Lesley, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Brady, Angela F, Brennan, Paul, Brewer, Carole, Brunet, Joan, Bucalo, Agostino, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Cini, Giulia, Claes, Kathleen BM, GEMO Study Collaborators, EMBRACE Collaborators, Cook, Jackie, Coppa, Anna, Cortesi, Laura, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesús, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Feliubadaló, Lidia, Fostira, Florentia, Frone, Megan, Frost, Debra, Gallagher, David, Gehrig, Andrea, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gregory, Helen, Gross, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas VO, Hanson, Helen, Hentschel, Julia, Horvath, Judit, KConFab Investigators, HEBON Investigators, Izatt, Louise, Izquierdo, Angel, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, Johannsson, Oskar Th, John, Esther M, Kramer, Gero, Kroeldrup, Lone, Kruse, Torben A, Lautrup, Charlotte, Lazaro, Conxi, Lesueur, Fabienne, Lopez-Fernández, Adria, Mai, Phuong L, Manoukian, Siranoush, Matrai, Zoltan, Matricardi, Laura, Maxwell, Kara N, Mebirouk, Noura, Meindl, Alfons, Montagna, Marco, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A, Murray, Alex, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nguyen-Dumont, Tu, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Palli, Domenico, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth H, Pinto, Pedro, Porteous, Mary E, Pottinger, Caroline, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T, Rønlund, Karina, Rump, Andreas, Sánchez de Abajo, Ana María, Shah, Payal D, Sharif, Saba, Side, Lucy E, Singer, Christian F, Stadler, Zsofia, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tommasi, Stefania, Toss, Angela, Trainer, Alison H, Tripathi, Vishakha, Valentini, Virginia, van Asperen, Christi J, Venturelli, Marta, Viel, Alessandra, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Whaite, Anna, Zanna, Ines, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J, Schmutzler, Rita K, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Antoniou, Antonis C, Ottini, Laura, Consortium of Investigators of Modifiers of BRCA1 and BRCA2, Barnes, Daniel R [0000-0002-3781-7570], Silvestri, Valentina [0000-0003-0712-9379], Leslie, Goska [0000-0001-5756-6222], Dennis, Joe [0000-0003-4591-1214], Yang, Xin [0000-0003-0037-3790], Adlard, Julian [0000-0002-1693-0435], Agnarsson, Bjarni A [0000-0001-7721-9965], Andrulis, Irene L [0000-0002-4226-6435], Arason, Adalgeir [0000-0003-0480-886X], Arnold, Norbert [0000-0003-4523-8808], Auber, Bernd [0000-0003-1880-291X], Azzollini, Jacopo [0000-0002-9364-9778], Barkardottir, Rosa B [0000-0003-0629-2772], Barrowdale, Daniel [0000-0003-1661-3939], Benitez, Javier [0000-0002-0923-7202], Boonen, Susanne E [0000-0002-7824-2080], Bozsik, Aniko [0000-0001-5410-9173], Brennan, Paul [0000-0003-1128-6254], Brunet, Joan [0000-0003-1945-3512], Bucalo, Agostino [0000-0003-3475-1067], Caligo, Maria A [0000-0003-0589-1829], Campbell, Ian [0000-0002-7773-4155], Cassingham, Hayley [0000-0001-9922-2321], Cini, Giulia [0000-0002-8696-8922], Claes, Kathleen BM [0000-0003-0841-7372], Coppa, Anna [0000-0001-9758-5444], Cortesi, Laura [0000-0001-8950-8561], Darder, Esther [0000-0002-7764-1397], de la Hoya, Miguel [0000-0002-8113-1410], de Putter, Robin [0000-0001-9410-8941], Del Valle, Jesús [0000-0003-3607-7045], Domchek, Susan M [0000-0002-5914-7272], Donaldson, Alan [0000-0001-9193-4172], Eason, Jacqueline [0000-0002-8711-8671], Engel, Christoph [0000-0002-7247-282X], Fostira, Florentia [0000-0003-2751-2332], Frone, Megan [0000-0001-8273-8866], Glendon, Gord [0000-0001-8630-6673], Godwin, Andrew K [0000-0002-3987-9580], Greene, Mark H [0000-0003-1852-9239], Hahnen, Eric [0000-0003-2448-7872], Hanson, Helen [0000-0002-3303-8713], Izatt, Louise [0000-0003-1258-4843], Izquierdo, Angel [0000-0003-2004-3246], James, Paul A [0000-0002-4361-4657], John, Esther M [0000-0003-3259-8003], Kroeldrup, Lone [0000-0003-3623-6536], Kruse, Torben A [0000-0002-2460-6483], Lazaro, Conxi [0000-0002-7198-5906], Lesueur, Fabienne [0000-0001-7404-4549], Matrai, Zoltan [0000-0001-8160-7100], Montagna, Marco [0000-0002-4929-2150], Monteiro, Alvaro N [0000-0002-8448-4801], Morrison, Patrick J [0000-0002-2823-1762], Muranen, Taru A [0000-0002-5895-1808], Nathanson, Katherine L [0000-0002-6740-0901], Neuhausen, Susan L [0000-0001-5053-0390], Nevanlinna, Heli [0000-0002-0916-2976], Nguyen-Dumont, Tu [0000-0002-6217-0182], Niederacher, Dieter [0000-0001-6231-9226], Palli, Domenico [0000-0002-5558-2437], Parsons, Michael T [0000-0003-3242-8477], Perez-Segura, Pedro [0000-0001-5049-7199], Peterlongo, Paolo [0000-0001-6951-6855], Pinto, Pedro [0000-0001-6289-5792], Pottinger, Caroline [0000-0003-4233-882X], Radice, Paolo [0000-0001-6298-4111], Robson, Mark [0000-0002-3109-1692], Rump, Andreas [0000-0001-7116-6364], Sharif, Saba [0000-0002-9564-4890], Steele, Linda [0000-0003-3628-2022], Stoppa-Lyonnet, Dominique [0000-0002-5438-8309], Teixeira, Manuel R [0000-0002-4896-5982], Thull, Darcy L [0000-0001-7999-2804], Tischkowitz, Marc [0000-0002-7880-0628], Toland, Amanda E [0000-0002-0271-1792], Tommasi, Stefania [0000-0002-2157-2978], Toss, Angela [0000-0002-1854-6701], Tripathi, Vishakha [0000-0001-8118-8364], Valentini, Virginia [0000-0003-3393-7185], van Asperen, Christi J [0000-0002-1436-7650], Venturelli, Marta [0000-0003-0658-8004], Viel, Alessandra [0000-0003-2804-0840], Vijai, Joseph [0000-0002-7933-151X], Whaite, Anna [0000-0003-4485-0341], Simard, Jacques [0000-0001-6906-3390], Easton, Douglas F [0000-0003-2444-3247], Chenevix-Trench, Georgia [0000-0002-1878-2587], Ottini, Laura [0000-0001-8030-0449], and Apollo - University of Cambridge Repository

Subjects
Aged, 80 and over, BRCA2 Protein, Male, Heterozygote, BRCA1 Protein, Prostatic Neoplasms, Breast Neoplasms, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factors, Mutation, Humans, Genetic Predisposition to Disease, skin and connective tissue diseases
Abstract

BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers. METHODS: 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk. RESULTS: PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions. CONCLUSIONS: Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.

