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3. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Author

O’Mahony, Denise G, Ramus, Susan J, Southey, Melissa C, Meagher, Nicola S, Hadjisavvas, Andreas, John, Esther M, Hamann, Ute, Imyanitov, Evgeny N, Andrulis, Irene L, Sharma, Priyanka, Daly, Mary B, Hake, Christopher R, Weitzel, Jeffrey N, Jakubowska, Anna, Godwin, Andrew K, Arason, Adalgeir, Bane, Anita, Simard, Jacques, Soucy, Penny, Caligo, Maria A, Mai, Phuong L, Claes, Kathleen BM, Teixeira, Manuel R, Chung, Wendy K, Lazaro, Conxi, Hulick, Peter J, Toland, Amanda E, Pedersen, Inge Sokilde, Neuhausen, Susan L, Vega, Ana, de la Hoya, Miguel, Nevanlinna, Heli, Dhawan, Mallika, Zampiga, Valentina, Danesi, Rita, Varesco, Liliana, Gismondi, Viviana, Vellone, Valerio Gaetano, James, Paul A, Janavicius, Ramunas, Nikitina-Zake, Liene, Nielsen, Finn Cilius, van Overeem Hansen, Thomas, Pejovic, Tanja, Borg, Ake, Rantala, Johanna, Offit, Kenneth, Montagna, Marco, Nathanson, Katherine L, Domchek, Susan M, Osorio, Ana, García, María J, Karlan, Beth Y, De Fazio, Anna, Bowtell, David, McGuffog, Lesley, Leslie, Goska, Parsons, Michael T, Dörk, Thilo, Speith, Lisa-Marie, dos Santos, Elizabeth Santana, da Costa, Alexandre André BA, Radice, Paolo, Peterlongo, Paolo, Papi, Laura, Engel, Christoph, Hahnen, Eric, Schmutzler, Rita K, Wappenschmidt, Barbara, Easton, Douglas F, Tischkowitz, Marc, Singer, Christian F, Tan, Yen Yen, Whittemore, Alice S, Sieh, Weiva, Brenton, James D, Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Soukupova, Jana, Vocka, Michal, Chenevix-Trench, Georgia, Pharoah, Paul DP, Antoniou, Antonis C, Goldgar, David E, Spurdle, Amanda B, and Michailidou, Kyriaki

Subjects
Biomedical and Clinical Sciences, Oncology and Carcinogenesis, Rare Diseases, Cancer, Breast Cancer, Genetics, Ovarian Cancer, Aetiology, 2.1 Biological and endogenous factors, Good Health and Well Being, Humans, Female, Virulence, BRCA1 Protein, BRCA2 Protein, Ovarian Neoplasms, Genetic Predisposition to Disease, Breast Neoplasms, HEBON Investigators, GEMO Study Collaborators, AOCS Group, CZECANCA Consortium, Consortium of Investigators of Modifiers of BRCA1/2, Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium, Public Health and Health Services, Oncology & Carcinogenesis, Oncology and carcinogenesis
Abstract

BackgroundThe distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.MethodsData for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong).ResultsNo histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis.ConclusionsWe provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.

Published
2023

8. Analyses of tumor microenvironment in patients with advanced renal cell carcinoma receiving immunotherapy (Meet-URO 18 study).

Author

Catalano, Fabio, Brunelli, Matteo, Signori, Alessio, Rescigno, Pasquale, Buti, Sebastiano, Galli, Luca, Spada, Massimiliano, Masini, Cristina, Galuppini, Francesca, Vellone, Valerio Gaetano, Gaggero, Gabriele, Maruzzo, Marco, Merler, Sara, Vignani, Francesca, Cavo, Alessia, Bimbatti, Davide, Milella, Michele, Dei Tos, Angelo Paolo, Sbaraglia, Marta, and Murianni, Veronica

