Search Results - "GISMONDI, V"

Genotype and phenotype factors as determinants of desmoid tumors in patients with familial adenomatous polyposis by Bertario, L., Russo, A., Sala, P., Eboli, M., Giarola, M., D'amico, F., Gismondi, V., Varesco, L., Pierotti, M.A., Radice, P.

“…Desmoids represent the most important cause of death, after colorectal cancer, in patients affected with familial adenomatous polyposis (FAP), an inherited…”
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Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations by Ponti, G, Ponz de Leon, M, Maffei, S, Pedroni, M, Losi, L, Di Gregorio, C, Gismondi, V, Scarselli, A, Benatti, P, Roncari, B, Seidenari, S, Pellacani, G, Varotti, C, Prete, E, Varesco, L, Roncucci, L

“…Peculiar dermatologic manifestations are present in several heritable gastrointestinal disorders. Muir–Torre syndrome (MTS) is a genodermatosis whose peculiar…”
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Performance of BOADICEA and BRCAPRO genetic models and of empirical criteria based on cancer family history for predicting BRCA mutation carrier probabilities: A retrospective study in a sample of Italian cancer genetics clinics by Varesco, L, Viassolo, V, Viel, A, Gismondi, V, Radice, P, Montagna, M, Alducci, E, Della Puppa, L, Oliani, C, Tommasi, S, Caligo, M.A, Vivanet, C, Zuradelli, M, Mandich, P, Tibiletti, M.G, Cavalli, P, Lucci Cordisco, E, Turchetti, D, Boggiani, D, Bracci, R, Bruzzi, P, Bonelli, L

“…Abstract Purpose To evaluate in current practice the performance of BOADICEA and BRCAPRO risk models and empirical criteria based on cancer family history for…”
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A silent mutation in exon 14 of the APC gene is associated with exon skipping in a FAP family by Montera, M, Piaggio, F, Marchese, C, Gismondi, V, Stella, A, Resta, N, Varesco, L, Guanti, G, Mareni, C

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P-205 Streamlining the diagnostic pathway for Lynch syndrome in colorectal cancer patients: A ten-year experience in a single Italian center by Puccini, A., Nardin, S., Trevisan, L., Lastraioli, S., Ricciotti, I., Damiani, A., Bregni, G., Pastorino, A., Martelli, V., Murialdo, R., Gismondi, V., Battistuzzi, L., Varesco, L., Dono, M., Grillo, F., Sciallero, S.

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597P Endometrial carcinoma and mismatch repair deficiency: Clinical association and universal screening for Lynch syndrome by Puglisi, S., Ponzano, M., Perachino, M., Pirrone, C., Damassi, A., Bregni, G., Puccini, A., Grassi, M., Trevisan, L., Gismondi, V., Dono, M., Lastraioli, S., Fedele, P., Cremante, M., Gandini, A., Giannelli, F., Mammoliti, S., Vellone, V.G., Sciallero, M.S., Iaia, M.L.

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Feline injection-site sarcomas (FISSs): could the assessment of tumour-infiltrating lymphocytes (TILs) help in prog-nostic evaluations? by Porcellato, I., Treggiari, E., Gismondi, V., Di Matteo, I., De Feo, C., Moretti, G., Roccabianca, P., Lepri, E., Sforna, M., Brachelente, C.

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Identification of APC gene mutations in Italian adenomatous polyposis coli patients by PCR-SSCP analysis by VARESCO, L, GISMONDI, V, SALA, P, SASSATELLI, R, PONZ DE LEON, M, BIASCO, G, ALLEGRETTI, A, ASTE, H, DE SANCTIS, S, ROSSETTI, C, ILLENI, M. T, SCIARRA, A, JAMES, R, DEL PORTO, G, WHITE, R, GERRARA, G. B, ROBERTSON, M, GRAMMATICO, P, GRODEN, J, CASARINO, L, DE BENEDETTI, L, BAFICO, A, BERTARIO, L

