Research Topics
Species | Paolo AretiniSummaryAffiliation: University of Pisa Country: Italy Publications
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Detail Information
Publications
Different expressivity of BRCA1 and BRCA2: analysis of 179 Italian pedigrees with identified mutationPaolo Aretini
Section of Oncogenetics, Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa, Pisa, Italy
Breast Cancer Res Treat 81:71-9. 2003..Proportion of ovarian cancer was increased in the 5' portion of BRCA1, and presence of prostate or pancreatic cancer in a family was correlated with presence of ovarian cancer in BRCA2...- RNA-based analysis of BRCA1 and BRCA2 gene alterationsFabrizia Bonatti
Section of Genetic Oncology, Division of Surgical, Molecular and Ultrastructural Pathology, University of Pisa and Pisa University Hospital, Via Roma, Pisa, Italy
Cancer Genet Cytogenet 170:93-101. 2006..BRCA1 c.IVS17 + 6C>G, BRCA2 c.IVS12-9del4, and BRCA2 IVS1-9del3 represent rare variants, not disrupting normal mRNA processing. The last two BRCA2 genetic variants had not been reported in the Breast Cancer Information Core BIC database... 
PIK3CA in breast carcinoma: a mutational analysis of sporadic and hereditary casesAngela Michelucci
Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa, University Hospital of Pisa, Italy
Diagn Mol Pathol 18:200-5. 2009..The PIK3CA mutation seems to characterize the luminal-type BC, in both sporadic and BRCA2 mutated forms, and is absent in the basal-type BC, in both the sporadic and BRCA1 mutated forms...- Detection of the BRAF(V600E) mutation in fine needle aspiration cytology of thyroid papillary microcarcinoma cells selected by manual macrodissection: an easy tool to improve the preoperative diagnosisIvo Marchetti
Section of Cytopathology, University of Pisa and Pisa University Hospital, Pisa, Italy
Thyroid 22:292-8. 2012..We investigated the role of BRAF gene status in preoperative cytological samples, using manual macrodissection as an additional tool to improve the diagnostic accuracy of mPTC... - Clinicopathological significance of GADD45 gene alterations in human familial breast carcinomaElisa Sensi
Section of Oncogenetics, Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and University Hospital of Pisa, Italy
Breast Cancer Res Treat 87:197-201. 2004..No mutations were found. LOH at GADD45 locus was identified in 19/59 tumours. GADD45 does not appear to be a frequent mutational target in hereditary breast cancer... - Identification of novel alternatively spliced BRCA1-associated RING domain (BARD1) messenger RNAs in human peripheral blood lymphocytes and in sporadic breast cancer tissuesGrazia Lombardi
Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Via Roma 57, 56126 Pisa, Italy
Genes Chromosomes Cancer 46:791-5. 2007..However, we were unable to identify either qualitatively or quantitatively tumor-specific expression patterns of the identified BARD1 splicing variants... 
