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29 results on '"Cossu, Antonio"'

1. Sequential immunotherapy and targeted therapy for metastatic BRAF V600 mutated melanoma: 4-year survival and biomarkers evaluation from the phase II SECOMBIT trial

Author

Ascierto, Paolo A., primary, Casula, Milena, additional, Bulgarelli, Jenny, additional, Pisano, Marina, additional, Piccinini, Claudia, additional, Piccin, Luisa, additional, Cossu, Antonio, additional, Mandalà, Mario, additional, Ferrucci, Pier Francesco, additional, Guidoboni, Massimo, additional, Rutkowski, Piotr, additional, Ferraresi, Virginia, additional, Arance, Ana, additional, Guida, Michele, additional, Maiello, Evaristo, additional, Gogas, Helen, additional, Richtig, Erika, additional, Fierro, Maria Teresa, additional, Lebbe, Celeste, additional, Helgadottir, Hildur, additional, Queirolo, Paola, additional, Spagnolo, Francesco, additional, Tucci, Marco, additional, Del Vecchio, Michele, additional, Cao, Maria Gonzales, additional, Minisini, Alessandro Marco, additional, De Placido, Sabino, additional, Sanmamed, Miguel F., additional, Mallardo, Domenico, additional, Paone, Miriam, additional, Vitale, Maria Grazia, additional, Melero, Ignacio, additional, Grimaldi, Antonio M., additional, Giannarelli, Diana, additional, Dummer, Reinhard, additional, Sileni, Vanna Chiarion, additional, and Palmieri, Giuseppe, additional

Published
2024
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3. Red Blood Cell Distribution Width (RDW) Correlates to the Anatomical Location of Colorectal Cancer. Implications for Clinical Use

Author

Fancellu, Alessandro, primary, Zinellu, Angelo, additional, Mangoni, Arduino Aleksander, additional, Popova, Anastasia, additional, Galotti, Francesca, additional, Feo, Claudio Francesco, additional, Attene, Federico, additional, Cossu, Antonio, additional, Palmieri, Giuseppe, additional, and Paliogiannis, Panagiotis, additional

Published
2021
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5. Rectal involvement in pre-early T acute lymphoblastic leukemia

Author

Massaiu, Roberto, primary, Longu, Francesco, additional, Podda, Luigi, additional, Mura, Francesca, additional, Caocci, Giovanni, additional, La Nasa, Giorgio, additional, Fara, Antonella Maria, additional, Deiana, Angelo, additional, Cossu, Antonio Giuseppe Maria, additional, Crivelli, Paola, additional, Conti, Maurizio, additional, Pala, Carlo, additional, Carboni, Luca, additional, Scognamillo, Fabrizio, additional, and Fozza, Claudio, additional

Published
2020
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6. Germline and somatic mutations in patients with multiple primary melanomas: a next generation sequencing study

Author

Casula, Milena, Paliogiannis, Panagiotis, Ayala, Fabrizio, De Giorgi, Vincenzo, Stanganelli, Ignazio, Mandala, Mario, Colombino, Maria, Manca, Antonella, Sini, Maria Cristina, Caraco, Corrado, Ascierto, Paolo Antonio, Satta, Rosanna Rita, Dedola, Maria Filomena, Denti, Salvatore, Fedeli, Maria Antonietta, Montesu, Maria Antonietta, Profili, Stefano, Scotto, Tiziana, Sini, Germana, Tanda, Francesco, Lissia, Amelia, Cossu, Antonio, Palmieri, Giuseppe, Ghiorzo, Paola, Queirolo, Paola, Quaglino, Pietro, Botti, Gerardo, Sileni, Vanna Chiarion, and Di Giacomo, Anna Maria