Published
2022

13. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Author

Barnes, Daniel R., Silvestri, Valentina, Leslie, Goska, McGuffog, Lesley, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berthet, Pascaline, Boonen, Susanne E., Borg, Ake, Bozsik, Aniko, Brady, Angela F., Brennan, Paul, Brewer, Carole, Brunet, Joan, Bucalo, Agostino, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Cini, Giulia, Claes, Kathleen B. M., Cook, Jackie, Coppa, Anna, Cortesi, Laura, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesus, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Feliubadalo, Lidia, Fostira, Florentia, Frone, Megan, Frost, Debra, Gallagher, David, Gehrig, Andrea, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gregory, Helen, Gross, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V. O., Hanson, Helen, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Izquierdo, Angel, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, Johannsson, Oskar Th, John, Esther M., Kramer, Gero, Kroeldrup, Lone, Kruse, Torben A., Lautrup, Charlotte, Lazaro, Conxi, Lesueur, Fabienne, Lopez-Fernandez, Adria, Mai, Phuong L., Manoukian, Siranoush, Matrai, Zoltan, Matricardi, Laura, Maxwell, Kara N., Mebirouk, Noura, Meindl, Alfons, Montagna, Marco, Monteiro, Alvaro N., Morrison, Patrick J., Muranen, Taru A., Murray, Alex, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo, I, Palli, Domenico, Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth H., Pinto, Pedro, Porteous, Mary E., Pottinger, Caroline, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T., Ronlund, Karina, Rump, Andreas, Sanchez de Abajo, Ana Maria, Shah, Payal D., Sharif, Saba, Side, Lucy E., Singer, Christian F., Stadler, Zsofia, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teule, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tommasi, Stefania, Toss, Angela, Trainer, Alison H., Tripathi, Vishakha, Valentini, Virginia, van Asperen, Christi J., Venturelli, Marta, Viel, Alessandra, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Whaite, Anna, Zanna, Ines, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., Ottini, Laura, Barnes, Daniel R., Silvestri, Valentina, Leslie, Goska, McGuffog, Lesley, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A., Ahmed, Munaza, Aittomaki, Kristiina, Andrulis, Irene L., Arason, Adalgeir, Arnold, Norbert, Auber, Bernd, Azzollini, Jacopo, Balmana, Judith, Barkardottir, Rosa B., Barrowdale, Daniel, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berthet, Pascaline, Boonen, Susanne E., Borg, Ake, Bozsik, Aniko, Brady, Angela F., Brennan, Paul, Brewer, Carole, Brunet, Joan, Bucalo, Agostino, Buys, Saundra S., Caldes, Trinidad, Caligo, Maria A., Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Cini, Giulia, Claes, Kathleen B. M., Cook, Jackie, Coppa, Anna, Cortesi, Laura, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, de la Hoya, Miguel, De Leeneer, Kim, de Putter, Robin, Del Valle, Jesus, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Engel, Christoph, Evans, D. Gareth, Feliubadalo, Lidia, Fostira, Florentia, Frone, Megan, Frost, Debra, Gallagher, David, Gehrig, Andrea, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Gregory, Helen, Gross, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas V. O., Hanson, Helen, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Izquierdo, Angel, James, Paul A., Janavicius, Ramunas, Jensen, Uffe Birk, Johannsson, Oskar Th, John, Esther M., Kramer, Gero, Kroeldrup, Lone, Kruse, Torben A., Lautrup, Charlotte, Lazaro, Conxi, Lesueur, Fabienne, Lopez-Fernandez, Adria, Mai, Phuong L., Manoukian, Siranoush, Matrai, Zoltan, Matricardi, Laura, Maxwell, Kara N., Mebirouk, Noura, Meindl, Alfons, Montagna, Marco, Monteiro, Alvaro N., Morrison, Patrick J., Muranen, Taru A., Murray, Alex, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo, I, Palli, Domenico, Parsons, Michael T., Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth H., Pinto, Pedro, Porteous, Mary E., Pottinger, Caroline, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T., Ronlund, Karina, Rump, Andreas, Sanchez de Abajo, Ana Maria, Shah, Payal D., Sharif, Saba, Side, Lucy E., Singer, Christian F., Stadler, Zsofia, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teule, Alex, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Tommasi, Stefania, Toss, Angela, Trainer, Alison H., Tripathi, Vishakha, Valentini, Virginia, van Asperen, Christi J., Venturelli, Marta, Viel, Alessandra, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Whaite, Anna, Zanna, Ines, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J., Schmutzler, Rita K., Simard, Jacques, Easton, Douglas F., Chenevix-Trench, Georgia, Antoniou, Antonis C., and Ottini, Laura

Abstract

Background: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers. Methods: 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk. Results: PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions. Conclusions: Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.

