Search

Your search keyword '"Silvestri Valentina."' showing total 367 results
Start Over Author "Silvestri Valentina."
367 results on '"Silvestri Valentina."'

2. Cancer Risks Associated With BRCA1 and BRCA2 Pathogenic Variants

Author

Li, Shuai, Silvestri, Valentina, Leslie, Goska, Rebbeck, Timothy R, Neuhausen, Susan L, Hopper, John L, Nielsen, Henriette Roed, Lee, Andrew, Yang, Xin, McGuffog, Lesley, Parsons, Michael T, Andrulis, Irene L, Arnold, Norbert, Belotti, Muriel, Borg, Åke, Buecher, Bruno, Buys, Saundra S, Caputo, Sandrine M, Chung, Wendy K, Colas, Chrystelle, Colonna, Sarah V, Cook, Jackie, Daly, Mary B, de la Hoya, Miguel, de Pauw, Antoine, Delhomelle, Hélène, Eason, Jacqueline, Engel, Christoph, Evans, D Gareth, Faust, Ulrike, Fehm, Tanja N, Fostira, Florentia, Fountzilas, George, Frone, Megan, Garcia-Barberan, Vanesa, Garre, Pilar, Gauthier-Villars, Marion, Gehrig, Andrea, Glendon, Gord, Goldgar, David E, Golmard, Lisa, Greene, Mark H, Hahnen, Eric, Hamann, Ute, Hanson, Helen, Hassan, Tiara, Hentschel, Julia, Horvath, Judit, Izatt, Louise, Janavicius, Ramunas, Jiao, Yue, John, Esther M, Karlan, Beth Y, Kim, Sung-Won, Konstantopoulou, Irene, Kwong, Ava, Laugé, Anthony, Lee, Jong Won, Lesueur, Fabienne, Mebirouk, Noura, Meindl, Alfons, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Yie, Joanne Ngeow Yuen, Niederacher, Dieter, Park, Sue K, Pedersen, Inge Sokilde, Ramser, Juliane, Ramus, Susan J, Rantala, Johanna, Rashid, Muhammad U, Reichl, Florian, Ritter, Julia, Rump, Andreas, Santamariña, Marta, Saule, Claire, Schmidt, Gunnar, Schmutzler, Rita K, Senter, Leigha, Shariff, Saba, Singer, Christian F, Southey, Melissa C, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen, Teo, Soo Hwang, Terry, Mary Beth, Thomassen, Mads, Tischkowitz, Marc, Toland, Amanda E, Torres, Diana, Vega, Ana, Wagner, Sebastian A, Wang-Gohrke, Shan, Wappenschmidt, Barbara, Weber, Bernhard HF, Yannoukakos, Drakoulis, Spurdle, Amanda B, Easton, Douglas F, and Chenevix-Trench, Georgia

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Prostate Cancer, Women's Health, Digestive Diseases, Breast Cancer, Ovarian Cancer, Pancreatic Cancer, Prevention, Cancer, Urologic Diseases, Rare Diseases, 2.1 Biological and endogenous factors, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Heterozygote, Humans, Infant, Newborn, Male, Mutation, Ovarian Neoplasms, Pancreatic Neoplasms, Risk, Clinical Sciences, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

PurposeTo provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) in BRCA1 and BRCA2 for effective cancer risk management.MethodsWe used data from 3,184 BRCA1 and 2,157 BRCA2 families in the Consortium of Investigators of Modifiers of BRCA1/2 to estimate age-specific relative (RR) and absolute risks for 22 first primary cancer types adjusting for family ascertainment.ResultsBRCA1 PVs were associated with risks of male breast (RR = 4.30; 95% CI, 1.09 to 16.96), pancreatic (RR = 2.36; 95% CI, 1.51 to 3.68), and stomach (RR = 2.17; 95% CI, 1.25 to 3.77) cancers. Associations with colorectal and gallbladder cancers were also suggested. BRCA2 PVs were associated with risks of male breast (RR = 44.0; 95% CI, 21.3 to 90.9), stomach (RR = 3.69; 95% CI, 2.40 to 5.67), pancreatic (RR = 3.34; 95% CI, 2.21 to 5.06), and prostate (RR = 2.22; 95% CI, 1.63 to 3.03) cancers. The stomach cancer RR was higher for females than males (6.89 v 2.76; P = .04). The absolute risks to age 80 years ranged from 0.4% for male breast cancer to approximately 2.5% for pancreatic cancer for BRCA1 carriers and from approximately 2.5% for pancreatic cancer to 27% for prostate cancer for BRCA2 carriers.ConclusionIn addition to female breast and ovarian cancers, BRCA1 and BRCA2 PVs are associated with increased risks of male breast, pancreatic, stomach, and prostate (only BRCA2 PVs) cancers, but not with the risks of other previously suggested cancers. The estimated age-specific risks will refine cancer risk management in men and women with BRCA1/2 PVs.

