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3. Training models and simulators for endoscopic transsphenoidal surgery: a systematic review

Author

Santona, Giacomo, primary, Madoglio, Alba, additional, Mattavelli, Davide, additional, Rigante, Mario, additional, Ferrari, Marco, additional, Lauretti, Liverana, additional, Mattogno, Pierpaolo, additional, Parrilla, Claudio, additional, De Bonis, Pasquale, additional, Galli, Jacopo, additional, Olivi, Alessandro, additional, Fontanella, Marco Maria, additional, Fiorentino, Antonio, additional, Serpelloni, Mauro, additional, and Doglietto, Francesco, additional

Published
2023
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6. Histologic subtyping affecting outcome of triple negative breast cancer: a large Sardinian population-based analysis

Author

Sanges, Francesca, primary, Floris, Matteo, additional, Cossu-Rocca, Paolo, additional, Muroni, Maria R., additional, Pira, Giovanna, additional, Urru, Silvana Anna Maria, additional, Barrocu, Renata, additional, Gallus, Silvano, additional, Bosetti, Cristina, additional, D’Incalci, Maurizio, additional, Manca, Alessandra, additional, Uras, Maria Gabriela, additional, Medda, Ricardo, additional, Sollai, Elisabetta, additional, Murgia, Alma, additional, Palmas, Dolores, additional, Atzori, Francesco, additional, Zinellu, Angelo, additional, Cambosu, Francesca, additional, Moi, Tiziana, additional, Ghiani, Massimo, additional, Marras, Vincenzo, additional, Santona, Maria Cristina, additional, Canu, Luisa, additional, Valle, Enrichetta, additional, Sarobba, Maria Giuseppina, additional, Onnis, Daniela, additional, Asunis, Anna, additional, Cossu, Sergio, additional, Orrù, Sandra, additional, and De Miglio, Maria Rosaria, additional

Published
2020
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7. Clinical and pathological factors influencing survival in a large cohort of triple-negative breast cancer patients

Author

Urru, Silvana Anna Maria, primary, Gallus, Silvano, additional, Bosetti, Cristina, additional, Moi, Tiziana, additional, Medda, Ricardo, additional, Sollai, Elisabetta, additional, Murgia, Alma, additional, Sanges, Francesca, additional, Pira, Giovanna, additional, Manca, Alessandra, additional, Palmas, Dolores, additional, Floris, Matteo, additional, Asunis, Anna Maria, additional, Atzori, Francesco, additional, Carru, Ciriaco, additional, D’Incalci, Maurizio, additional, Ghiani, Massimo, additional, Marras, Vincenzo, additional, Onnis, Daniela, additional, Santona, Maria Cristina, additional, Sarobba, Giuseppina, additional, Valle, Enrichetta, additional, Canu, Luisa, additional, Cossu, Sergio, additional, Bulfone, Alessandro, additional, Rocca, Paolo Cossu, additional, De Miglio, Maria Rosaria, additional, and Orrù, Sandra, additional

Published
2018
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8. Identification of a founder BRCA2 mutation in Sardinian breast cancer families

Author

Gennaro Landriscina, Attilio Gabbas, Patrizia Fancello, Maria Monne, Maria Cristina Santona, Antonella Uras, Giovanna Piras, and Giuseppe Mastio

Subjects
Adult, Male, Cancer Research, Genes, BRCA2, Population, Genes, BRCA1, Mutation, Missense, Breast Neoplasms, Biology, Breast Neoplasms, Male, Frameshift mutation, Breast cancer, Neoplastic Syndromes, Hereditary, Genetics, medicine, Humans, Family history, Frameshift Mutation, skin and connective tissue diseases, education, Genetics (clinical), Aged, Sequence Deletion, BRCA2 Protein, Ovarian Neoplasms, education.field_of_study, Genetic heterogeneity, Haplotype, Cancer, Neoplasms, Second Primary, Middle Aged, medicine.disease, Founder Effect, Pedigree, Haplotypes, Italy, Oncology, Mutation (genetic algorithm), Female
Abstract

The population of Sardinia is characterized by a relatively low level of genetic heterogeneity: therefore 'founder mutations' can be expected to be found. We analysed 17 probands from families with high incidence of breast cancer or breast and ovarian cancer by sequencing the full-length coding regions of BRCA1 and BRCA2 genes. A novel BRCA2 frame-shift mutation, 3951del3insAT, which produces a protein truncated at codon 1258, was observed in six patients with BC from the same village. The mutation was not found in unaffected females (matched on basis of ethnicity and age) with no family history of cancer. Haplotype analysis strongly suggests that all affected persons had a common ancestor. The identification of this clinically significant founder mutation may facilitate screening/testing for inherited risk of breast cancer.