Published
2022

14. Whole‐exome sequencing and targeted gene sequencing provide insights into the role of PALB2 as a male breast cancer susceptibility gene

Author

Silvestri, Valentina, Zelli, Veronica, Valentini, Virginia, Rizzolo, Piera, Navazio, Anna Sara, Coppa, Anna, Agata, Simona, Oliani, Cristina, Barana, Daniela, Castrignanò, Tiziana, Viel, Alessandra, Russo, Antonio, Tibiletti, Maria Grazia, Zanna, Ines, Masala, Giovanna, Cortesi, Laura, Manoukian, Siranoush, Azzollini, Jacopo, Peissel, Bernard, Bonanni, Bernardo, Peterlongo, Paolo, Radice, Paolo, Palli, Domenico, Giannini, Giuseppe, Chillemi, Giovanni, Montagna, Marco, and Ottini, Laura

Published
2017
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15. Evaluation of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk

Author

Rizzolo, Piera, Silvestri, Valentina, Valentini, Virginia, Zelli, Veronica, Bucalo, Agostino, Zanna, Ines, Bianchi, Simonetta, Tibiletti, Maria Grazia, Russo, Antonio, Varesco, Liliana, Tedaldi, Gianluca, Bonanni, Bernardo, Azzollini, Jacopo, Manoukian, Siranoush, Coppa, Anna, Giannini, Giuseppe, Cortesi, Laura, Viel, Alessandra, Montagna, Marco, Peterlongo, Paolo, Radice, Paolo, Palli, Domenico, and Ottini, Laura

Subjects
Oncology, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, PALB2, Disease, male breast cancer, Hyperestrogenism, lcsh:Diseases of the endocrine glands. Clinical endocrinology, 03 medical and health sciences, 0302 clinical medicine, Endocrinology, Breast cancer, Internal medicine, Genotype, CYP17A1, Internal Medicine, Genetic predisposition, Medicine, 030212 general & internal medicine, skin and connective tissue diseases, Estrogen Receptor Status, CYP1B1, polymorphisms, male breast cancer risk, lcsh:RC648-665, business.industry, Research, medicine.disease, 030220 oncology & carcinogenesis, Male breast cancer, medicine.symptom, business
Abstract

Breast cancer in men is a rare and still poorly characterized disease. Inherited mutations in BRCA1, BRCA2 and PALB2 genes, as well as common polymorphisms, play a role in male breast cancer genetic predisposition. Male breast cancer is considered a hormone-dependent tumor specifically related to hyperestrogenism. Polymorphisms in genes involved in estrogen biosynthesis and metabolism pathways, such as CYP17A1 and CYP1B1, have been associated with breast cancer risk. Here, we aimed to investigate the role of CYP17A1 and CYP1B1 polymorphisms in male breast cancer risk. A series of 597 male breast cancer cases and 1022 male controls, recruited within the Italian Multicenter Study on male breast cancer, was genotyped for CYP17A1 rs743572, CYP1B1 rs1056836 and rs1800440 polymorphisms by allelic discrimination real-time PCR with TaqMan probes. Associations with male breast cancer risk were estimated using logistic regression. No statistically significant associations between male breast cancer risk and the three analyzed polymorphisms emerged. Similar results were obtained also when BRCA1/2 mutational status was considered. No significant differences in the distribution of the genotypes according to estrogen receptor status emerged. In conclusion, our study, based on a large series of male breast cancer cases, is likely to exclude a relevant role of CYP17A1 and CYP1B1 polymorphisms in male breast cancer predisposition. Overall, these results add new data to the increasing evidence that polymorphisms in these genes may not be associated with breast cancer risk.

Published
2019

16. DNA methylation‐based biomarkers of aging were slowed down in a two‐year diet and physical activity intervention trial: the DAMA study

Author

Fiorito, Giovanni, primary, Caini, Saverio, additional, Palli, Domenico, additional, Bendinelli, Benedetta, additional, Saieva, Calogero, additional, Ermini, Ilaria, additional, Valentini, Virginia, additional, Assedi, Melania, additional, Rizzolo, Piera, additional, Ambrogetti, Daniela, additional, Ottini, Laura, additional, and Masala, Giovanna, additional

Published
2021
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18. Paradoxical Psoriasis Induced by Anti-TNFα Treatment: Evaluation of Disease-Specific Clinical and Genetic Markers

Author

Bucalo, Agostino, primary, Rega, Federica, additional, Zangrilli, Arianna, additional, Silvestri, Valentina, additional, Valentini, Virginia, additional, Scafetta, Giorgia, additional, Marraffa, Federica, additional, Grassi, Sara, additional, Rogante, Elena, additional, Piccolo, Arianna, additional, Cucchiara, Salvatore, additional, Viola, Franca, additional, Bianchi, Luca, additional, Ottini, Laura, additional, and Richetta, Antonio, additional

Published
2020
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19. Abstract P4-07-05: Matched germline and tumor profiling in male breast cancer for the discovery of molecular subtypes with clinical relevance

Author

Zelli, Veronica, primary, Silvestri, Valentina, additional, Valentini, Virginia, additional, Bucalo, Agostino, additional, Rizzolo, Piera, additional, Zanna, Ines, additional, Cortesi, Laura, additional, Calistri, Daniele, additional, Tibiletti, Maria Grazia, additional, Giannini, Giuseppe, additional, Fox, Stephen B, additional, Palli, Domenico, additional, and Ottini, Laura, additional

Published
2020
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20. Targeting SMYD3 to Sensitize Homologous Recombination-Proficient Tumors to PARP-Mediated Synthetic Lethality

Author

Sanese, Paola, primary, Fasano, Candida, additional, Buscemi, Giacomo, additional, Bottino, Cinzia, additional, Corbetta, Silvia, additional, Fabini, Edoardo, additional, Silvestri, Valentina, additional, Valentini, Virginia, additional, Disciglio, Vittoria, additional, Forte, Giovanna, additional, Lepore Signorile, Martina, additional, De Marco, Katia, additional, Bertora, Stefania, additional, Grossi, Valentina, additional, Porta, Natale, additional, Di Maio, Valeria, additional, Manoni, Elisabetta, additional, Giannelli, Gianluigi, additional, Bartolini, Manuela, additional, Del Rio, Alberto, additional, Caretti, Giuseppina, additional, Ottini, Laura, additional, and Simone, Cristiano, additional

Published
2020
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21. Identification of novel BRCA1 large genomic rearrangements by a computational algorithm of amplicon-based Next-Generation Sequencing data

Author

Nicolussi, Arianna, primary, Belardinilli, Francesca, additional, Silvestri, Valentina, additional, Mahdavian, Yasaman, additional, Valentini, Virginia, additional, D’Inzeo, Sonia, additional, Petroni, Marialaura, additional, Zani, Massimo, additional, Ferraro, Sergio, additional, Di Giulio, Stefano, additional, Fabretti, Francesca, additional, Fratini, Beatrice, additional, Gradilone, Angela, additional, Ottini, Laura, additional, Giannini, Giuseppe, additional, Coppa, Anna, additional, and Capalbo, Carlo, additional