Abstract

Introduction: The Meet-URO 18 study is a multicentric study of patients with metastatic renal cell carcinoma receiving nivolumab in the second-line and beyond, categorized as responders (progression-free survival ≥ 12 months) and non-responders (progression-free survival < 3 months). Areas covered: The current study includes extensive immunohistochemical analysis of T-lineage markers (CD3, CD4, CD8, CD8/CD4 ratio), macrophages (CD68), ph-mTOR, CD15 and CD56 expression on tumor cells, and PD-L1 expression, on an increased sample size including 161 tumor samples (113 patients) compared with preliminary presented data. Responders' tumor tissue (n = 90; 55.9%) was associated with lower CD4 expression (p = 0.014), higher CD56 expression (p = 0.046) and higher CD8/CD4 ratio (p = 0.030). Expert opinion/commentary: The present work suggests the regulatory role of a subpopulation of T cells on antitumor response and identifies CD56 as a putative biomarker of immunotherapy efficacy. There is a critical lack of predictive biomarkers for patients with metastatic renal cell carcinoma receiving immunotherapy, therefore the identification of patients likely to benefit from this treatment represents a pressing clinical challenge. The Meet-URO 18 study is a multicentric, retrospective, translational study that delves into the immune tumor microenvironment (I-TME) of patients with metastatic renal cell carcinoma receiving nivolumab in the second-line or beyond. Patients were categorized as responders (progression-free survival ≥ 12 months) and non-responders (progression-free survival < 3 months). Digital multitarget immunohistochemical analyses were performed on the I-TME of tumor samples of primary tumors or metastases. Primary analyses revealed that responders exhibited lower CD4 expression and higher levels of phosphorylated mTOR and CD56. Further extensive analysis of the I-TME focused on T-lineage markers (CD3, CD4, CD8, CD8/CD4 ratio), macrophages (CD68), ph-mTOR, CD15 and CD56 expression assessed on tumor cells, and PD-L1 expression (SP263) assessed on both tumor and immune cells. Responders tumor tissue showed significantly lower CD4 expression, higher CD56 expression and a higher CD8/CD4 ratio compared with non-responders. Other parameters, including PD-L1 expression, did not reach statistical significance. This secondary analysis highlights the emerging significance of CD56 as a putative biomarker for immunotherapy, suggesting a critical role for regulatory CD4+ cells over cytotoxic CD8+ cells. [ABSTRACT FROM AUTHOR]

Published
2024
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9. Nerve Sheath Myxoma in Pregnancy: A Case Report.

Author

De Chiara, Elena, Vellone, Valerio Gaetano, Ferro, Jacopo, Trambaiolo Antonelli, Chiara, Piro, Liliana, Avanzini, Stefano, Prono, Valentina, Beccaria, Andrea, Muraca, Monica, and Tallone, Ramona

Subjects
PERIPHERAL nerve tumors, SOFT tissue tumors, SKIN tumors, OPERATIVE ultrasonography, YOUNG adults
Abstract

Nerve sheath myxoma (NSM) is a rare benign peripheral nerve sheath tumor that affects young adults. NSMs are asymptomatic, slow-growing swellings located in the upper extremities, more rarely in the lower extremities. Given the high risk of recurrence, it is recommended to perform a complete exeresis. To our knowledge, the evolution and management of NMS during pregnancy have not been described yet. We report the first case of recurrent pretibial NSM in a pregnant girl and its follow-up and outcome during and after pregnancy. NSM is difficult to diagnose clinically or using imaging. The final diagnosis remains histopathological. It is known how various types of benign and malignant skin tumors can develop or change during pregnancy. With our case, however, we documented that pregnancy does not affect the growth and evolution of NSM. Given the benign nature of the lesions and their tendency to grow slowly, during pregnancy, follow-up of NSMs can be conducted through ultrasonography and surgical treatment postponed after delivery. Our case highlights the importance of careful monitoring and individualized decision making, especially in rare scenarios such as NSM, where data on the progression of benign lesions are limited. Our case highlights the importance of a careful monitoring and a tailored treatment in rare scenarios such as NSM, where data on the progression of benign lesions are limited. Considering the benign nature of the lesions and their tendency to grow slowly, follow-up of NSMs during pregnancy can be conducted through ultrasonography, and surgical treatment can be postponed after delivery. [ABSTRACT FROM AUTHOR]

Published
2024
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12. Frozen Section of Placental Membranes and Umbilical Cord: A Valid Diagnostic Tool for Early-Onset Neonatal Sepsis Management.

Author

Parrella, Veronica, Paudice, Michele, Pittaluga, Michela, Allodi, Alessandra, Fulcheri, Ezio, Buffelli, Francesca, Barra, Fabio, Ferrero, Simone, Arioni, Cesare, and Vellone, Valerio Gaetano

Subjects
NEONATAL sepsis, UMBILICAL cord, PLACENTA, TREATMENT delay (Medicine), RAPID tooling, CHORIOAMNIONITIS
Abstract

