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103 results on '"Borgato L"'

17. Linkage analysius of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

Author

Gasparini P, Borgato L, Piperno A, Girelli D, Olivieri O, Gottardi E, Roetto A, Dianzani I, Fargion S, Schinaia G, Cappellini MD, Gandini G, Pignatti PF, Fiorelli G, De Sandre G, CAMASCHELLA , CLARA, Gasparini, P, Borgato, L, Piperno, A, Girelli, D, Olivieri, O, Gottardi, E, Roetto, A, Dianzani, I, Fargion, S, Schinaia, G, Cappellini, Md, Gandini, G, Pignatti, Pf, Fiorelli, G, De Sandre, G, and Camaschella, Clara

Published
1993

29. Endometrial metastatic neoplasia: Prognostic factors.

Author

Nicoletto, M. O., primary, Dalla Palma, M., additional, Donach, M., additional, Casetta, A., additional, Saccardi, C., additional, Borgato, L., additional, Fiduccia, P., additional, Mocellin, S., additional, Litta, P., additional, Zagonel, V., additional, and Nardelli, G. B., additional

Published
2011
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37. Evidence of c-myc gene abnormalities in mediastinal large B-cell lymphoma of young adult age

Author

Aldo Scarpa, Borgato, L., Chilosi, M., Capelli, P., Menestrina, F., Bonetti, F., Zamboni, G., Pizzolo, G., Hirohashi, S., and Fiore-Donati, L.

Subjects
Neoplasm/genetics/isolation & purification Doxorubicin/administration & dosage Female Gene Rearrangement *Genes, Combined Modality Therapy Cyclophosphamide/administration & dosage DNA Probes DNA, myc Human Leucovorin/administration & dosage Lymphoma, B-Cell/drug therapy/*genetics/therapy
Published
1991

39. Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

Author

Gasparini, P, Borgato, L, Piperno, A, Girelli, D, Olivieri, O, Gottardi, E, Roetto, A, Dianzani, I, Fargion, S, Schinaia, G, Schinaia, G., PIPERNO, ALBERTO, Gasparini, P, Borgato, L, Piperno, A, Girelli, D, Olivieri, O, Gottardi, E, Roetto, A, Dianzani, I, Fargion, S, Schinaia, G, Schinaia, G., and PIPERNO, ALBERTO

Abstract

Hereditary Hemochromatosis (HFE) is one of the most common inherited disorders with an estimated frequency of homozygous patients of 0.002-0.0045. The disease is characterized by increased intestinal iron absorption and progressive iron overload. Affected subjects show clinical symptoms of parenchymal organ damage after the third-fourth decade of life and have a 200 fold increased risk of developing hepatocellular carcinoma. Early diagnosis and treatment prevent complications and may normalize life expectancy of patients. The biochemical and genetic defects leading to progressive iron accumulation are still unknown, but the HFE gene is tightly linked to HLA complex on the short arm of chromosome 6. Utilizing HLA serotypes and the study of several polymorphic markers of 6p21, a linkage analysis of the disease locus was performed in a series of Italian hemochromatosis families. The data obtained by linkage analysis and the study of a family with a double recombinant allowed us to better define the HFE gene location with respect to HLA-class I A and F loci.

Published
1993

43. Overall survival in BRCA-associated ovarian cancer: case-control study of an Italian series.

Author

Artioli, G., Borgato, L., Cappetta, A., Wabersich, J., Mocellin, S., Dalla Palma, M., and Nicoletto, O.

Subjects
*OVARIAN cancer, *CANCER patients, *BRCA genes, *BREAST cancer, *CARCINOMA
Abstract

The article investigates the overall survival of ovarian cancer patients and the long-term survival of breast cancer genes (BRCA) mutation carriers and non-carriers compared to high-risk breast and ovarian cancer. Epidemiological data and molecular analysis show that 10% of all epithelial ovarian cancers are associated with inherited mutations in BRCA genes. Moreover, diagnosis is made at an advanced stage.

Published
2010

47. Characteristics and outcome of BRCA mutated epithelial ovarian cancer patients in Italy: A retrospective multicenter study (MITO 21)

Author

Domenica Lorusso, Giorgio Valabrega, Simona Scalone, Ugo De Giorgi, Gaia Giannone, Michele Orditura, Stefano Bogliolo, Furio Maggiorotto, Anna Maria Mosconi, G. Artioli, Gennaro Cormio, Emanuela Rossi, Maria Ornella Nicoletto, Ilaria Spagnoletti, Filippo Greco, Sandro Pignata, Sofia Genta, Lucia Borgato, Anila Kardhashi, Artioli, G., Giannone, G., Valabrega, G., Maggiorotto, F., Genta, S., Pignata, S., Lorusso, D., Cormio, G., Scalone, S., Nicoletto, M. O., Greco, F., Rossi, E., Spagnoletti, I., De Giorgi, U., Orditura, M., Mosconi, A. M., Kardhashi, A., Bogliolo, S., and Borgato, L.