Published
2019
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22. MiRNAs as Potential Prognostic Biomarkers for Metastasis in Thin and Thick Primary Cutaneous Melanomas

Author

VALENTINI, VIRGINIA, primary, ZELLI, VERONICA, additional, GAGGIANO, EMANUELA, additional, SILVESTRI, VALENTINA, additional, RIZZOLO, PIERA, additional, BUCALO, AGOSTINO, additional, CALVIERI, STEFANO, additional, GRASSI, SARA, additional, FRASCIONE, PASQUALE, additional, DONATI, PIETRO, additional, SODA, GIUSEPPE, additional, OTTINI, LAURA, additional, and RICHETTA, ANTONIO GIOVANNI, additional

Published
2019
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23. Next-generation sequencing of BRCA1 and BRCA2 genes for rapid detection of germline mutations in hereditary breast/ovarian cancer

Author

Nicolussi, Arianna, primary, Belardinilli, Francesca, additional, Mahdavian, Yasaman, additional, Colicchia, Valeria, additional, D’Inzeo, Sonia, additional, Petroni, Marialaura, additional, Zani, Massimo, additional, Ferraro, Sergio, additional, Valentini, Virginia, additional, Ottini, Laura, additional, Giannini, Giuseppe, additional, Capalbo, Carlo, additional, and Coppa, Anna, additional

Published
2019
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24. A Simplified Genomic Profiling Approach Predicts Outcome in Metastatic Colorectal Cancer

Author

Capalbo, Carlo, primary, Belardinilli, Francesca, additional, Raimondo, Domenico, additional, Milanetti, Edoardo, additional, Malapelle, Umberto, additional, Pisapia, Pasquale, additional, Magri, Valentina, additional, Prete, Alessandra, additional, Pecorari, Silvia, additional, Colella, Mariarosaria, additional, Coppa, Anna, additional, Bonfiglio, Caterina, additional, Nicolussi, Arianna, additional, Valentini, Virginia, additional, Tessitore, Alessandra, additional, Cardinali, Beatrice, additional, Petroni, Marialaura, additional, Infante, Paola, additional, Santoni, Matteo, additional, Filetti, Marco, additional, Colicchia, Valeria, additional, Paci, Paola, additional, Mezi, Silvia, additional, Longo, Flavia, additional, Cortesi, Enrico, additional, Marchetti, Paolo, additional, Troncone, Giancarlo, additional, Bellavia, Diana, additional, Canettieri, Gianluca, additional, and Giannini, Giuseppe, additional

Published
2019
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25. Insight into genetic susceptibility to male breast cancer by multigene panel testing: Results from a multicenter study in Italy

Author

Rizzolo, Piera, primary, Zelli, Veronica, additional, Silvestri, Valentina, additional, Valentini, Virginia, additional, Zanna, Ines, additional, Bianchi, Simonetta, additional, Masala, Giovanna, additional, Spinelli, Alessandro Mauro, additional, Tibiletti, Maria Grazia, additional, Russo, Antonio, additional, Varesco, Liliana, additional, Giannini, Giuseppe, additional, Capalbo, Carlo, additional, Calistri, Daniele, additional, Cortesi, Laura, additional, Viel, Alessandra, additional, Bonanni, Bernardo, additional, Azzollini, Jacopo, additional, Manoukian, Siranoush, additional, Montagna, Marco, additional, Peterlongo, Paolo, additional, Radice, Paolo, additional, Palli, Domenico, additional, and Ottini, Laura, additional

Published
2019
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26. Prediction of Breast and Prostate Cancer Risks in Male BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores

Author

Lecarpentier, Julie, Silvestri, Valentina, Kuchenbaecker, Karoline B, Barrowdale, Daniel, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska, Rizzolo, Piera, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Amin Al Olama, Ali, Tyrer, Jonathan P, Southey, Melissa, John, Esther M, Conner, Thomas A, Goldgar, David E, Buys, Saundra, Janavicius, Ramunas, Steele, Linda, Ding, Yuan Chun, Neuhausen, Susan L, Hansen, Thomas V O, Osorio, Ana, Weitzel, Jeffrey N, Toss, Angela, Medici, Veronica, Cortesi, Laura, Zanna, Ines, Palli, Domenico, Radice, Paolo, Manoukian, Siranoush, Peissel, Bernard, Azzollini, Jacopo, Viel, Alessandra, Cini, Giulia, Damante, Giuseppe, Tommasi, Stefania, Peterlongo, Paolo, Fostira, Florentia, Hamann, Ute, Evans, D Gareth, Bojesen, Anders, Nielsen, Henriette Roed, Skytte, Anne-Bine, Krogh, Lotte, Kruse, Torben A, and Thomassen, Mads

Subjects
OVERDIAGNOSIS, SUSCEPTIBILITY LOCI, IDENTIFICATION, GENETIC-VARIANTS, Journal Article, GENOME-WIDE ASSOCIATION, FUNCTIONAL VARIANTS, skin and connective tissue diseases
Abstract

Purpose BRCA1/2 mutations increase the risk of breast and prostate cancer in men. Common genetic variants modify cancer risks for female carriers of BRCA1/2 mutations. We investigated-for the first time to our knowledge-associations of common genetic variants with breast and prostate cancer risks for male carriers of BRCA1/ 2 mutations and implications for cancer risk prediction. Materials and Methods We genotyped 1,802 male carriers of BRCA1/2 mutations from the Consortium of Investigators of Modifiers of BRCA1/2 by using the custom Illumina OncoArray. We investigated the combined effects of established breast and prostate cancer susceptibility variants on cancer risks for male carriers of BRCA1/2 mutations by constructing weighted polygenic risk scores (PRSs) using published effect estimates as weights. Results In male carriers of BRCA1/2 mutations, PRS that was based on 88 female breast cancer susceptibility variants was associated with breast cancer risk (odds ratio per standard deviation of PRS, 1.36; 95% CI, 1.19 to 1.56; P = 8.6 × 10(-6)). Similarly, PRS that was based on 103 prostate cancer susceptibility variants was associated with prostate cancer risk (odds ratio per SD of PRS, 1.56; 95% CI, 1.35 to 1.81; P = 3.2 × 10(-9)). Large differences in absolute cancer risks were observed at the extremes of the PRS distribution. For example, prostate cancer risk by age 80 years at the 5th and 95th percentiles of the PRS varies from 7% to 26% for carriers of BRCA1 mutations and from 19% to 61% for carriers of BRCA2 mutations, respectively. Conclusion PRSs may provide informative cancer risk stratification for male carriers of BRCA1/2 mutations that might enable these men and their physicians to make informed decisions on the type and timing of breast and prostate cancer risk management.