Published
2007
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9. A role of BRCA1 and BRCA2germline mutations in breast cancer susceptibility within Sardinian population

Author

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

Subjects
Cancer Research, endocrine system diseases, Genes, BRCA2, Genes, BRCA1, Breast Neoplasms, medicine.disease_cause, lcsh:RC254-282, DNA sequencing, Cohort Studies, Breast cancer, Germline mutation, Recurrence, Surgical oncology, Ovarian carcinoma, Genetics, Humans, Medicine, Genetic Predisposition to Disease, skin and connective tissue diseases, Gene, Germ-Line Mutation, Aged, Family Health, Ovarian Neoplasms, Mutation, business.industry, Middle Aged, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, medicine.disease, Phenotype, Italy, Oncology, Female, business, Research Article
Abstract

Background In recent years, numerous studies have assessed the prevalence of germline mutations in BRCA1 and BRCA2 genes in various cohorts. We here extensively investigated the prevalence and geographical distribution of BRCA1-2 mutations in the entire genetically-homogeneous Sardinian population. The occurrence of phenotypic characteristics which may be predictive for the presence of BRCA1-2 germline mutations was also evaluated. Methods Three hundred and forty-eight breast cancer patients presenting a familial recurrence of invasive breast or ovarian carcinoma with at least two affected family members were screened for BRCA1-2 mutations by DHPLC analysis and DNA sequencing. Association of BRCA1 and BRCA2 mutational status with clinical and pathological parameters was evaluated by Pearson's Chi-Squared test. Results and Conclusion Overall, 8 BRCA1 and 5 BRCA2 deleterious mutations were detected in 35/348 (10%) families; majority (23/35;66%) of mutations was found in BRCA2 gene. The geographical distribution of BRCA1-2 mutations was related to three specific large areas of Sardinia, reflecting its ancient history: a) the Northern area, linguistically different from the rest of the island (where a BRCA2 c.8764_8765delAG mutation with founder effect was predominant); b) the Middle area, land of the ancient Sardinian population (where BRCA2 mutations are still more common than BRCA1 mutations); and c) the South-Western area, with many Phoenician and Carthaginian locations (where BRCA1 mutations are prevalent). We also found that phenotypic features such as high tumor grading and lack of expression of estrogen/progesterone receptors together with age at diagnosis and presence of ovarian cancer in the family may be predictive for the presence of BRCA1-2 germline mutations.

Published
2009
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10. Chemo-immunotherapy for advanced-stage malignancies and its impact on quality of life: Multidimensional evaluation in ten cancer patients

Author

B Lampis, M. C. Santona, L. Curreli, and Giovanni Mantovani

Subjects
Male, Oncology, medicine.medical_specialty, Skin Neoplasms, medicine.medical_treatment, Alpha interferon, Quality of life, Surveys and Questionnaires, Internal medicine, Antineoplastic Combined Chemotherapy Protocols, medicine, Humans, Melanoma, Interferon alfa, Aged, Analysis of Variance, Chemotherapy, business.industry, Cancer, Immunotherapy, Middle Aged, medicine.disease, Surgery, Epidermoid carcinoma, Head and Neck Neoplasms, Carcinoma, Squamous Cell, Quality of Life, Female, business, medicine.drug
Abstract

The aim of our study was to compare the impact of chemotherapy alone with that of chemotherapy plus immunotherapy on the quality of life (QL) of patients affected by advanced-stage malignancies (eight head and neck squamous-cell carcinomas, two melanomas). Ten patients receiving chemotherapy and immunotherapy sequentially were evaluated. The impact on QL was assessed by both objective and subjective scales. Evaluation was performed before the first cycle of therapy, at the end of chemotherapy, and after immunotherapy. The analysis of our data showed that the association of chemotherapy and immunotherapy did not significantly worsen the QL of patients as compared to chemotherapy alone.

Published
1996
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12. Synthetic peptide-acrylate surfaces for long-term self-renewal and cardiomyocyte differentiation of human embryonic stem cells

Author

Melkoumian, Zara, primary, Weber, Jennifer L, additional, Weber, David M, additional, Fadeev, Andrei G, additional, Zhou, Yue, additional, Dolley-Sonneville, Paula, additional, Yang, Jiwei, additional, Qiu, Liqun, additional, Priest, Catherine A, additional, Shogbon, Christopher, additional, Martin, Arthur W, additional, Nelson, Jodelle, additional, West, Peter, additional, Beltzer, James P, additional, Pal, Santona, additional, and Brandenberger, Ralph, additional

Published
2010
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13. 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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19. Tumor-associated lymphocytes (TAL) are competent to produce higher levels of cytokines in neoplastic pleural and peritoneal effusions than those found in sera and are able to release into culture higher levels of IL-2 and IL-6 than those released by PBMC

Author

Mantovani, G., primary, Macciò, A., additional, Versace, R., additional, Pisano, M., additional, Lai, P., additional, Esu, S., additional, Ghiani, M., additional, Dessì, D., additional, Turnu, E., additional, Santona, M. C., additional, Cherchi, R., additional, and Del Giacco, G. S., additional

Published
1995
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