Subjects
0301 basic medicine, Oncology, endocrine system diseases, medicine.medical_treatment, BRCA 1 and BRCA 2 genes, Metachronous breast cancer, Ovarian cancer, Adult, Aged, Aged, 80 and over, BRCA1 Protein, Carcinoma, Ovarian Epithelial, Demography, Female, Humans, Italy, Middle Aged, Neoplasm Staging, Ovarian Neoplasms, Progression-Free Survival, Retrospective Studies, Genetic Predisposition to Disease, Disease, 0302 clinical medicine, Retrospective Studie, Ovarian Epithelial, 80 and over, Epithelial ovarian cancer, Obstetrics and Gynecology, female genital diseases and pregnancy complications, Serous fluid, 030220 oncology & carcinogenesis, Cohort, Human, medicine.medical_specialty, BRCA 1 and BRCA 2 gene, 03 medical and health sciences, Breast cancer, Internal medicine, medicine, Pathological, Chemotherapy, business.industry, Ovarian Neoplasm, Carcinoma, medicine.disease, 030104 developmental biology, business
Abstract

Objective Around 15% of epithelial ovarian cancer (EOC) patients (pts) harbor a germline BRCA1 or 2 mutation, showing different features than BRCA wild-type pts. The clinical and pathological features of an Italian BRCA mutated EOC cohort were described. Methods We retrospectively analyzed clinical, pathological and mutational data from a cohort of Italian BRCA mutated EOC pts. treated in 15 MITO centers between 1995 and 2017. Results Three-hundred thirty-one pts. were recorded. Two-hundred forty (72%) and 91 (27.5%) pts. harbored a BRCA1 and BRCA2 mutation, respectively. Median age at diagnosis was 52 years. The most frequent diagnosis was a high grade serous FIGO III or IV EOC and platinum doublet in first-line was administered to almost all pts. Fifty-three % of them had no residual disease (R = 0) at surgery. Median progression-free-survival (mPFS) after first-line chemotherapy was 29 months. Expected percentage of pts. alive at 5 years was 72.5% (CI 60.2–80.8%) and R = 0 predicted a significantly longer overall survival (OS). Sixty-six pts. (19,9%) had both an EOC and a breast cancer (BC) diagnosis. The first diagnosis was BC in 81,8% of cases with a mean interval between the two diagnoses (IBTDs) of 132.4 months. Mutational data show that the founder mutation c.5266dupC in BRCA1 was the most frequently recorded. Conclusions This is the largest Italian BRCA mutEOC cohort. The only predictor of longer OS was R = 0. EOC pts. that developed subsequently a BC are long-term survivors.

Published
2020

48. Linkage analysis of 6p21 polymorphic markers and the hereditary hemochromatosis: localization of the gene centromeric to HLA-F

Author

Paolo Gasparini, Lorena Borgato, Alberto Piperno, Domenico Girelli, Oliviero Olivieri, Enrico Gottardi, Antonella Roetto, Irma Dianzani, Siliva Fargion, Giuseppe Schinaia, Maria D. Cappellini, Giorgio Gandini, PierFranco Pignatti, Gemino Fiorelli, Giorgio De Sandre, Clara Camaschella, Gasparini, P, Borgato, L, Piperno, A, Girelli, D, Olivieri, O, Gottardi, E, Roetto, A, Dianzani, I, Fargion, S, and Schinaia, G

Subjects
Genetic Markers, Male, Chromosome Mapping, Female, Genetic Linkage, HLA-A Antigens, Hemochromatosis, Humans, Pedigree, Polymorphism, Genetic, Recombination, Genetic, Repetitive Sequences, Nucleic Acid, Chromosomes, Human, Pair 6, Hemochromatosi, Locus (genetics), Human leukocyte antigen, Biology, Repetitive Sequences, Chromosomes, Genetic, Gene mapping, Genetic linkage, Genetic Marker, Genetics, medicine, Polymorphism, Molecular Biology, Genetics (clinical), HLA Complex, Nucleic Acid, HLA-A Antigen, Genetic disorder, General Medicine, medicine.disease, Recombination, Hereditary hemochromatosis, Pair 6, Human
Abstract