Published
2017
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27. Contribution of MUTYH Variants to Male Breast Cancer Risk: Results From a Multicenter Study in Italy

Author

Rizzolo, Piera, primary, Silvestri, Valentina, additional, Bucalo, Agostino, additional, Zelli, Veronica, additional, Valentini, Virginia, additional, Catucci, Irene, additional, Zanna, Ines, additional, Masala, Giovanna, additional, Bianchi, Simonetta, additional, Spinelli, Alessandro Mauro, additional, Tommasi, Stefania, additional, Tibiletti, Maria Grazia, additional, Russo, Antonio, additional, Varesco, Liliana, additional, Coppa, Anna, additional, Calistri, Daniele, additional, Cortesi, Laura, additional, Viel, Alessandra, additional, Bonanni, Bernardo, additional, Azzollini, Jacopo, additional, Manoukian, Siranoush, additional, Montagna, Marco, additional, Radice, Paolo, additional, Palli, Domenico, additional, Peterlongo, Paolo, additional, and Ottini, Laura, additional

Published
2018
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29. Metastases risk in thin cutaneous melanoma: prognostic value of clinical-pathologic characteristics and mutation profile

Author

Richetta, Antonio G., primary, Valentini, Virginia, additional, Marraffa, Federica, additional, Paolino, Giovanni, additional, Rizzolo, Piera, additional, Silvestri, Valentina, additional, Zelli, Veronica, additional, Carbone, Anna, additional, Di Mattia, Cinzia, additional, Calvieri, Stefano, additional, Frascione, Pasquale, additional, Donati, Pietro, additional, and Ottini, Laura, additional

Published
2018
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30. Abstract 1236: Insight into genetic susceptibility toBRCA-negative male breast cancer by multigene panel testing: Results from a multicenter study in Italy

Author

Rizzolo, Piera, primary, Zelli, Veronica, additional, Silvestri, Valentina, additional, Valentini, Virginia, additional, Spinelli, Alessandro, additional, Tibiletti, Maria Grazia, additional, Russo, Antonio, additional, Varesco, Liliana, additional, Giannini, Giuseppe, additional, Calistri, Daniele, additional, Cortesi, Laura, additional, Viel, Alessandra, additional, Montagna, Marco, additional, Peterlongo, Paolo, additional, Radice, Paolo, additional, Palli, Domenico, additional, and Ottini, Laura, additional

Published
2018
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34. The antiquity of hydrocephalus: the first full palaeo-neuropathological description.

Author

Santi, Raffaella, Rizzolo, Piera, Pietragalla, Michele, Valentini, Virginia, Zelli, Veronica, Galassi, Francesco Maria, Ottini, Laura, and Nesi, Gabriella

Subjects
ANATOMICAL specimens, NEURAL tube, CEREBROSPINAL fluid, AUTOPSY, HYDROCEPHALUS
Abstract

The Pathology Museum of the University of Florence houses a rich collection of anatomical specimens and over a hundred waxworks portraying pathological conditions occurring in the nineteenth century, when the museum was established. Clinical and autopsy findings of these cases can still be retrieved from the original museum catalogue, offering a rare opportunity for retrospective palaeo-pathological diagnostics. We present a historical case of severe hydrocephalus backed by modern-day anthropological, radiological and molecular analyses conducted on the skeleton of an 18-month-old male infant deceased in 1831. Luigi Calamai (1796-1851), a wax craftsman of La Specola workshop in Florence, was commissioned to create a life-sized wax model of the child's head, neck and upper thorax. This artwork allows us to appreciate the cranial and facial alterations determined by 30 lb of cerebrospinal fluid (CSF) accumulated within the cerebral ventricular system. Based on the autopsy report, gross malformations of the neural tube, tumours and haemorrhage could be excluded. A molecular approach proved helpful in confirming sex. We present this case as the so-far most compelling case of hydrocephalus in palaeo-pathological research. [ABSTRACT FROM AUTHOR]

Published
2019
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35. Somatic alterations of targetable oncogenes are frequently observed in BRCA1/2 mutation negative male breast cancers

Author

Rizzolo, Piera, primary, Navazio, Anna Sara, additional, Silvestri, Valentina, additional, Valentini, Virginia, additional, Zelli, Veronica, additional, Zanna, Ines, additional, Masala, Giovanna, additional, Bianchi, Simonetta, additional, Scarnò, Marco, additional, Tommasi, Stefania, additional, Palli, Domenico, additional, and Ottini, Laura, additional

Published
2016
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36. Whole-exome sequencing and targeted gene sequencing provide insights into the role ofPALB2as a male breast cancer susceptibility gene

Author

Silvestri, Valentina, primary, Zelli, Veronica, additional, Valentini, Virginia, additional, Rizzolo, Piera, additional, Navazio, Anna Sara, additional, Coppa, Anna, additional, Agata, Simona, additional, Oliani, Cristina, additional, Barana, Daniela, additional, Castrignanò, Tiziana, additional, Viel, Alessandra, additional, Russo, Antonio, additional, Tibiletti, Maria Grazia, additional, Zanna, Ines, additional, Masala, Giovanna, additional, Cortesi, Laura, additional, Manoukian, Siranoush, additional, Azzollini, Jacopo, additional, Peissel, Bernard, additional, Bonanni, Bernardo, additional, Peterlongo, Paolo, additional, Radice, Paolo, additional, Palli, Domenico, additional, Giannini, Giuseppe, additional, Chillemi, Giovanni, additional, Montagna, Marco, additional, and Ottini, Laura, additional

Published
2016
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37. Evaluation of CYP17A1and CYP1B1polymorphisms in male breast cancer risk

Author

Rizzolo, Piera, Silvestri, Valentina, Valentini, Virginia, Zelli, Veronica, Bucalo, Agostino, Zanna, Ines, Bianchi, Simonetta, Tibiletti, Maria Grazia, Russo, Antonio, Varesco, Liliana, Tedaldi, Gianluca, Bonanni, Bernardo, Azzollini, Jacopo, Manoukian, Siranoush, Coppa, Anna, Giannini, Giuseppe, Cortesi, Laura, Viel, Alessandra, Montagna, Marco, Peterlongo, Paolo, Radice, Paolo, Palli, Domenico, and Ottini, Laura