Published
2022

3. Germline Aberrations in Pancreatic Cancer: Implications for Clinical Care

Author

Casolino, Raffaella, Corbo, Vincenzo, Beer, Philip, Hwang, Chang-il, Paiella, Salvatore, Silvestri, Valentina, Ottini, Laura, and Biankin, Andrew V

Subjects
Cancer, Orphan Drug, Digestive Diseases, Rare Diseases, Pancreatic Cancer, Genetics, Clinical Trials and Supportive Activities, Clinical Research, Prevention, Biotechnology, 2.1 Biological and endogenous factors, Detection, screening and diagnosis, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, 5.1 Pharmaceuticals, Development of treatments and therapeutic interventions, Good Health and Well Being, germline, pancreatic cancer, BRCA, PARP inhibitors, precision prevention, familial pancreatic cancer, Oncology and Carcinogenesis
Abstract

Pancreatic ductal adenocarcinoma (PDAC) has an extremely poor prognosis and represents a major public health issue, as both its incidence and mortality are expecting to increase steeply over the next years. Effective screening strategies are lacking, and most patients are diagnosed with unresectable disease precluding the only chance of cure. Therapeutic options for advanced disease are limited, and the treatment paradigm is still based on chemotherapy, with a few rare exceptions to targeted therapies. Germline variants in cancer susceptibility genes-particularly those involved in mechanisms of DNA repair-are emerging as promising targets for PDAC treatment and prevention. Hereditary PDAC is part of the spectrum of several syndromic disorders, and germline testing of PDAC patients has relevant implications for broad cancer prevention. Germline aberrations in BRCA1 and BRCA2 genes are predictive biomarkers of response to poly(adenosine diphosphate-ribose) polymerase (PARP) inhibitor olaparib and platinum-based chemotherapy in PDAC, while mutations in mismatch repair genes identify patients suitable for immune checkpoint inhibitors. This review provides a timely and comprehensive overview of germline aberrations in PDAC and their implications for clinical care. It also discusses the need for optimal approaches to better select patients for PARP inhibitor therapy, novel therapeutic opportunities under clinical investigation, and preclinical models for cancer susceptibility and drug discovery.

Published
2022

5. 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
Full Text
View/download PDF

7. Perception of Facial Cues to Trustworthiness in Infancy: Insights from the Spatial Frequency Filtering Approach.

Author

Silvestri, Valentina and Macchi Cassia, Viola

Subjects
*TRUST, *SOCIAL skills, *SPATIAL filters, *INFANTS, *FACIAL expression, *FRIENDSHIP, *FACIAL expression & emotions (Psychology)
Abstract

A crucial aspect of human social competence is the ability to spontaneously and rapidly infer from facial cues whether others are likely to approach us with friendliness or hostility—that is, trustworthiness. The rapid and automatic nature of these inferences has prompted the claim that they may originate from evolutionary pressures to detect potential threats, thus enhancing our chances of survival. However, the developmental origins of this social skill remain a topic of ongoing debate. Recent evidence shows that infants' brains and looking time behaviors differentiate between faces varying along the trustworthiness continuum, but the question about the nature of the facial cues they rely on remains open. In this review, we propose the spatial frequency (SF) filtering approach (i.e., the selective removal of spatial frequency bands from the image) as a useful tool for investigating this question, and specifically whether infants' discrimination of facial expressions of emotion share common visual and neural mechanisms with discrimination of facial cues associated with trustworthiness inferences. The SF filtering approach could shed light on the neural and perceptual mechanisms underlying trustworthiness perception in infancy, providing insights into whether and how these mechanisms change across development. The evidence gathered through this method would prove critical to the understanding of the developmental origins of trustworthiness perception. [ABSTRACT FROM AUTHOR]