Early-onset neonatal sepsis (EONS), a serious infection in newborns within 3 days, is challenging to diagnose. The current methods often lack accuracy, leading to unnecessary antibiotics or delayed treatment. This study investigates the role of the frozen section examination of placental membranes and umbilical cord (FSMU) to improve EONS diagnosis in the daily lab practice. This retrospective study reviewed data from 59 neonates with EONS risk factors who underwent FSMU according to our institutional protocol. Concordance between the FSMU and the Final Pathological Report (FPR) was assessed. The FSMU demonstrated a high concordance (Kappa = 0.88) for funisitis diagnosis, with excellent accuracy (98.3%). A moderate concordance was observed for chorioamnionitis stage and grade. The FSMU shows promise as a rapid and accurate tool for diagnosing EONS, particularly for funisitis. This study suggests that the FSMU could be a valuable tool for EONS diagnosis, enabling a more judicious antibiotic use and potentially improving outcomes for newborns. [ABSTRACT FROM AUTHOR]

Published
2024
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13. The Advantages of Next-Generation Sequencing Molecular Classification in Endometrial Cancer Diagnosis

Author

Rivera, Daniela, primary, Paudice, Michele, additional, Accorsi, Giulia, additional, Valentino, Floriana, additional, Ingaliso, Marta, additional, Pianezzi, Ada, additional, Roggieri, Paola, additional, Trevisan, Lucia, additional, Buzzatti, Giulia, additional, Mammoliti, Serafina, additional, Barra, Fabio, additional, Ferrero, Simone, additional, Cirmena, Gabriella, additional, Gismondi, Viviana, additional, and Vellone, Valerio Gaetano, additional

Published
2023
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15. Bovine Papillomavirus Type 1 Infection in an Equine Congenital Papilloma

Author

Maggi, Raffaella, primary, De Paolis, Livia, additional, De Santis, Daria, additional, Vellone, Valerio Gaetano, additional, De Ciucis, Chiara Grazia, additional, Fruscione, Floriana, additional, Mazzocco, Katia, additional, Ghelardi, Alessandro, additional, Marruchella, Giuseppe, additional, and Razzuoli, Elisabetta, additional

Published
2023
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16. The Advantages of NGS Molecular Classification in Endometrial Cancer Diagnosis

Author

Rivera, Daniela, primary, Paudice, Michele, additional, Accorsi, Giulia, additional, Valentino, Floriana, additional, Ingaliso, Marta, additional, Pianezzi, Ada, additional, Roggieri, Paola, additional, Trevisan, Lucia, additional, Buzzatti, Giulia, additional, Mammoliti, Serafina, additional, Barra, Fabio, additional, Ferrero, Simone, additional, Cirmena, Gabriella, additional, Gismondi, Viviana, additional, and Vellone, Valerio Gaetano, additional

Published
2023
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17. Paediatric Spitzoid Neoplasms: 10-Year Retrospective Study Characterizing Histological, Clinical, Dermoscopic Presentation and FISH Test Results

Author

Herzum, Astrid, primary, Occella, Corrado, additional, Vellone, Valerio Gaetano, additional, Gariazzo, Lodovica, additional, Pastorino, Carlotta, additional, Ferro, Jacopo, additional, Sementa, Angela, additional, Mazzocco, Katia, additional, Vercellino, Nadia, additional, and Viglizzo, Gianmaria, additional

Published
2023
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18. Surgery for Fibroids in Infertile Women: The How, the When, and the When Not.

Author

Ferrero, Simone, Barra, Fabio, Evangelisti, Giulio, Paudice, Michele, and Vellone, Valerio Gaetano

Subjects
UTERINE surgery, INFERTILITY treatment, WOUND healing, MISCARRIAGE, UTERINE fibroids, LAPAROSCOPIC surgery, TREATMENT effectiveness, HYSTEROSCOPY, REPRODUCTIVE history, DISEASE complications
Abstract

Uterine fibroids may impact fertility and the outcomes of infertility treatments negatively, depending on the fibroids' positions in the uterine wall, their sizes, and their numbers. This article reviews the available data on managing uterine fibroids in infertile patients. Subserosal fibroids do not affect fertility negatively and generally do not require treatment. It is advisable to remove submucosal fibroids before infertility treatment or in patients who have recurrent miscarriages. It is challenging to counsel infertile women with intramural fibroids because of the lack of a consensus about what should be done. The choice of treating intramural fibroids depends on the characteristics of the fibroids (such as numbers, sizes, and distances from the endometrial cavity), the reproductive history of the patient, and her willingness to wait until the appropriate time for myometrial healing before receiving infertility treatments. (J GYNECOL SURG 40:4) [ABSTRACT FROM AUTHOR]

Published
2024
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20. Histopathological and Immunohistochemical Prognostic Factors in High-Grade Non-Endometrioid Carcinomas of the Endometrium (HG-NECs): Is It Possible to Identify Subgroups at Increased Risk?