Abstract

Breast cancer in men is a rare and still poorly characterized disease. Inherited mutations in BRCA1, BRCA2and PALB2genes, as well as common polymorphisms, play a role in male breast cancer genetic predisposition. Male breast cancer is considered a hormone-dependent tumor specifically related to hyperestrogenism. Polymorphisms in genes involved in estrogen biosynthesis and metabolism pathways, such as CYP17A1and CYP1B1, have been associated with breast cancer risk. Here, we aimed to investigate the role of CYP17A1and CYP1B1polymorphisms in male breast cancer risk. A series of 597 male breast cancer cases and 1022 male controls, recruited within the Italian Multicenter Study on male breast cancer, was genotyped for CYP17A1rs743572, CYP1B1rs1056836 and rs1800440 polymorphisms by allelic discrimination real-time PCR with TaqMan probes. Associations with male breast cancer risk were estimated using logistic regression. No statistically significant associations between male breast cancer risk and the three analyzed polymorphisms emerged. Similar results were obtained also when BRCA1/2mutational status was considered. No significant differences in the distribution of the genotypes according to estrogen receptor status emerged. In conclusion, our study, based on a large series of male breast cancer cases, is likely to exclude a relevant role of CYP17A1and CYP1B1polymorphisms in male breast cancer predisposition. Overall, these results add new data to the increasing evidence that polymorphisms in these genes may not be associated with breast cancer risk.

Published
2019
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38. Novel and known genetic variants for male breast cancer risk at 8q24.21, 9p21.3, 11q13.3 and 14q24.1: Results from a multicenter study in Italy

Author

Silvestri, Valentina, primary, Rizzolo, Piera, additional, Scarnò, Marco, additional, Chillemi, Giovanni, additional, Navazio, Anna Sara, additional, Valentini, Virginia, additional, Zelli, Veronica, additional, Zanna, Ines, additional, Saieva, Calogero, additional, Masala, Giovanna, additional, Bianchi, Simonetta, additional, Manoukian, Siranoush, additional, Barile, Monica, additional, Pensotti, Valeria, additional, Peterlongo, Paolo, additional, Varesco, Liliana, additional, Tommasi, Stefania, additional, Russo, Antonio, additional, Giannini, Giuseppe, additional, Cortesi, Laura, additional, Viel, Alessandra, additional, Montagna, Marco, additional, Radice, Paolo, additional, Palli, Domenico, additional, and Ottini, Laura, additional

Published
2015
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40. Prediction of Breast and Prostate Cancer Risks inMale BRCA1 and BRCA2 Mutation Carriers Using Polygenic Risk Scores.

Author

Lecarpentier, Julie, Silvestri, Valentina, Kuchenbaecker, Karoline B., Barrowdale, Daniel, Dennis, Joe, McGuffog, Lesley, Soucy, Penny, Leslie, Goska, Rizzolo, Piera, Navazio, Anna Sara, Valentini, Virginia, Zelli, Veronica, Lee, Andrew, Al Olama, Ali Amin, Tyrer, Jonathan P., Southey, Melissa, John, Esther M., Conner, Thomas A., Goldgar, David E., and Buys, Saundra S.

Published
2017
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41. Transcriptome of Male Breast Cancer Matched with Germline Profiling Reveals Novel Molecular Subtypes with Possible Clinical Relevance.

Author

Zelli, Veronica, Silvestri, Valentina, Valentini, Virginia, Bucalo, Agostino, Rizzolo, Piera, Zanna, Ines, Bianchi, Simonetta, Coppa, Anna, Giannini, Giuseppe, Cortesi, Laura, Calistri, Daniele, Tibiletti, Maria Grazia, Fox, Stephen B., Palli, Domenico, and Ottini, Laura

Subjects
MEN'S health, GENETIC mutation, GENETIC testing, CELL receptors, FISHER exact test, MALE breast cancer, MOLECULAR biology, T-test (Statistics), GENE expression profiling, DESCRIPTIVE statistics, TUMOR markers, DATA analysis software
Abstract

Simple Summary: Breast cancer in men is a rare disease; however, morbidity and mortality in male breast cancer (MBC) patients is a serious concern. The identification of specific molecular features in MBC is essential for developing more appropriate and targeted therapeutic strategies for MBC patients. In this study, by transcriptome analysis of 63 MBCs characterized for germline mutations in the most relevant BC susceptibility genes, mainly BRCA1/2, we highlighted possible differences in the molecular pathways underlying MBC pathogenesis in relation to germline mutation status. Furthermore, we identified two distinct subgroups of MBCs of clinical relevance, which are characterized by different biological features and prognosis. Overall, our results showed that transcriptome profiling by RNA sequencing is a valuable approach to dissect the molecular heterogeneity of MBC and suggest that the transcriptome matched with germline profiling may lead to the identification of MBC subtypes with possible relevance in the clinical setting, which is a primary step to improve the clinical management of MBC patients. Male breast cancer (MBC) is a rare and understudied disease compared with female BC. About 15% of MBCs are associated with germline mutation in BC susceptibility genes, mainly BRCA1/2 and PALB2. Hereditary MBCs are likely to represent a subgroup of tumors with a peculiar phenotype. Here, we performed a whole transcriptome analysis of MBCs characterized for germline mutations in the most relevant BC susceptibility genes in order to identify molecular subtypes with clinical relevance. A series of 63 MBCs, including 16 BRCA2, 6 BRCA1, 2 PALB2, 1 RAD50, and 1 RAD51D germline-mutated cases, was analyzed by RNA-sequencing. Differential expression and hierarchical clustering analyses were performed. Module signatures associated with central biological processes involved in breast cancer pathogenesis were also examined. Different transcriptome profiles for genes mainly involved in the cell cycle, DNA damage, and DNA repair pathways emerged between MBCs with and without germline mutations. Unsupervised clustering analysis revealed two distinct subgroups, one of which was characterized by a higher expression of immune response genes, high scores of gene-expression signatures suggestive of aggressive behavior, and worse overall survival. Our results suggest that transcriptome matched with germline profiling may be a valuable approach for the identification and characterization of MBC subtypes with possible relevance in the clinical setting. [ABSTRACT FROM AUTHOR]

Published
2021
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42. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