Hereditary Hemochromatosis (HFE) is one of the most common inherited disorders with an estimated frequency of homozygous patients of 0.002-0.0045. The disease is characterized by increased intestinal iron absorption and progressive iron overload. Affected subjects show clinical symptoms of parenchymal organ damage after the third-fourth decade of life and have a 200 fold increased risk of developing hepatocellular carcinoma. Early diagnosis and treatment prevent complications and may normalize life expectancy of patients. The biochemical and genetic defects leading to progressive iron accumulation are still unknown, but the HFE gene is tightly linked to HLA complex on the short arm of chromosome 6. Utilizing HLA serotypes and the study of several polymorphic markers of 6p21, a linkage analysis of the disease locus was performed in a series of Italian hemochromatosis families. The data obtained by linkage analysis and the study of a family with a double recombinant allowed us to better define the HFE gene location with respect to HLA-class I A and F loci.

Published
1993

49. PARP Inhibitors in Brain Metastases from Epithelial Ovarian Cancer through a Multimodal Patient Journey: Case Reports and Literature Review.

Author

Frezzini S, Tasca G, Borgato L, Sartor L, Ferrero A, Artioli G, Modena A, and Baldoni A

Subjects
Aged, Female, Humans, Middle Aged, Combined Modality Therapy, Brain Neoplasms secondary, Brain Neoplasms drug therapy, Carcinoma, Ovarian Epithelial drug therapy, Carcinoma, Ovarian Epithelial pathology, Carcinoma, Ovarian Epithelial genetics, Ovarian Neoplasms drug therapy, Ovarian Neoplasms pathology, Ovarian Neoplasms genetics, Poly(ADP-ribose) Polymerase Inhibitors therapeutic use
Abstract

Epithelial ovarian cancer (EOC) is the deadliest gynecological malignancy worldwide. Brain metastasis (BM) is quite an uncommon presentation. However, the likelihood of central nervous system (CNS) metastasization should be considered in the context of disseminated disease. The therapeutic management of BMs is an unmet clinical need, to date. We identified, across different cancer centers, six cases of both BRCA wild-type and BRCA-mutated EOCs spreading to the CNS. They presented either with a single brain lesion or with multiple lesions and most of them had intracranial-only disease. All cases received Poly-ADP ribose polymerase inhibitor (PARPi) maintenance, as per clinical practice, for a long time within a multimodal treatment approach. We also provide an insight into the available body of work regarding the management of this intriguing disease setting, with a glimpse of future therapeutic challenges. Despite the lack of unanimous guidelines, multimodal care pathways should be encouraged for the optimal disease control of this unfortunate patient subset. Albeit not being directly investigated in BM patients, PARPi maintenance is deemed to have a valuable role in this setting. Prospective research, aimed to implement worthwhile strategies in the multimodal patient journey of BMs from EOC, is eagerly awaited.

Published
2024
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50. Neoadjuvant Systemic Therapy in Early Breast Cancer: Results of a Prospective Observational Multicenter BRIDE Study.

Author

Gori S, Fabi A, Angiolini C, Turazza M, Salvini P, Ferretti G, Cretella E, Gianni L, Bighin C, Toss A, Zamagni C, Vici P, De Rossi C, Russo A, Bisagni G, Frassoldati A, Borgato L, Cariello A, Cappelletti C, Bordonaro R, Cinieri S, Modena A, Valerio M, Alvisi MF, De Simone I, Galli F, Rulli E, Santoni A, and Nicolis F

Abstract

To evaluate the rate of early breast cancer (EBC) patients treated with neoadjuvant systemic therapy (NAT) in Italy, criteria of patient selection and types of therapies delivered, an analysis of 1276 patients with stage I-II-III was conducted out of 1633 patients enrolled in the multicenter prospective observational BRIDE study. A total of 177 patients (13.9%) were treated with NAT and 1099 (85.9%) with surgery; in multivariate analysis, menopausal status, cT, cN, grade, HER2-positive and Triple negative (TN) subgroups were significantly associated with the decision to administer NAT. The type of NAT delivered was influenced by EBC subtype. NAT was administered to 53.2% of HER2+/HR-negative, 27.9% of HER2+/HR+, 7.1% of HER2-negative/HR+ and 30.3% of TN EBC patients. The pCR rates were similar to the ones reported in the literature: 74.2% in HER2+/HR-negative, 52.3% in HER2+/HR+, 17.2% in HER2-negative/HR+ and 37.9% in TN. In clinical practice, patient and tumor characteristics influenced oncologists in the decision to administer NAT in EBC and in the choice of the type of systemic therapy, according to ESMO and AIOM Guidelines. Currently, it is recommended always to evaluate the use of NAT in EBC, mainly in HER2+ and TN patients, considering that pCR is associated with significantly better survival of the patient and that effective therapies are now available for residual disease.

Published
2023
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