A molecular computational model improves the preoperative diagnosis of thyroid nodulesSara Tomei
Division of Surgical, Molecular, and Ultrastructural Pathology, Section of Molecular Pathology, University of Pisa, Italy
BMC Cancer 12:396. 2012..The aim of the current study was to determine the diagnostic utility of an 8-gene assay to distinguish benign from malignant thyroid neoplasm...- Angiogenesis and VEGF expression in pre-invasive lesions of the human breastPaolo Viacava
Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Pisa, Italy
J Pathol 204:140-6. 2004..No correlation was found between VEGF expression and the degree and/or type of vascularization... - Papillary lesions of the breast: a molecular progression?Claudio Di Cristofano
Division of Surgical, Molecular and Ultrastructural Pathology, University of Pisa and University Hospital of Pisa, Italy
Breast Cancer Res Treat 90:71-6. 2005..LOH at TP53 locus was also analyzed throughout lesions... - A recombination-based method to characterize human BRCA1 missense variantsLucia Guidugli
Section of Genetic Oncology, University Hospital and University of Pisa, Pisa, Italy
Breast Cancer Res Treat 125:265-72. 2011..These data, besides proposing a method for the study of BRCA1 variants' effect on HR and NHEJ, highlighted the need for a range of functional assays to be performed to identify variants with altered function... - A yeast recombination assay to characterize human BRCA1 missense variants of unknown pathological significanceMaria Adelaide Caligo
Sezione Genetica Oncologica Divisione di Patologia Dipartimento di Oncologia Università di Pisa, Pisa, Italy
Hum Mutat 30:123-33. 2009..Results clearly showed that this genetic system can be useful to discriminate between neutral and deleterious BRCA1 missense variants... - Penetrances of breast and ovarian cancer in a large series of families tested for BRCA1/2 mutationsFabio Marroni
Department of Oncology, Transplants and New Technologies in Medicine, Section of Pathology, University of Pisa, Pisa, Italy
Eur J Hum Genet 12:899-906. 2004..Our approach could lead to country-customized versions of the BRCAPRO software by providing appropriate population-specific estimates... - High level of messenger RNA for BRMS1 in primary breast carcinomas is associated with poor prognosisGrazia Lombardi
Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa and Pisa University Hospital, Via Roma 57, 56126 Pisa, Italy
Int J Cancer 120:1169-78. 2007.... - Markers of cell proliferation, apoptosis, and angiogenesis in thyroid adenomas: a comparative immunohistochemical and genetic investigation of functioning and nonfunctioning nodulesPaolo Viacava
Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University of Pisa, Pisa, Italy
Thyroid 17:191-7. 2007.... - Haplotype analysis of BRCA1 gene reveals a new gene rearrangement: characterization of a 19.9 KBP deletionMariella Tancredi
Section of Oncogenetics, Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, Transplants and New Technologies in Medicine, University of Pisa and University Hospital of Pisa, Italy
Eur J Hum Genet 12:775-7. 2004.... - p53 inactivation is a rare event in familial breast tumors negative for BRCA1 and BRCA2 mutationsElisa Sensi
Section of Oncogenetics, Division of Surgical, Molecular and Ultrastructural Pathology, Department of Oncology, University Hospital of Pisa, University of Pisa, Pisa, Italy
Breast Cancer Res Treat 82:1-9. 2003..While loss of p53 checkpoint control is likely to be an important step in the molecular pathogenesis of BRCA1-associated cancers, our data seem to indicate a p53-independent molecular mechanism underlying BRCAx neoplastic transformation... - c-KIT receptor expression is strictly associated with the biological behaviour of thyroid nodulesSara Tomei
Section of Molecular Pathology, Division of Surgical, Molecular, and Ultrastructural Pathology, University of Pisa and Pisa University Hospital, Via Roma 57, Pisa, 56100, Italy
J Transl Med 10:7. 2012..The development of molecular initial diagnostic tests for evaluating a thyroid nodule is needed in order to define optimal surgical approach for patients with uncertain diagnosis pre- and intra-operatively... - Definition of the microvascular pattern of the normal human adult mammary glandAntonio G Naccarato
Department of Oncology, Division of Surgical, Molecular and Ultrastructural Pathology, University of Pisa, Italy
J Anat 203:599-603. 2003..4 +/- 1.5) in lobules and ducts, respectively. PR expression levels were in the range 10-13% (11.1 +/- 1.6) and 14-17% (15.2 +/- 1.4), respectively. No correlation was found between ER/PR expression and vascularization parameters... - Evaluation of FISH image analysis system on assessing HER2 amplification in breast carcinoma casesZenonas Theodosiou
Department of Informatics, Aristotle University of Thessaloniki, Box 451, 54124 Thessaloniki, Greece
Breast 17:80-4. 2008..The evaluation shows that the developed FISH image analysis software can accelerate evaluation of HER2 status in most breast cancer cases...