Subjects
Male, 0301 basic medicine, Neuroblastoma RAS viral oncogene homolog, Cancer Research, Skin Neoplasms, Carcinogenesis, Somatic cell, medicine.disease_cause, Germline, Neoplasms, Multiple Primary, 0302 clinical medicine, Gene Frequency, Multiple Primary, CDKN2A, Neoplasms, Gene duplication, Melanoma, Skin, Cancer, Genetics, BAP1, High-Throughput Nucleotide Sequencing, Middle Aged, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 3. Good health, Italy, Oncology, NGS, 030220 oncology & carcinogenesis, BRAF, Mutations, Adult, Aged, Cyclin-Dependent Kinase Inhibitor p16, Female, Follow-Up Studies, Gene Amplification, Genetic Loci, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Tumor Suppressor Proteins, Ubiquitin Thiolesterase, Research Article, Biology, lcsh:RC254-282, 03 medical and health sciences, Germline mutation, medicine, 030104 developmental biology
Abstract

Introduction Multiple primary melanomas (MPM) occur up to 8% of patients with cutaneous malignant melanoma (CMM). They are often sporadic harbouring several somatic mutations, but also familial cases harbouring a CDKN2A germline mutation have been describe in Caucasian populations. The aim of this study was to investigate the incidence, the distribution patterns and the impact of known and unknown germline and somatic mutations in patients with MPM from Italy. Materials and methods One-hundred and two MPM patients were enrolled for germline mutation analysis, and five patients with at least four MPMs were identified for somatic mutation analysis. The demographic, pathologic and clinical features were retrieved from medical records. Molecular analysis for both germline and somatic mutations was performed in genomic DNA from peripheral blood and tissue samples, respectively, through a next generation sequencing approach, using a specific multiple-gene panel constructed by the Italian Melanoma Intergroup for somatic analysis and a commercial cancer hotspot panel for somatic analysis. Results CDKN2A mutations were detected in 6/16 (37.5%) and 3/86 (3.5%) MPM cases with and without family history for melanoma, respectively. Furthermore, multiple MC1R and, to a lesser extent, ATM variants have been identified. BAP1 variants were found only in MPM patients from southern Italy. The most frequent somatic variants were the pathogenic BRAFV600E and TP53, followed by KIT, PIK3CA, KDR, and NRAS. Single APC, ERBB4, MET, JAK3 and other variants with unknown function were also detected. Conclusions CDNK2A mutation is the most relevant susceptibility mutation in Italian patients with MPM, especially those with a family history for CMM. The prevalence of this mutation and other sequence variants identified in this study varies among specific sub-populations. Furthermore, some heterogeneity in driver somatic mutations between sporadic MPMs has been observed, as well as in a number of associated sequence variants the clinical impact of which needs to be further elucidated. Electronic supplementary material The online version of this article (10.1186/s12885-019-5984-7) contains supplementary material, which is available to authorized users.

Published
2019
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7. Efficacy of MEK inhibition in a K-Ras-driven cholangiocarcinoma preclinical model

Author

Dong, Mingjie, primary, Liu, Xianqiong, additional, Evert, Katja, additional, Utpatel, Kirsten, additional, Peters, Michele, additional, Zhang, Shanshan, additional, Xu, Zhong, additional, Che, Li, additional, Cigliano, Antonio, additional, Ribback, Silvia, additional, Dombrowski, Frank, additional, Cossu, Antonio, additional, Gordan, John, additional, Calvisi, Diego F., additional, Evert, Matthias, additional, Liu, Yan, additional, and Chen, Xin, additional

Published
2018
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8. Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

Author

Palomba, Grazia, Loi, Angela, Porcu, Eleonora, Cossu, Antonio, Zara, Ilenia, Budroni, Mario, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Olmeo, Nina, Ionta, Maria Teresa, Atzori, Francesco, Cuccuru, Gianmauro, Pitzalis, Maristella, Zoledziewska, Magdalena, Olla, Nazario, Lovicu, Mario, Pisano, Marina, Abecasis, Gonçalo R, Uda, Manuela, Tanda, Francesco, Michailidou, Kyriaki, Easton, Douglas F, Chanock, Stephen J, Hoover, Robert N, Hunter, David J, Schlessinger, David, Sanna, Serena, Crisponi, Laura, and Palmieri, Giuseppe

Subjects
Genes, BRCA2, Genes, BRCA1, High Mobility Group Proteins, Breast Neoplasms, Penetrance, Polymorphism, Single Nucleotide, Italy, Genetic Loci, Case-Control Studies, Trans-Activators, Humans, Female, Genetic Predisposition to Disease, Receptor, Fibroblast Growth Factor, Type 2, Apoptosis Regulatory Proteins, Receptors, Progesterone, Genome-Wide Association Study
Abstract