Published
2024
Full Text
View/download PDF

9. Tech That, Bully!

Author

Miccoli, Maria Rosa, primary, Gargaglione, Giulia, additional, Barbato, Simone, additional, Di Natale, Lorenzo, additional, Rotelli, Valentina, additional, and Silvestri, Valentina, additional

Published
2022
Full Text
View/download PDF

12. 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
Full Text
View/download PDF

13. 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
Full Text
View/download PDF

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

Author

Silvestri, Valentina, Barrowdale, Daniel, Mulligan, Anna Marie, Neuhausen, Susan L, Fox, Stephen, Karlan, Beth Y, Mitchell, Gillian, James, Paul, Thull, Darcy L, Zorn, Kristin K, Carter, Natalie J, Nathanson, Katherine L, Domchek, Susan M, Rebbeck, Timothy R, Ramus, Susan J, Nussbaum, Robert L, Olopade, Olufunmilayo I, Rantala, Johanna, Yoon, Sook-Yee, Caligo, Maria A, Spugnesi, Laura, Bojesen, Anders, Pedersen, Inge Sokilde, Thomassen, Mads, Jensen, Uffe Birk, Toland, Amanda Ewart, Senter, Leigha, Andrulis, Irene L, Glendon, Gord, Hulick, Peter J, Imyanitov, Evgeny N, Greene, Mark H, Mai, Phuong L, Singer, Christian F, Rappaport-Fuerhauser, Christine, Kramer, Gero, Vijai, Joseph, Offit, Kenneth, Robson, Mark, Lincoln, Anne, Jacobs, Lauren, Machackova, Eva, Foretova, Lenka, Navratilova, Marie, Vasickova, Petra, Couch, Fergus J, Hallberg, Emily, Ruddy, Kathryn J, Sharma, Priyanka, Kim, Sung-Won, kConFab Investigators, Teixeira, Manuel R, Pinto, Pedro, Montagna, Marco, Matricardi, Laura, Arason, Adalgeir, Johannsson, Oskar Th, Barkardottir, Rosa B, Jakubowska, Anna, Lubinski, Jan, Izquierdo, Angel, Pujana, Miguel Angel, Balmaña, Judith, Diez, Orland, Ivady, Gabriella, Papp, Janos, Olah, Edith, Kwong, Ava, Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), Nevanlinna, Heli, Aittomäki, Kristiina, Perez Segura, Pedro, Caldes, Trinidad, Van Maerken, Tom, Poppe, Bruce, Claes, Kathleen BM, Isaacs, Claudine, Elan, Camille, Lasset, Christine, Stoppa-Lyonnet, Dominique, Barjhoux, Laure, Belotti, Muriel, Meindl, Alfons, Gehrig, Andrea, Sutter, Christian, Engel, Christoph, Niederacher, Dieter, Steinemann, Doris, Hahnen, Eric, Kast, Karin, Arnold, Norbert, Varon-Mateeva, Raymonda, Wand, Dorothea, Godwin, Andrew K, Evans, D Gareth, Frost, Debra, Perkins, Jo, Adlard, Julian, Izatt, Louise, and Platte, Radka