Author

Barnes, Daniel R, Silvestri, Valentina, Leslie, Goska, McGuffog, Lesley, Dennis, Joe, Yang, Xin, Adlard, Julian, Agnarsson, Bjarni A, Ahmed, Munaza, Aittomäki, Kristiina, Andrulis, Irene L, Arason, Adalgeir, Arnold, Norbert, Auber, Bernd, Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B, Barrowdale, Daniel, Barwell, Julian, Belotti, Muriel, Benitez, Javier, Berthet, Pascaline, Boonen, Susanne E, Borg, Åke, Bozsik, Aniko, Brady, Angela F, Brennan, Paul, Brewer, Carole, Brunet, Joan, Bucalo, Agostino, Buys, Saundra S, Caldés, Trinidad, Caligo, Maria A, Campbell, Ian, Cassingham, Hayley, Christensen, Lise Lotte, Cini, Giulia, Claes, Kathleen BM, GEMO Study Collaborators, EMBRACE Collaborators, Cook, Jackie, Coppa, Anna, Cortesi, Laura, Damante, Giuseppe, Darder, Esther, Davidson, Rosemarie, De La Hoya, Miguel, De Leeneer, Kim, De Putter, Robin, Del Valle, Jesús, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M, Donaldson, Alan, Eason, Jacqueline, Eeles, Ros, Engel, Christoph, Evans, D Gareth, Feliubadaló, Lidia, Fostira, Florentia, Frone, Megan, Frost, Debra, Gallagher, David, Gehrig, Andrea, Giraud, Sophie, Glendon, Gord, Godwin, Andrew K, Goldgar, David E, Greene, Mark H, Gregory, Helen, Gross, Eva, Hahnen, Eric, Hamann, Ute, Hansen, Thomas VO, Hanson, Helen, Hentschel, Julia, Horvath, Judit, KConFab Investigators, HEBON Investigators, Izatt, Louise, Izquierdo, Angel, James, Paul A, Janavicius, Ramunas, Jensen, Uffe Birk, Johannsson, Oskar Th, John, Esther M, Kramer, Gero, Kroeldrup, Lone, Kruse, Torben A, Lautrup, Charlotte, Lazaro, Conxi, Lesueur, Fabienne, Lopez-Fernández, Adria, Mai, Phuong L, Manoukian, Siranoush, Matrai, Zoltan, Matricardi, Laura, Maxwell, Kara N, Mebirouk, Noura, Meindl, Alfons, Montagna, Marco, Monteiro, Alvaro N, Morrison, Patrick J, Muranen, Taru A, Murray, Alex, Nathanson, Katherine L, Neuhausen, Susan L, Nevanlinna, Heli, Nguyen-Dumont, Tu, Niederacher, Dieter, Olah, Edith, Olopade, Olufunmilayo I, Palli, Domenico, Parsons, Michael T, Pedersen, Inge Sokilde, Peissel, Bernard, Perez-Segura, Pedro, Peterlongo, Paolo, Petersen, Annabeth H, Pinto, Pedro, Porteous, Mary E, Pottinger, Caroline, Pujana, Miquel Angel, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Robson, Mark, Rogers, Mark T, Rønlund, Karina, Rump, Andreas, Sánchez De Abajo, Ana María, Shah, Payal D, Sharif, Saba, Side, Lucy E, Singer, Christian F, Stadler, Zsofia, Steele, Linda, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R, Teulé, Alex, Thull, Darcy L, Tischkowitz, Marc, Toland, Amanda E, Tommasi, Stefania, Toss, Angela, Trainer, Alison H, Tripathi, Vishakha, Valentini, Virginia, Van Asperen, Christi J, Venturelli, Marta, Viel, Alessandra, Vijai, Joseph, Walker, Lisa, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Whaite, Anna, Zanna, Ines, Offit, Kenneth, Thomassen, Mads, Couch, Fergus J, Schmutzler, Rita K, Simard, Jacques, Easton, Douglas F, Chenevix-Trench, Georgia, Antoniou, Antonis C, Ottini, Laura, and Consortium Of Investigators Of Modifiers Of BRCA1 And BRCA2

Subjects
Aged, 80 and over, BRCA2 Protein, Male, Heterozygote, BRCA1 Protein, Prostatic Neoplasms, Breast Neoplasms, Polymorphism, Single Nucleotide, Risk Assessment, 3. Good health, Risk Factors, Mutation, Humans, Genetic Predisposition to Disease, skin and connective tissue diseases
Abstract

BACKGROUND: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers. METHODS: 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk. RESULTS: PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions. CONCLUSIONS: Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management.

43. Targeting SMYD3 to Sensitize Homologous Recombination-Proficient Tumors to PARP-Mediated Synthetic Lethality

Author

Silvia Corbetta, Vittoria Disciglio, Martina Lepore Signorile, Alberto Del Rio, Natale Porta, Valentina Grossi, Stefania Bertora, Valeria Di Maio, Manuela Bartolini, Valentina Silvestri, Giovanna Forte, Cristiano Simone, Paola Sanese, Giuseppina Caretti, Katia De Marco, Giacomo Buscemi, Laura Ottini, Cinzia Bottino, Candida Fasano, Virginia Valentini, Elisabetta Manoni, Gianluigi Giannelli, Ummu Guven, Edoardo Fabini, Sanese, Paola, Fasano, Candida, Buscemi, Giacomo, Bottino, Cinzia, Corbetta, Silvia, Fabini, Edoardo, Silvestri, Valentina, Valentini, Virginia, Disciglio, Vittoria, Forte, Giovanna, Lepore Signorile, Martina, De Marco, Katia, Bertora, Stefania, Grossi, Valentina, Guven, Ummu, Porta, Natale, Di Maio, Valeria, Manoni, Elisabetta, Giannelli, Gianluigi, Bartolini, Manuela, Del Rio, Alberto, Caretti, Giuseppina, Ottini, Laura, and Simone, Cristiano

Subjects
0301 basic medicine, Mutant, RAD51, 02 engineering and technology, Synthetic lethality, medicine.disease_cause, Article, 03 medical and health sciences, medicine, carcinogenesi, lcsh:Science, Molecular Biology, Cancer, SMYD3, Multidisciplinary, Chemistry, cancer, cell biology, molecular biology, Cell Biology, 021001 nanoscience & nanotechnology, medicine.disease, Synthetic Lethality, 030104 developmental biology, PARP-dependent DNA damage, Cancer cell, Cancer research, Phosphorylation, lcsh:Q, 0210 nano-technology, Carcinogenesis, Homologous recombination
Abstract