BACKGROUND: Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles. METHODS: We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500 K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs. RESULTS: Overall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p < 0(-6) level. Twenty of these regions contained defined genes, including one already associated with breast cancer risk: TOX3. With a lower threshold for preliminary significance to p < 10(-5), we identified 11 additional SNPs in FGFR2, a well-established breast cancer-associated gene. Ten candidate SNPs were selected, excluding those already associated with breast cancer, for technical validation as well as replication in 1668 samples from the same population. Only SNP rs345299, located in intron 1 of VAV3, remained suggestively associated (p-value, 1.16 x 10(-5)), but it did not associate with breast cancer risk in pooled data from two large, mixed-population cohorts. CONCLUSIONS: This study indicated the role of TOX3 and FGFR2 as breast cancer susceptibility genes in BRCA1/2-wild-type breast cancer patients from Sardinian population.

Published
2016
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10. Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

Author

Palomba, Grazia, Loi, Angela, Porcu, Eleonora, Cossu, Antonio, Zara, Ilenia, Budroni, Mario, Dei, Mariano, Lai, Sandra, Mulas, Antonella, Olmeo, Nina, Ionta, Maria Teresa, Atzori, Francesco, Cuccuru, Gianmauro, Pitzalis, Maristella, Zoledziewska, Magdalena, Olla, Nazario, Lovicu, Mario, Pisano, Marina, Abecasis, Gonçalo R, Uda, Manuela, Tanda, Francesco, Michailidou, Kyriaki, Easton, Douglas F, Chanock, Stephen J, Hoover, Robert N, Hunter, David J, Schlessinger, David, Sanna, Serena, Crisponi, Laura, Palmieri, Giuseppe, and Apollo - University of Cambridge Repository

Subjects
Genes, BRCA2, Genes, BRCA1, High Mobility Group Proteins, Breast Neoplasms, Penetrance, Polymorphism, Single Nucleotide, Italy, Genetic Loci, Case-Control Studies, Trans-Activators, Humans, Female, Genetic Predisposition to Disease, Receptor, Fibroblast Growth Factor, Type 2, Apoptosis Regulatory Proteins, Receptors, Progesterone, Genome-Wide Association Study
Abstract

BACKGROUND: Despite progress in identifying genes associated with breast cancer, many more risk loci exist. Genome-wide association analyses in genetically-homogeneous populations, such as that of Sardinia (Italy), could represent an additional approach to detect low penetrance alleles. METHODS: We performed a genome-wide association study comparing 1431 Sardinian patients with non-familial, BRCA1/2-mutation-negative breast cancer to 2171 healthy Sardinian blood donors. DNA was genotyped using GeneChip Human Mapping 500 K Arrays or Genome-Wide Human SNP Arrays 6.0. To increase genomic coverage, genotypes of additional SNPs were imputed using data from HapMap Phase II. After quality control filtering of genotype data, 1367 cases (9 men) and 1658 controls (1156 men) were analyzed on a total of 2,067,645 SNPs. RESULTS: Overall, 33 genomic regions (67 candidate SNPs) were associated with breast cancer risk at the p

Published
2015

11. Prognostic impact of KRAS, NRAS, BRAF, and PIK3CA mutations in primary colorectal carcinomas: a population-based study

Author

Palomba, Grazia, primary, Doneddu, Valentina, additional, Cossu, Antonio, additional, Paliogiannis, Panagiotis, additional, Manca, Antonella, additional, Casula, Milena, additional, Colombino, Maria, additional, Lanzillo, Annamaria, additional, Defraia, Efisio, additional, Pazzola, Antonio, additional, Sanna, Giovanni, additional, Putzu, Carlo, additional, Ortu, Salvatore, additional, Scartozzi, Mario, additional, Ionta, Maria Teresa, additional, Baldino, Giovanni, additional, Sarobba, Giuseppina, additional, Capelli, Francesca, additional, Sedda, Tito, additional, Virdis, Luciano, additional, Barca, Michela, additional, Gramignano, Giulia, additional, Budroni, Mario, additional, Tanda, Francesco, additional, and Palmieri, Giuseppe, additional