Subjects
Biomedical and Clinical Sciences, Clinical Sciences, Oncology and Carcinogenesis, Breast Cancer, Cancer, 2.1 Biological and endogenous factors, Aetiology, Adult, Aged, BRCA1 Protein, BRCA2 Protein, Breast Neoplasms, Breast Neoplasms, Male, Female, Genetic Predisposition to Disease, Humans, Male, Middle Aged, Mutation, Neoplasm Staging, Polymorphism, Single Nucleotide, Male breast cancer, BRCA1/2, Pathology, Histologic grade, Genotype-phenotype correlations, kConFab Investigators, Hereditary Breast and Ovarian Cancer Research Group Netherlands, EMBRACE, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundBRCA1 and, more commonly, BRCA2 mutations are associated with increased risk of male breast cancer (MBC). However, only a paucity of data exists on the pathology of breast cancers (BCs) in men with BRCA1/2 mutations. Using the largest available dataset, we determined whether MBCs arising in BRCA1/2 mutation carriers display specific pathologic features and whether these features differ from those of BRCA1/2 female BCs (FBCs).MethodsWe characterised the pathologic features of 419 BRCA1/2 MBCs and, using logistic regression analysis, contrasted those with data from 9675 BRCA1/2 FBCs and with population-based data from 6351 MBCs in the Surveillance, Epidemiology, and End Results (SEER) database.ResultsAmong BRCA2 MBCs, grade significantly decreased with increasing age at diagnosis (P = 0.005). Compared with BRCA2 FBCs, BRCA2 MBCs were of significantly higher stage (P for trend = 2 × 10(-5)) and higher grade (P for trend = 0.005) and were more likely to be oestrogen receptor-positive [odds ratio (OR) 10.59; 95 % confidence interval (CI) 5.15-21.80] and progesterone receptor-positive (OR 5.04; 95 % CI 3.17-8.04). With the exception of grade, similar patterns of associations emerged when we compared BRCA1 MBCs and FBCs. BRCA2 MBCs also presented with higher grade than MBCs from the SEER database (P for trend = 4 × 10(-12)).ConclusionsOn the basis of the largest series analysed to date, our results show that BRCA1/2 MBCs display distinct pathologic characteristics compared with BRCA1/2 FBCs, and we identified a specific BRCA2-associated MBC phenotype characterised by a variable suggesting greater biological aggressiveness (i.e., high histologic grade). These findings could lead to the development of gender-specific risk prediction models and guide clinical strategies appropriate for MBC management.

Published
2016

20. Tech That, Bully!

Author

Miccoli, Maria Rosa, primary, Gargaglione, Giulia, additional, Barbato, Simone, additional, Di Natale, Lorenzo, additional, Rotelli, Valentina, additional, and Silvestri, Valentina, additional

Published
2020
Full Text
View/download PDF

22. 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
Full Text
View/download PDF

23. Human cardiac progenitor cells with regenerative potential can be isolated and characterized from 3D-electro-anatomic guided endomyocardial biopsies

Author

D'Amario, Domenico, Leone, Antonio Maria, Narducci, Maria Lucia, Smaldone, Costantino, Lecis, Dalgisio, Inzani, Frediano, Luciani, Marco, Siracusano, Andrea, La Neve, Federica, Manchi, Melissa, Pelargonio, Gemma, Perna, Francesco, Bruno, Piergiorgio, Massetti, Massimo, Pitocco, Dario, Cappetta, Donato, Esposito, Grazia, Urbanek, Konrad, De Angelis, Antonella, Rossi, Francesco, Piacentini, Roberto, Angelini, Giulia, Li Puma, Domenica Donatella, Grassi, Claudio, De Paolis, Elisa, Capoluongo, Ettore, Silvestri, Valentina, Merlino, Biagio, Marano, Riccardo, and Crea, Filippo

Published
2017
Full Text
View/download PDF

26. 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
Full Text
View/download PDF

27. 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
Full Text
View/download PDF

29. 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

32. Reply to V. Fallet et al

Author

Li, Shuai, primary, Silvestri, Valentina, additional, Rebbeck, Timothy R., additional, Neuhausen, Susan L., additional, Hopper, John L., additional, Nielsen, Henriette Roed, additional, Ottini, Laura, additional, and Antoniou, Antonis C., additional

Published
2022
Full Text
View/download PDF

34. AND I’LL SEE YOU IN THE HIGH AND LOW. The ontogenetic origins of sensitivity to facial cues to trustworthiness and emotion

Author

SILVESTRI, VALENTINA, Silvestri, V, and MACCHI CASSIA, VIOLA MARINA

Subjects
affidabilità, sviluppo, M-PSI/04 - PSICOLOGIA DELLO SVILUPPO E PSICOLOGIA DELL'EDUCAZIONE, percezione visiva, spatial frequencie, emotion, visual perception, trustworthine, emozioni, frequenze spaziali
Abstract