Author

Paudice, Michele, primary, Biatta, Chiara Maria, additional, Scaglione, Giulia, additional, Parodi, Alessia, additional, Mammoliti, Serafina, additional, Moioli, Melita, additional, Centurioni, Maria Grazia, additional, Barra, Fabio, additional, Ferrero, Simone, additional, De Cian, Franco, additional, Mazzocco, Katia, additional, and Vellone, Valerio Gaetano, additional

Published
2023
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21. Characterization of Tumor and Immune Tumor Microenvironment of Primary Tumors and Metastatic Sites in Advanced Renal Cell Carcinoma Patients Based on Response to Nivolumab Immunotherapy: Preliminary Results from the Meet-URO 18 Study

Author

Rebuzzi, Sara Elena, primary, Brunelli, Matteo, additional, Galuppini, Francesca, additional, Vellone, Valerio Gaetano, additional, Signori, Alessio, additional, Catalano, Fabio, additional, Damassi, Alessandra, additional, Gaggero, Gabriele, additional, Rescigno, Pasquale, additional, Maruzzo, Marco, additional, Merler, Sara, additional, Vignani, Francesca, additional, Cavo, Alessia, additional, Basso, Umberto, additional, Milella, Michele, additional, Panepinto, Olimpia, additional, Mencoboni, Manlio, additional, Sbaraglia, Marta, additional, Dei Tos, Angelo Paolo, additional, Murianni, Veronica, additional, Cremante, Malvina, additional, Llaja Obispo, Miguel Angel, additional, Maffezzoli, Michele, additional, Banna, Giuseppe Luigi, additional, Buti, Sebastiano, additional, and Fornarini, Giuseppe, additional

Published
2023
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22. Abstract 3407: The italian personalized medicine program PREME for high-risk neuroblastoma

Author

Capasso, Mario, primary, Brignole, Chiara, additional, Bensa, Veronica, additional, Lasorsa, Vito Alessandro, additional, Sebastiani, Enrico, additional, Cantalupo, Sueva, additional, Sementa, Angela Rita, additional, Mazzocco, Katia, additional, Cafferata, Barbara, additional, Vellone, Valerio Gaetano, additional, Cilli, Michele, additional, Calarco, Enzo, additional, Giusto, Elena, additional, Ciampi, Eleonora, additional, Perri, Patrizia, additional, Corrias, Maria Valeria, additional, Aveic, Sanja, additional, Fruci, Doriana, additional, Quattrone, Alessandro, additional, Tondo, Annalisa, additional, Luksch, Roberto, additional, Mura, Rossella, additional, Rabusin, Marco, additional, De Leonardis, Francesco, additional, Cellini, Monica, additional, Coccia, Paola, additional, Conte, Massimo, additional, Amoroso, Loredana, additional, Garaventa, Alberto, additional, Ponzoni, Mirco, additional, and Pastorino, Fabio, additional

Published
2023
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23. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2.