Summary SMYD3 is frequently overexpressed in a wide variety of cancers. Indeed, its inactivation reduces tumor growth in preclinical in vivo animal models. However, extensive characterization in vitro failed to clarify SMYD3 function in cancer cells, although confirming its importance in carcinogenesis. Taking advantage of a SMYD3 mutant variant identified in a high-risk breast cancer family, here we show that SMYD3 phosphorylation by ATM enables the formation of a multiprotein complex including ATM, SMYD3, CHK2, and BRCA2, which is required for the final loading of RAD51 at DNA double-strand break sites and completion of homologous recombination (HR). Remarkably, SMYD3 pharmacological inhibition sensitizes HR-proficient cancer cells to PARP inhibitors, thereby extending the potential of the synthetic lethality approach in human tumors., Graphical Abstract, Highlights • SMYD3 phosphorylation by ATM favors the formation of HR complexes during DSB response • SMYD3 mediates DSB repair by promoting RAD51 recruitment at DNA damage sites • SMYD3 inhibition triggers a compensatory PARP-dependent DNA damage response • Co-targeting SMYD3/PARP leads to synthetic lethality in HR-proficient cancer cells, Molecular Biology; Cell Biology; Cancer

Published
2020

44. Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores.

Author

Barnes DR, Silvestri V, Leslie G, McGuffog L, Dennis J, Yang X, Adlard J, Agnarsson BA, Ahmed M, Aittomäki K, Andrulis IL, Arason A, Arnold N, Auber B, Azzollini J, Balmaña J, Barkardottir RB, Barrowdale D, Barwell J, Belotti M, Benitez J, Berthet P, Boonen SE, Borg Å, Bozsik A, Brady AF, Brennan P, Brewer C, Brunet J, Bucalo A, Buys SS, Caldés T, Caligo MA, Campbell I, Cassingham H, Christensen LL, Cini G, Claes KBM, Cook J, Coppa A, Cortesi L, Damante G, Darder E, Davidson R, de la Hoya M, De Leeneer K, de Putter R, Del Valle J, Diez O, Ding YC, Domchek SM, Donaldson A, Eason J, Eeles R, Engel C, Evans DG, Feliubadaló L, Fostira F, Frone M, Frost D, Gallagher D, Gehrig A, Giraud S, Glendon G, Godwin AK, Goldgar DE, Greene MH, Gregory H, Gross E, Hahnen E, Hamann U, Hansen TVO, Hanson H, Hentschel J, Horvath J, Izatt L, Izquierdo A, James PA, Janavicius R, Jensen UB, Johannsson OT, John EM, Kramer G, Kroeldrup L, Kruse TA, Lautrup C, Lazaro C, Lesueur F, Lopez-Fernández A, Mai PL, Manoukian S, Matrai Z, Matricardi L, Maxwell KN, Mebirouk N, Meindl A, Montagna M, Monteiro AN, Morrison PJ, Muranen TA, Murray A, Nathanson KL, Neuhausen SL, Nevanlinna H, Nguyen-Dumont T, Niederacher D, Olah E, Olopade OI, Palli D, Parsons MT, Pedersen IS, Peissel B, Perez-Segura P, Peterlongo P, Petersen AH, Pinto P, Porteous ME, Pottinger C, Pujana MA, Radice P, Ramser J, Rantala J, Robson M, Rogers MT, Rønlund K, Rump A, Sánchez de Abajo AM, Shah PD, Sharif S, Side LE, Singer CF, Stadler Z, Steele L, Stoppa-Lyonnet D, Sutter C, Tan YY, Teixeira MR, Teulé A, Thull DL, Tischkowitz M, Toland AE, Tommasi S, Toss A, Trainer AH, Tripathi V, Valentini V, van Asperen CJ, Venturelli M, Viel A, Vijai J, Walker L, Wang-Gohrke S, Wappenschmidt B, Whaite A, Zanna I, Offit K, Thomassen M, Couch FJ, Schmutzler RK, Simard J, Easton DF, Chenevix-Trench G, Antoniou AC, and Ottini L

Subjects
Aged, 80 and over, BRCA1 Protein genetics, BRCA2 Protein genetics, Genetic Predisposition to Disease, Heterozygote, Humans, Male, Mutation, Polymorphism, Single Nucleotide, Risk Assessment, Risk Factors, Breast Neoplasms epidemiology, Breast Neoplasms genetics, Prostatic Neoplasms epidemiology, Prostatic Neoplasms genetics
Abstract

Background: Recent population-based female breast cancer and prostate cancer polygenic risk scores (PRS) have been developed. We assessed the associations of these PRS with breast and prostate cancer risks for male BRCA1 and BRCA2 pathogenic variant carriers., Methods: 483 BRCA1 and 1318 BRCA2 European ancestry male carriers were available from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). A 147-single nucleotide polymorphism (SNP) prostate cancer PRS (PRSPC) and a 313-SNP breast cancer PRS were evaluated. There were 3 versions of the breast cancer PRS, optimized to predict overall (PRSBC), estrogen receptor (ER)-negative (PRSER-), or ER-positive (PRSER+) breast cancer risk., Results: PRSER+ yielded the strongest association with breast cancer risk. The odds ratios (ORs) per PRSER+ standard deviation estimates were 1.40 (95% confidence interval [CI] =1.07 to 1.83) for BRCA1 and 1.33 (95% CI = 1.16 to 1.52) for BRCA2 carriers. PRSPC was associated with prostate cancer risk for BRCA1 (OR = 1.73, 95% CI = 1.28 to 2.33) and BRCA2 (OR = 1.60, 95% CI = 1.34 to 1.91) carriers. The estimated breast cancer odds ratios were larger after adjusting for female relative breast cancer family history. By age 85 years, for BRCA2 carriers, the breast cancer risk varied from 7.7% to 18.4% and prostate cancer risk from 34.1% to 87.6% between the 5th and 95th percentiles of the PRS distributions., Conclusions: Population-based prostate and female breast cancer PRS are associated with a wide range of absolute breast and prostate cancer risks for male BRCA1 and BRCA2 carriers. These findings warrant further investigation aimed at providing personalized cancer risks for male carriers and informing clinical management., (© The Author(s) 2021. Published by Oxford University Press.)

Published
2022
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