Una componente fondamentale della competenza sociale degli esseri umani è l'abilità di estrarre rapidamente e in modo spontaneo i segnali sociali che provengono dal volto, quali per esempio i tratti emotivi e di affidabilità. Il fatto che le risposte a queste configurazioni facciali siano rapide e automatiche suggerisce come esse derivino dalla pressione evolutiva a rilevare segnali di pericolo per aumentare le possibilità di sopravvivenza. Tuttavia, le origini ontogenetiche di queste abilità sociali sono ancora oggetto di dibattito. La presente tesi di dottorato si pone l'obiettivo di indagare la natura dell’informazione visiva che media la discriminazione delle emozioni e/o la percezione dell'affidabilità dai volti utilizzando l'approccio del filtraggio spaziale, ossia la rimozione selettiva di bande di frequenze spaziali contenute nell'immagine. Nello specifico, l’elaborato comprende 5 studi volti a indagare (1) la natura dell'informazione visiva sui cui si basano i giudizi espliciti di affidabilità degli adulti (Studio 1) (2) se la percezione di affidabilità di adulti (Studio 2) e bambini (Studio 3) è generalizzata a volti di un'etnia differente dalla propria e la natura dell'informazione visiva coinvolta, (3) la natura dell'informazione visiva che determina la discriminazione neurale di affidabilità dai volti nei preverbali (Studio 4), e (4) la natura dell'informazione visiva su cui si basa la discriminazione visiva delle emozioni alla nascita (Studio 5a e 5b). I risultati dello Studio 1 mostrano che sebbene sia le informazioni visive globali, veicolate dalle frequenze spaziali basse, che le informazioni visive locali, veicolate dalle frequenze spaziali alte, sono sufficienti per discriminare tra livelli di affidabilità, l'informazione globale gioca un ruolo cruciale. Gli Studi 2 e 3 estendono le considerazioni sulla natura dell'informazione visiva coinvolta nella percezione di affidabilità a volti meno presenti nell'ambiente sociale dell'individuo, volti di un'altra etnia. Dunque, l'obiettivo è indagare se la percezione di affidabilità nei bambini (Studio 3) si basa sulle stesse informazioni visive su cui si basa negli adulti (Studio 2) e se la stessa differisca in base all'etnia del volto. I risultati mostrano che le informazioni visive coinvolte nella percezione di affidabilità dai volti della propria o altrui etnia cambiano in relazione al grado di familiarità del volto durante lo sviluppo. Nello Studio 4, attraverso un nuovo paradigma di registrazione della risposta neurale, la Fast Periodic Visual Stimulation, viene esplorata l'informazione visiva che i bambini di 6 mesi utilizzano per discriminare tra volti affidabili e inaffidabili. I bambini di 6 mesi discriminano tra volti affidabili e non affidabili sulla base di informazioni visive differenti. Le informazioni locali mediano la discriminazione di volti affidabili mentre la discriminazione di volti non affidabili si basa su informazione visiva locale. I risultati vengono discussi alla luce delle eventuali implicazioni per la comprensione dei meccanismi percettivi e neurali coinvolti nella discriminazione di volti a valenza positiva e negativa. Lo Studio 5 ha indagato il ruolo dell'informazione visiva nella percezione delle emozioni alla nascita. I neonati a 2 giorni di vita discriminano tra volti felici e impauriti sia quando rimangono solo le frequenze spaziali alte che quando rimangono solo le frequenze spaziali basse. Tuttavia, i neonati preferiscono i volti felici ai volti impauriti solo quando nell’immagine rimangono le frequenze spaziali alte. Dunque, l'informazione visiva presente nell'immagine modula la salienza dei segnali sociali dai volti fin dalle prime ore di vita. Nel complesso, i risultati suggeriscono che la percezione di affidabilità ed emotiva si basa su una sensibilità