Author

O'Mahony, Denise G, O'Mahony, Denise G, Ramus, Susan J, Southey, Melissa C, Meagher, Nicola S, Hadjisavvas, Andreas, John, Esther M, Hamann, Ute, Imyanitov, Evgeny N, Andrulis, Irene L, Sharma, Priyanka, Daly, Mary B, Hake, Christopher R, Weitzel, Jeffrey N, Jakubowska, Anna, Godwin, Andrew K, Arason, Adalgeir, Bane, Anita, Simard, Jacques, Soucy, Penny, Caligo, Maria A, Mai, Phuong L, Claes, Kathleen BM, Teixeira, Manuel R, Chung, Wendy K, Lazaro, Conxi, Hulick, Peter J, Toland, Amanda E, Pedersen, Inge Sokilde, HEBON Investigators, Neuhausen, Susan L, Vega, Ana, de la Hoya, Miguel, Nevanlinna, Heli, Dhawan, Mallika, Zampiga, Valentina, Danesi, Rita, Varesco, Liliana, Gismondi, Viviana, Vellone, Valerio Gaetano, James, Paul A, Janavicius, Ramunas, Nikitina-Zake, Liene, Nielsen, Finn Cilius, van Overeem Hansen, Thomas, Pejovic, Tanja, Borg, Ake, Rantala, Johanna, Offit, Kenneth, Montagna, Marco, Nathanson, Katherine L, Domchek, Susan M, Osorio, Ana, García, María J, Karlan, Beth Y, GEMO Study Collaborators, De Fazio, Anna, Bowtell, David, AOCS Group, McGuffog, Lesley, Leslie, Goska, Parsons, Michael T, Dörk, Thilo, Speith, Lisa-Marie, Dos Santos, Elizabeth Santana, da Costa, Alexandre André BA, Radice, Paolo, Peterlongo, Paolo, Papi, Laura, Engel, Christoph, Hahnen, Eric, Schmutzler, Rita K, Wappenschmidt, Barbara, Easton, Douglas F, Tischkowitz, Marc, Singer, Christian F, Tan, Yen Yen, Whittemore, Alice S, Sieh, Weiva, Brenton, James D, Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Soukupova, Jana, Vocka, Michal, CZECANCA Consortium, Chenevix-Trench, Georgia, Pharoah, Paul DP, Antoniou, Antonis C, Goldgar, David E, Spurdle, Amanda B, Michailidou, Kyriaki, Consortium of Investigators of Modifiers of BRCA1/2, Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium, O'Mahony, Denise G, O'Mahony, Denise G, Ramus, Susan J, Southey, Melissa C, Meagher, Nicola S, Hadjisavvas, Andreas, John, Esther M, Hamann, Ute, Imyanitov, Evgeny N, Andrulis, Irene L, Sharma, Priyanka, Daly, Mary B, Hake, Christopher R, Weitzel, Jeffrey N, Jakubowska, Anna, Godwin, Andrew K, Arason, Adalgeir, Bane, Anita, Simard, Jacques, Soucy, Penny, Caligo, Maria A, Mai, Phuong L, Claes, Kathleen BM, Teixeira, Manuel R, Chung, Wendy K, Lazaro, Conxi, Hulick, Peter J, Toland, Amanda E, Pedersen, Inge Sokilde, HEBON Investigators, Neuhausen, Susan L, Vega, Ana, de la Hoya, Miguel, Nevanlinna, Heli, Dhawan, Mallika, Zampiga, Valentina, Danesi, Rita, Varesco, Liliana, Gismondi, Viviana, Vellone, Valerio Gaetano, James, Paul A, Janavicius, Ramunas, Nikitina-Zake, Liene, Nielsen, Finn Cilius, van Overeem Hansen, Thomas, Pejovic, Tanja, Borg, Ake, Rantala, Johanna, Offit, Kenneth, Montagna, Marco, Nathanson, Katherine L, Domchek, Susan M, Osorio, Ana, García, María J, Karlan, Beth Y, GEMO Study Collaborators, De Fazio, Anna, Bowtell, David, AOCS Group, McGuffog, Lesley, Leslie, Goska, Parsons, Michael T, Dörk, Thilo, Speith, Lisa-Marie, Dos Santos, Elizabeth Santana, da Costa, Alexandre André BA, Radice, Paolo, Peterlongo, Paolo, Papi, Laura, Engel, Christoph, Hahnen, Eric, Schmutzler, Rita K, Wappenschmidt, Barbara, Easton, Douglas F, Tischkowitz, Marc, Singer, Christian F, Tan, Yen Yen, Whittemore, Alice S, Sieh, Weiva, Brenton, James D, Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Soukupova, Jana, Vocka, Michal, CZECANCA Consortium, Chenevix-Trench, Georgia, Pharoah, Paul DP, Antoniou, Antonis C, Goldgar, David E, Spurdle, Amanda B, Michailidou, Kyriaki, Consortium of Investigators of Modifiers of BRCA1/2, and Evidence-based Network for the Interpretation of Germline Mutant Alleles Consortium

Abstract

BackgroundThe distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.MethodsData for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong).ResultsNo histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis.ConclusionsWe provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.