Published
2016
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12. Genome-wide association study of susceptibility loci for breast cancer in Sardinian population

Author

Palomba, Grazia, primary, Loi, Angela, additional, Porcu, Eleonora, additional, Cossu, Antonio, additional, Zara, Ilenia, additional, Budroni, Mario, additional, Dei, Mariano, additional, Lai, Sandra, additional, Mulas, Antonella, additional, Olmeo, Nina, additional, Ionta, Maria Teresa, additional, Atzori, Francesco, additional, Cuccuru, Gianmauro, additional, Pitzalis, Maristella, additional, Zoledziewska, Magdalena, additional, Olla, Nazario, additional, Lovicu, Mario, additional, Pisano, Marina, additional, Abecasis, Gonçalo R., additional, Uda, Manuela, additional, Tanda, Francesco, additional, Michailidou, Kyriaki, additional, Easton, Douglas F., additional, Chanock, Stephen J., additional, Hoover, Robert N., additional, Hunter, David J., additional, Schlessinger, David, additional, Sanna, Serena, additional, Crisponi, Laura, additional, and Palmieri, Giuseppe, additional

Published
2015
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14. ERCC1 polymorphisms as prognostic markers in T4 breast cancer patients treated with platinum-based chemotherapy

Author

Palomba, Grazia, primary, Atzori, Francesco, additional, Budroni, Mario, additional, Ombra, MariaNeve, additional, Cossu, Antonio, additional, Sini, MariaCristina, additional, Pusceddu, Valeria, additional, Massidda, Bruno, additional, Frau, Barbara, additional, Notari, Francesca, additional, Ionta, MariaTeresa, additional, and Palmieri, Giuseppe, additional

Published
2014
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15. Discrepant alterations in main candidate genes among multiple primary melanomas

Author

Colombino, Maria, primary, Sini, MariaCristina, additional, Lissia, Amelia, additional, De Giorgi, Vincenzo, additional, Stanganelli, Ignazio, additional, Ayala, Fabrizio, additional, Massi, Daniela, additional, Rubino, Corrado, additional, Manca, Antonella, additional, Paliogiannis, Panagiotis, additional, Rossari, Susanna, additional, Magi, Serena, additional, Mazzoni, Laura, additional, Botti, Gerardo, additional, Capone, Mariaelena, additional, Palla, Marco, additional, Ascierto, Paolo A, additional, Cossu, Antonio, additional, and Palmieri, Giuseppe, additional

Published
2014
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16. Assessment of germline and somatic alterations in main candidate genes among patients with multiple primary melanoma

Author

Colombino, Maria, primary, Sini, Maria, additional, Lissia, Amelia, additional, Cossu, Antonio, additional, De Giorgi, Vincenzo, additional, Massi, Daniela, additional, Stanganelli, Ignazio, additional, Rubino, Corrado, additional, Manca, Antonella, additional, Palomba, Grazia, additional, Botti, Gerardo, additional, Caracò, Corrado, additional, Mozzillo, Nicola, additional, Ascierto, Paolo, additional, and Palmieri, Giuseppe, additional

Published
2014
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17. Heterogeneous distribution of BRAF/NRAS mutations among Italian patients with advanced melanoma

Author

Colombino, Maria, primary, Lissia, Amelia, additional, Capone, Mariaelena, additional, De Giorgi, Vincenzo, additional, Massi, Daniela, additional, Stanganelli, Ignazio, additional, Fonsatti, Ester, additional, Maio, Michele, additional, Botti, Gerardo, additional, Caracò, Corrado, additional, Mozzillo, Nicola, additional, Ascierto, Paolo A, additional, Cossu, Antonio, additional, and Palmieri, Giuseppe, additional

Published
2013
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21. Phase III randomized study of fotemustine and dacarbazine versus dacarbazine with or without interferon-α in advanced malignant melanoma