adattiva ed evoluzionistica che si raffina nel corso dello sviluppo come risultato dell'esperienza nell'ambiente sociale. One fundamental component of humans' social competence is the ability to rapidly and spontaneously extrapolate facial cues of emotion and trustworthiness - i.e., whether others are likely to approach us friendly or hostilely. The fast and automatic nature of these responses to facial configurations has led to the claim that they derive from evolutionary pressure to detect signals of potential harm, and distinguish between friends or foes to enhance our chances of survival. However, the ontogenetic origins of these fundamental social skills are still debated. To explore this question, the studies reported in this doctoral dissertation investigated the nature of the visual information driving emotion discrimination and/or trustworthiness perception across the life span using the spatial filtering approach - i.e., the selective removal of portions of the spatial frequencies (SF) information contained in the image. Specifically, this doctoral dissertation includes 5 studies aimed at investigating (1) the nature of the visual information on which adults' explicit judgments of trustworthiness are based (Study 1), (2) whether trustworthiness perception in adults (Study 2) and children (Study 3) generalizes across face-race and/or the nature of the visual information on which trustworthiness judgments are based differs for more versus less familiar face categories, (3) the nature of the visual information that triggers neural discrimination of facial cues to trustworthiness in preverbal infants (Study 4), and (4) the nature of the visual information that mediates visual discrimination of emotional facial expressions at birth (Study 5a and 5b). Results of Study 1 showed that, although both global visual cues, conveyed by low-spatial frequency bands, and local visual cues, conveyed by high-spatial frequency bands, are sufficient to discriminate between levels of trustworthiness, the selective removal of global information negatively impacts trustworthiness perception. Study 2 and 3 extended evidence on the nature of visual information involved in trustworthiness perception to faces underrepresented in the individual's social environment, other-race faces, in adults and preschool and school children. Results showed that in the course of development the visual information involved in own- and other-race trustworthiness perception changes. Study 4 used a newly developed Electroencephalographic (EEG) visual discrimination paradigm, the Fast Periodic Visual Stimulation, to investigate which visual information 6-month-old infants use to discriminate between trustworthy and untrustworthy faces. The infants’ brain discriminated between high-trustworthy and low-trustworthy faces based on different types of visual information. Results are discussed for their implications for the understanding of the perceptual/neural mechanisms involved in early discrimination between positive and negative valence faces. Study 5 explored the role of visual information in emotion perception at birth. 2-days-old newborns discriminate between happy and fearful facial expressions with both high and low spatial frequency information but they prefer happy faces when only high spatial frequencies remain. The visual information present in the image modulates the salience of the facial cues to emotions from the first hours of life. Altogether, the evidence gathered from the current studies adds to the existing literature suggesting that emotion and trustworthiness perception are based on an adaptive and evolutionary sensitivity early in life that is refined over the course of development as a result of the quantity and quality of facial experience in the social environment.