Published
2023

24. Ovarian cancer pathology characteristics as predictors of variant pathogenicity in BRCA1 and BRCA2

Author

O’Mahony, Denise G., Ramus, Susan J., Southey, Melissa C., Meagher, Nicola S., Hadjisavvas, Andreas, John, Esther M., Hamann, Ute, Imyanitov, Evgeny N., Andrulis, Irene L., Sharma, Priyanka, Daly, Mary B., Hake, Christopher R., Weitzel, Jeffrey N., Jakubowska, Anna, Godwin, Andrew K., Arason, Adalgeir, Bane, Anita, Simard, Jacques, Soucy, Penny, Caligo, Maria A., Mai, Phuong L., Claes, Kathleen B.M., Teixeira, Manuel R., Chung, Wendy K., Lazaro, Conxi, Hulick, Peter J., Toland, Amanda E., Pedersen, Inge Sokilde, Mourits, Marian J.E., Neuhausen, Susan L., Vega, Ana, de la Hoya, Miguel, Nevanlinna, Heli, Dhawan, Mallika, Zampiga, Valentina, Danesi, Rita, Varesco, Liliana, Gismondi, Viviana, Vellone, Valerio Gaetano, James, Paul A., Janavicius, Ramunas, Nikitina-Zake, Liene, Nielsen, Finn Cilius, van Overeem Hansen, Thomas, Pejovic, Tanja, Borg, Ake, Rantala, Johanna, Offit, Kenneth, Montagna, Marco, Nathanson, Katherine L., Domchek, Susan M., Osorio, Ana, García, María J., Karlan, Beth Y., Lesueur, Fabienne, De Fazio, Anna, Bowtell, David, McGuffog, Lesley, Leslie, Goska, Parsons, Michael T., Dörk, Thilo, Speith, Lisa Marie, dos Santos, Elizabeth Santana, da Costa, Alexandre André B.A., Radice, Paolo, Peterlongo, Paolo, Papi, Laura, Engel, Christoph, Hahnen, Eric, Schmutzler, Rita K., Wappenschmidt, Barbara, Easton, Douglas F., Tischkowitz, Marc, Singer, Christian F., Tan, Yen Yen, Whittemore, Alice S., Sieh, Weiva, Brenton, James D., Yannoukakos, Drakoulis, Fostira, Florentia, Konstantopoulou, Irene, Soukupova, Jana, Vocka, Michal, Chenevix-Trench, Georgia, Pharoah, Paul D.P., Antoniou, Antonis C., Goldgar, David E., Spurdle, Amanda B., Michailidou, Kyriaki, O'Mahony, Denise G [0000-0002-7212-0920], Ramus, Susan J [0000-0003-0005-7798], Meagher, Nicola S [0000-0001-9134-2118], Andrulis, Irene L [0000-0002-4226-6435], Weitzel, Jeffrey N [0000-0001-6714-092X], Jakubowska, Anna [0000-0002-5650-0501], Godwin, Andrew K [0000-0002-3987-9580], Arason, Adalgeir [0000-0003-0480-886X], Simard, Jacques [0000-0001-6906-3390], Teixeira, Manuel R [0000-0002-4896-5982], Chung, Wendy K [0000-0003-3438-5685], Hulick, Peter J [0000-0001-8397-4078], Toland, Amanda E [0000-0002-0271-1792], Pedersen, Inge Sokilde [0000-0002-9902-8040], Neuhausen, Susan L [0000-0001-5053-0390], Vega, Ana [0000-0002-7416-5137], de la Hoya, Miguel [0000-0002-8113-1410], Nevanlinna, Heli [0000-0002-0916-2976], Nathanson, Katherine L [0000-0002-6740-0901], Osorio, Ana [0000-0001-8124-3984], García, María J [0000-0002-2236-9912], Karlan, Beth Y [0000-0002-9451-2933], De Fazio, Anna [0000-0003-0057-4744], Leslie, Goska [0000-0001-5756-6222], Dörk, Thilo [0000-0002-9458-0282], Peterlongo, Paolo [0000-0001-6951-6855], Easton, Douglas F [0000-0003-2444-3247], Singer, Christian F [0000-0003-1294-0027], Sieh, Weiva [0000-0003-0085-1190], Brenton, James D [0000-0002-5738-6683], Konstantopoulou, Irene [0000-0002-0470-0309], Soukupova, Jana [0000-0003-2413-1542], Vocka, Michal [0000-0002-9386-657X], Pharoah, Paul DP [0000-0001-8494-732X], Spurdle, Amanda B [0000-0003-1337-7897], Michailidou, Kyriaki [0000-0001-7065-1237], and Apollo - University of Cambridge Repository

Subjects
BRCA2 Protein, Ovarian Neoplasms, Virulence, BRCA1 Protein, Humans, Female, Genetic Predisposition to Disease, Breast Neoplasms
Abstract

Background: The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.Methods: Data for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong).Results: No histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis.Conclusions: We provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management. Background: The distribution of ovarian tumour characteristics differs between germline BRCA1 and BRCA2 pathogenic variant carriers and non-carriers. In this study, we assessed the utility of ovarian tumour characteristics as predictors of BRCA1 and BRCA2 variant pathogenicity, for application using the American College of Medical Genetics and the Association for Molecular Pathology (ACMG/AMP) variant classification system.Methods: Data for 10,373 ovarian cancer cases, including carriers and non-carriers of BRCA1 or BRCA2 pathogenic variants, were collected from unpublished international cohorts and consortia and published studies. Likelihood ratios (LR) were calculated for the association of ovarian cancer histology and other characteristics, with BRCA1 and BRCA2 variant pathogenicity. Estimates were aligned to ACMG/AMP code strengths (supporting, moderate, strong).Results: No histological subtype provided informative ACMG/AMP evidence in favour of BRCA1 and BRCA2 variant pathogenicity. Evidence against variant pathogenicity was estimated for the mucinous and clear cell histologies (supporting) and borderline cases (moderate). Refined associations are provided according to tumour grade, invasion and age at diagnosis.Conclusions: We provide detailed estimates for predicting BRCA1 and BRCA2 variant pathogenicity based on ovarian tumour characteristics. This evidence can be combined with other variant information under the ACMG/AMP classification system, to improve classification and carrier clinical management.