Author

Daponte, Antonio, primary, Signoriello, Simona, additional, Maiorino, Luigi, additional, Massidda, Bruno, additional, Simeone, Ester, additional, Grimaldi, Antonio Maria, additional, Caracò, Corrado, additional, Palmieri, Giuseppe, additional, Cossu, Antonio, additional, Botti, Gerardo, additional, Petrillo, Antonella, additional, Lastoria, Secondo, additional, Cavalcanti, Ernesta, additional, Aprea, Pasquale, additional, Mozzillo, Nicola, additional, Gallo, Ciro, additional, Comella, Giuseppe, additional, and Ascierto, Paolo Antonio, additional

Published
2013
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23. Molecular alterations in key-regulator genes among patients with T4 breast carcinoma

Author

Massidda, Bruno, primary, Sini, MariaCristina, additional, Budroni, Mario, additional, Atzori, Francesco, additional, Deidda, MariaCristina, additional, Pusceddu, Valeria, additional, Perra, MariaTeresa, additional, Sirigu, Paola, additional, Cossu, Antonio, additional, Palomba, Grazia, additional, Ionta, MariaTeresa, additional, and Palmieri, Giuseppe, additional

Published
2010
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24. A role of BRCA1 and BRCA2germline mutations in breast cancer susceptibility within Sardinian population

Author

Palomba, Grazia, primary, Loi, Angela, additional, Uras, Antonella, additional, Fancello, Patrizia, additional, Piras, Giovanna, additional, Gabbas, Attilio, additional, Cossu, Antonio, additional, Budroni, Mario, additional, Contu, Antonio, additional, Tanda, Francesco, additional, Farris, Antonio, additional, Orrù, Sandra, additional, Floris, Carlo, additional, Pisano, Marina, additional, Lovicu, Mario, additional, Santona, Maria Cristina, additional, Landriscina, Gennaro, additional, Crisponi, Laura, additional, Palmieri, Giuseppe, additional, and Monne, Maria, additional

Published
2009
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27. Serial detection of circulating tumour cells by reverse transcriptase-polymerase chain reaction assays is a marker for poor outcome in patients with malignant melanoma

Author

Palmieri, Giuseppe, primary, Satriano, Sabrina MR, additional, Budroni, Mario, additional, Cossu, Antonio, additional, Tanda, Francesco, additional, Canzanella, Sergio, additional, Caracò, Corrado, additional, Simeone, Ester, additional, Daponte, Antonio, additional, Mozzillo, Nicola, additional, Comella, Giuseppe, additional, Castello, Giuseppe, additional, and Ascierto, Paolo A, additional

Published
2006
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29. Mutations of the BRAF gene in human cancer

Author

Davies, Helen, primary, Bignell, Graham R., additional, Cox, Charles, additional, Stephens, Philip, additional, Edkins, Sarah, additional, Clegg, Sheila, additional, Teague, Jon, additional, Woffendin, Hayley, additional, Garnett, Mathew J., additional, Bottomley, William, additional, Davis, Neil, additional, Dicks, Ed, additional, Ewing, Rebecca, additional, Floyd, Yvonne, additional, Gray, Kristian, additional, Hall, Sarah, additional, Hawes, Rachel, additional, Hughes, Jaime, additional, Kosmidou, Vivian, additional, Menzies, Andrew, additional, Mould, Catherine, additional, Parker, Adrian, additional, Stevens, Claire, additional, Watt, Stephen, additional, Hooper, Steven, additional, Wilson, Rebecca, additional, Jayatilake, Hiran, additional, Gusterson, Barry A., additional, Cooper, Colin, additional, Shipley, Janet, additional, Hargrave, Darren, additional, Pritchard-Jones, Katherine, additional, Maitland, Norman, additional, Chenevix-Trench, Georgia, additional, Riggins, Gregory J., additional, Bigner, Darell D., additional, Palmieri, Giuseppe, additional, Cossu, Antonio, additional, Flanagan, Adrienne, additional, Nicholson, Andrew, additional, Ho, Judy W. C., additional, Leung, Suet Y., additional, Yuen, Siu T., additional, Weber, Barbara L., additional, Seigler, Hilliard F., additional, Darrow, Timothy L., additional, Paterson, Hugh, additional, Marais, Richard, additional, Marshall, Christopher J., additional, Wooster, Richard, additional, Stratton, Michael R., additional, and Futreal, P. Andrew, additional

Published
2002
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