Published
2022

35. 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

39. AND I’LL SEE YOU IN THE HIGH AND LOW. The ontogenetic origins of sensitivity to facial cues to trustworthiness and emotion

Author

Silvestri, V, MACCHI CASSIA, VIOLA MARINA, SILVESTRI, VALENTINA, Silvestri, V, MACCHI CASSIA, VIOLA MARINA, and SILVESTRI, VALENTINA

Abstract

Una componente fondamentale della competenza sociale degli esseri umani è l'abilità di estrarre rapidamente e in modo spontaneo i segnali sociali che provengono dal volto, quali per esempio i tratti emotivi e di affidabilità. Il fatto che le risposte a queste configurazioni facciali siano rapide e automatiche suggerisce come esse derivino dalla pressione evolutiva a rilevare segnali di pericolo per aumentare le possibilità di sopravvivenza. Tuttavia, le origini ontogenetiche di queste abilità sociali sono ancora oggetto di dibattito. La presente tesi di dottorato si pone l'obiettivo di indagare la natura dell’informazione visiva che media la discriminazione delle emozioni e/o la percezione dell'affidabilità dai volti utilizzando l'approccio del filtraggio spaziale, ossia la rimozione selettiva di bande di frequenze spaziali contenute nell'immagine. Nello specifico, l’elaborato comprende 5 studi volti a indagare (1) la natura dell'informazione visiva sui cui si basano i giudizi espliciti di affidabilità degli adulti (Studio 1) (2) se la percezione di affidabilità di adulti (Studio 2) e bambini (Studio 3) è generalizzata a volti di un'etnia differente dalla propria e la natura dell'informazione visiva coinvolta, (3) la natura dell'informazione visiva che determina la discriminazione neurale di affidabilità dai volti nei preverbali (Studio 4), e (4) la natura dell'informazione visiva su cui si basa la discriminazione visiva delle emozioni alla nascita (Studio 5a e 5b). I risultati dello Studio 1 mostrano che sebbene sia le informazioni visive globali, veicolate dalle frequenze spaziali basse, che le informazioni visive locali, veicolate dalle frequenze spaziali alte, sono sufficienti per discriminare tra livelli di affidabilità, l'informazione globale gioca un ruolo cruciale. Gli Studi 2 e 3 estendono le considerazioni sulla natura dell'informazione visiva coinvolta nella percezione di affidabilità a volti meno presenti nell'ambiente sociale dell'individuo, One fundamental component of humans' social competence is the ability to rapidly and spontaneously extrapolate facial cues of emotion and trustworthiness - i.e., whether others are likely to approach us friendly or hostilely. The fast and automatic nature of these responses to facial configurations has led to the claim that they derive from evolutionary pressure to detect signals of potential harm, and distinguish between friends or foes to enhance our chances of survival. However, the ontogenetic origins of these fundamental social skills are still debated. To explore this question, the studies reported in this doctoral dissertation investigated the nature of the visual information driving emotion discrimination and/or trustworthiness perception across the life span using the spatial filtering approach - i.e., the selective removal of portions of the spatial frequencies (SF) information contained in the image. Specifically, this doctoral dissertation includes 5 studies aimed at investigating (1) the nature of the visual information on which adults' explicit judgments of trustworthiness are based (Study 1), (2) whether trustworthiness perception in adults (Study 2) and children (Study 3) generalizes across face-race and/or the nature of the visual information on which trustworthiness judgments are based differs for more versus less familiar face categories, (3) the nature of the visual information that triggers neural discrimination of facial cues to trustworthiness in preverbal infants (Study 4), and (4) the nature of the visual information that mediates visual discrimination of emotional facial expressions at birth (Study 5a and 5b). Results of Study 1 showed that, although both global visual cues, conveyed by low-spatial frequency bands, and local visual cues, conveyed by high-spatial frequency bands, are sufficient to discriminate between levels of trustworthiness, the selective removal of global information negatively impacts trustworthiness perception. Study 2

Published
2022

40. Multisession Anodal tDCS on the Right Temporo-Parietal Junction Improves Mentalizing Processes in Adults with Autistic Traits

Author

Padrón, I, García-Marco, E, Moreno, I, Birba, A, Silvestri, V, León, I, Álvarez, C, López, J, de Vega, M, Padrón, Iván, García-Marco, Enrique, Moreno, Iván, Birba, Agustina, Silvestri, Valentina, León, Inmaculada, Álvarez, Carlos, López, Joana, de Vega, Manuel, Padrón, I, García-Marco, E, Moreno, I, Birba, A, Silvestri, V, León, I, Álvarez, C, López, J, de Vega, M, Padrón, Iván, García-Marco, Enrique, Moreno, Iván, Birba, Agustina, Silvestri, Valentina, León, Inmaculada, Álvarez, Carlos, López, Joana, and de Vega, Manuel

Abstract

Persons with autism spectrum disorder (ASD) have impaired mentalizing skills. In this study, a group of persons with ASD traits (high-AQ scores) initially received sham tDCS before completing a pre-test in two mentalizing tasks: false belief and self-other judgments. Over the next week, on four consecutive days, they received sessions of anodal electrical stimulation (a-tDCS) over the right temporo-parietal junction (rTPJ), a region frequently associated with the theory of mind. On the last day, after the stimulation session, they completed a new set of mentalizing tasks. A control group (with low-AQ scores) matched in age, education and intelligence received just sham stimulation and completed the same pre-test and post-test. The results showed that the high-AQ group improved their performance (faster responses), after a-tDCS, in the false belief and in the self-other judgments of mental features, whereas they did not change performance in the false photographs or the self-other judgments of physical features. These selective improvements cannot be attributed to increased familiarity with the tasks, because the performance of the low-AQ control group remained stable about one week later. Therefore, our study provides initial proof that tDCS could be used to improve mentalizing skills in persons with ASD traits.