Published
2023
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27. Pyrosequencing Assay for BRCA1 Methylation Analysis

Author

Sahnane, Nora, primary, Rivera, Daniela, additional, Libera, Laura, additional, Carnevali, Ileana, additional, Banelli, Barbara, additional, Facchi, Sofia, additional, Gismondi, Viviana, additional, Paudice, Michele, additional, Cirmena, Gabriella, additional, Vellone, Valerio Gaetano, additional, Sessa, Fausto, additional, Varesco, Liliana, additional, and Tibiletti, Maria Grazia, additional

Published
2023
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28. Lichen striatus after COVID-19

Author

Herzum, Astrid, primary, Viglizzo, Gianmaria, additional, Gariazzo, Lodovica, additional, Ferro, Jacopo, additional, Vellone, Valerio Gaetano, additional, and Occella, Corrado, additional

Published
2022
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29. Validation of a Novel Three-Dimensional (3D Fusion) Gross Sampling Protocol for Clear Cell Renal Cell Carcinoma to Overcome Intratumoral Heterogeneity: The Meet-Uro 18 Study

Author

Brunelli, Matteo, primary, Martignoni, Guido, additional, Malpeli, Giorgio, additional, Volpe, Alessandro, additional, Cima, Luca, additional, Raspollini, Maria Rosaria, additional, Barbareschi, Mattia, additional, Tafuri, Alessandro, additional, Masi, Giulia, additional, Barzon, Luisa, additional, Ammendola, Serena, additional, Villanova, Manuela, additional, Cerruto, Maria Angela, additional, Milella, Michele, additional, Buti, Sebastiano, additional, Bersanelli, Melissa, additional, Fornarini, Giuseppe, additional, Rebuzzi, Sara Elena, additional, Vellone, Valerio Gaetano, additional, Gaggero, Gabriele, additional, Procopio, Giuseppe, additional, Verzoni, Elena, additional, Bracarda, Sergio, additional, Fanelli, Martina, additional, Sabbatini, Roberto, additional, Passalacqua, Rodolfo, additional, Perrucci, Bruno, additional, Giganti, Maria Olga, additional, Donini, Maddalena, additional, Panni, Stefano, additional, Tucci, Marcello, additional, Prati, Veronica, additional, Ortega, Cinzia, additional, Caliò, Anna, additional, Eccher, Albino, additional, Alongi, Filippo, additional, Pappagallo, Giovanni, additional, Iacovelli, Roberto, additional, Mosca, Alessandra, additional, Umari, Paolo, additional, Montagnani, Ilaria, additional, Gobbo, Stefano, additional, Atzori, Francesco, additional, Munari, Enrico, additional, Maruzzo, Marco, additional, Basso, Umberto, additional, Pierconti, Francesco, additional, Patriarca, Carlo, additional, Colombo, Piergiuseppe, additional, Lapini, Alberto, additional, Conti, Giario, additional, Salvioni, Roberto, additional, Bollito, Enrico, additional, Cossarizza, Andrea, additional, Massari, Francesco, additional, Rizzo, Mimma, additional, Franco, Renato, additional, Zito-Marino, Federica, additional, Aberasturi Plata, Yoseba, additional, Galuppini, Francesca, additional, Sbaraglia, Marta, additional, Fassan, Matteo, additional, Dei Tos, Angelo Paolo, additional, Colecchia, Maurizio, additional, Moch, Holger, additional, Scaltriti, Maurizio, additional, Porta, Camillo, additional, Delahunt, Brett, additional, Giannarini, Gianluca, additional, Bortolus, Roberto, additional, Rescigno, Pasquale, additional, Banna, Giuseppe Luigi, additional, Signori, Alessio, additional, Obispo, Miguel Angel Llaja, additional, Perris, Roberto, additional, and Antonelli, Alessandro, additional

Published
2022
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31. Development of a hoRizontal data intEgration classifier for NOn-invasive early diAgnosis of breasT cancEr: the RENOVATE study protocol

Author

Ravera, Francesco, primary, Cirmena, Gabriella, additional, Dameri, Martina, additional, Gallo, Maurizio, additional, Vellone, Valerio Gaetano, additional, Fregatti, Piero, additional, Friedman, Daniele, additional, Calabrese, Massimo, additional, Ballestrero, Alberto, additional, Tagliafico, Alberto, additional, Ferrando, Lorenzo, additional, and Zoppoli, Gabriele, additional

Published
2021
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37. Feasibility of multiple immunoexpression assay for immune tumor micrornvironment (I-TME) on matched metastatic and primary renal cell carcinoma (RCC) for patient prognostication and predictiveness to immunotherapy (preliminary analyses of the Meet URO 18 study).