Published
2022

41. Face in collision: emotional looming stimuli modulate interpersonal space across development and gender

Author

Silvestri, V, Grassi, M, Nava, E, Silvestri, Valentina, Grassi, Massimo, Nava, Elena, Silvestri, V, Grassi, M, Nava, E, Silvestri, Valentina, Grassi, Massimo, and Nava, Elena

Abstract

Basic visual functions have evolved to allow for rapid detection of dynamic stimuli in our surrounding environment. In particular, looming stimuli are of relevance because they are expected to enter the individual’s interpersonal space representing a potential threat. Different studies showed that emotions can modulate the perception of visual looming stimuli and the borders of interpersonal space, defined as the area around the body that individuals maintain between themselves and others during social interactions. Here, we investigated how emotions modulate the perception and the physiological correlates of interpersonal space and whether such indexes change across age and gender. Children and adults were asked to quickly react to emotional looming stimuli while measuring their skin conductance response (SCR). We found that emotional looming stimuli shrink the borders of interpersonal space of males more than females, and that this pattern does not change with age. In addition, adults reacted faster to angry than happy and neutral faces, which is in line with the notion that threatening stimuli capture attention more quickly than other types of emotional stimuli. However, this was not observed in children, suggesting that experience with negative stimuli, rather than the evolutionary meaning they possess, may influence the boundaries of interpersonal space. Overall, our study suggests that interpersonal space is modulated by emotions, but this appears to be modulated by gender and age: while behavioural responses to emotional looming stimuli refine with age, physiological responses are adult-like as early as 5 years of age.

Published
2022

42. 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
Full Text
View/download PDF

47. Distribution of Interferon Lambda 4 Single Nucleotide Polymorphism rs11322783 Genotypes in Patients with COVID-19

Author

Sorrentino, Leonardo, primary, Silvestri, Valentina, additional, Oliveto, Giuseppe, additional, Scordio, Mirko, additional, Frasca, Federica, additional, Fracella, Matteo, additional, Bitossi, Camilla, additional, D’Auria, Alessandra, additional, Santinelli, Letizia, additional, Gabriele, Lucia, additional, Pierangeli, Alessandra, additional, Mastroianni, Claudio Maria, additional, d’Ettorre, Gabriella, additional, Antonelli, Guido, additional, Caruz, Antonio, additional, Ottini, Laura, additional, and Scagnolari, Carolina, additional

Published
2022
Full Text
View/download PDF

48. IL FONDO SLAVO DELLA BIBLIOTECA NAZIONALE CENTRALE DI ROMA.

Author

Silvestri, Valentina

Abstract

The essay presents the book and archival collections held at the National Central Library in Rome. The Slavic Fund represents the core of the most substantial and heterogeneous collection of Slavic texts, mainly Russian, in Italian libraries. The fund contains the following collections: the library of the Italy-Urss Association, the library and archive of the Russian Circle named N.V. Gogol', the library of Tommaso Napolitano, the archive and library of Giovanni Maver, the archive and library of Ettore Lo Gatto, and the library of Michele Colucci. The Slavic collection has a total size of about 60.000 volumes and more than 900 titles of periodicals; those are fundamental tools for the study in Italy of 20th-century Russian and Slavic history and culture. This essay also traces the sections of the exhibition "Mal di Russia amor di Roma. Libri russi e slavi della Biblioteca Nazionale," which was staged at the National Central Library in Rome from Oct. 23, 2006 to Jan. 5, 2007. Marina Battaglini conceived and designed this exhibition after a long work of rearranging and cataloging the various funds. This event opened for the first time the knowledge and appreciation of Russian and Slavic culture in Rome through books and archival documents. [ABSTRACT FROM AUTHOR]

Published
2023

50. 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

Catalog

Books, media, physical & digital resources
See catalog results