Author

Brunelli, Matteo, primary, Rebuzzi, Sara Elena, additional, Vellone, Valerio Gaetano, additional, Sbaraglia, Marta, additional, Gaggero, Gabriele, additional, Fassan, Matteo, additional, Maruzzo, Marco, additional, Basso, Umberto, additional, Bersanelli, Melissa, additional, Damassi, Alessandra, additional, Martelli, Valentino, additional, Catalano, Fabio, additional, Pierantoni, Francesco, additional, Casartelli, Chiara, additional, Merler, Sara, additional, Businello, Gianluca, additional, Milella, Michele, additional, Buti, Sebastiano, additional, and Fornarini, Giuseppe, additional

Published
2021
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38. Fusion 3D gross sampling method to overcome heterogeneity in clear cell renal cell carcinoma (ccRCC) and grading angiogenic versus immune signatures.

Author

Brunelli, Matteo, primary, Rebuzzi, Sara Elena, additional, Vellone, Valerio Gaetano, additional, Gaggero, Gabriele, additional, Sbaraglia, Marta, additional, Fassan, Matteo, additional, Tafuri, Alessandro, additional, Maruzzo, Marco, additional, Bimbatti, Davide, additional, Bersanelli, Melissa, additional, Porta, Camillo, additional, Martignoni, Guido, additional, Antonelli, Alessandro, additional, Milella, Michele, additional, Buti, Sebastiano, additional, and Fornarini, Giuseppe, additional

Published
2021
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42. New Insights into Endometrial Cancer

Author

Paleari, Laura, primary, Pesce, Silvia, additional, Rutigliani, Mariangela, additional, Greppi, Marco, additional, Obino, Valentina, additional, Gorlero, Franco, additional, Vellone, Valerio Gaetano, additional, and Marcenaro, Emanuela, additional

Published
2021
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43. Evidence, evolution and pattern of contractile elements in villous vascular walls and stroma of human placentas of premature infants of different gestational ages. An immuno-morphologic comparative study

Author

Vellone, Valerio Gaetano, primary, Paudice, Michele, additional, Bianchi, Rita, additional, Scaglione, Giulia, additional, Biatta, Chiara Maria, additional, Buffi, Davide, additional, Buffelli, Francesca, additional, Barra, Fabio, additional, Ferrero, Simone, additional, and Fulcheri, Ezio, additional

Published
2021
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44. Efficacy and safety of prolonged-release hyaluronic acid derivative vaginal application in the postpartum period: a prospective randomised clinical trial

Author

Gustavino, Claudio, primary, Sala, Paolo, additional, Cusini, Nadia, additional, Gravina, Brunella, additional, Ronzini, Cecilia, additional, Marcolin, Diletta, additional, Vellone, Valerio Gaetano, additional, Paudice, Michele, additional, Nappi, Rossella, additional, Costantini, Sergio, additional, Ferrero, Simone, additional, and Barra, Fabio, additional

Published
2021
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45. MDM2 gene amplification as selection tool for innovative targeted approaches in PD-L1 positive or negative muscle-invasive urothelial bladder carcinoma

Author

Brunelli, Matteo, primary, Tafuri, Alessandro, additional, Cima, Luca, additional, Cerruto, Maria Angela, additional, Milella, Michele, additional, Zivi, Andrea, additional, Buti, Sebastiano, additional, Bersanelli, Melissa, additional, Fornarini, Giuseppe, additional, Vellone, Valerio Gaetano, additional, Rebuzzi, Sara Elena, additional, Procopio, Giuseppe, additional, Verzoni, Elena, additional, Bracarda, Sergio, additional, Sabbatini, Roberto, additional, Baldessari, Cinzia, additional, Eccher, Albino, additional, Passalacqua, Rodolfo, additional, Perrucci, Bruno, additional, Giganti, Maria Olga, additional, Donini, Maddalena, additional, Panni, Stefano, additional, Tucci, Marcello, additional, Prati, Veronica, additional, Ortega, Cinzia, additional, Caliò, Anna, additional, Alongi, Filippo, additional, Munari, Enrico, additional, Pappagallo, Giovanni, additional, Iacovelli, Roberto, additional, Mosca, Alessandra, additional, Porta, Camillo, additional, Martignoni, Guido, additional, and Antonelli, Alessandro, additional

Published
2020
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