“…The APC gene is a putative human tumor-suppressor gene responsible for adenomatous polyposis coli (APC), an inherited, autosomal dominant predisposition to…”
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Mutation in a splice-donor site of the APC gene in a family with polyposis and late age of colonic cancer death by VARESCO, L, GISMONDI, V, GRAMMATICO, P, DEL PORTO, G, WHITE, R, BERTARIO, L, FERRARA, G. B, PRESCIUTTINI, S, GRODEN, J, SPIRIO, L, SALA, P, ROSSETTI, C, DE BENEDETTI, L, BAFICO, A, HEOUAINE, A

“…Adenomatous polyposis coli (APC) is an autosomal dominant disease characterized by the development of hundreds of colorectal adenomatous polyps during the…”
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A distinct splice form of APC is highly expressed in neurones but not commonly mutated in neuroepithelial tumours by STEIGERWALD, Kira, SANTORO, Irma M, LOWY, Andrew M, VARESCO, Liliana, GRODEN, Joanna, KORDICH, Jennifer J, GISMONDI, Viviana, TRZEPACZ, Chris, BADIALI, Manuela, GIANGASPERO, F, BALKO, M. Gregory, GRAHAM, Jennifer S, RATNER, Nancy

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Age of onset in familial adenomatous polyposis: heterogeneity within families and among APC mutations by Presciuttini, S, Varesco, L, Sala, P, Gismondi, V, Rossetti, C, Bafico, A, Ferrara, G B, Bertario, L

“…Heterogeneity among and within FAP pedigrees for the age of symptom onset and the age at death from colorectal cancer was studied in a sample of 583 patients…”
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Prevalence of the Y165C, G382D and 1395delGGA germline mutations of the MYH gene in Italian patients with adenomatous polyposis coli and colorectal adenomas by Gismondi, Viviana, Meta, Maurizio, Bonelli, Luigina, Radice, Paolo, Sala, Paola, Bertario, Lucio, Viel, Alessandra, Fornasarig, Mara, Arrigoni, Arrigo, Gentile, Mattia, Ponz de Leon, Maurizio, Anselmi, Luca, Mareni, Cristina, Bruzzi, Paolo, Varesco, Liliana

“…Biallelic germline mutations in the base excision repair gene MYH have been reported in patients with multiple colorectal adenomas and cancer and in sporadic…”
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Clinical and biologic features of adenomatosis coli in Northern Italy by De Pietri, S, Sassatelli, R, Roncucci, L, Bertoni, G, Landi, P, Sabadini, G, Tansini, P, Cavallini, G, Cantoni, E, Mareni, C

“…Familial adenomatous polyposis (FAP) is a hereditary disease characterized by more than 100 adenomas scattered in the large bowel and by various extracolonic…”
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Genomic PCR-SSCP analysis of the metastasis associated NM23-H1 (NME1) gene: a study on colorectal cancer by Bafico, A, Varesco, L, De Benedetti, L, Caligo, M A, Gismondi, V, Sciallero, S, Aste, H, Ferrara, G B, Bevilacqua, G

“…To facilitate further mutational analysis of NM13-H1, a human metastasis suppressor gene, we have established its genomic organization. NM23-H1 is composed of…”
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Genetic events in sporadic colorectal adenomas: K-ras and p53 heterozygous mutations are not sufficient for malignant progression by De Benedetti, L, Varesco, L, Pellegata, N S, Losi, L, Gismondi, V, Casarino, L, Sciallero, S, Bonelli, L, Biticchi, R, Bafico, A

“…Twenty-four sporadic colorectal adenomas were analysed for the presence of allelic loss on the short arm of chromosome 17 as well as mutations in the K-ras and…”
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APC gene mutations in Italian familial polyposis coli patients by Varesco, L, Gismondi, V, James, R, De Benedetti, L, Heouaine, A, Biticchi, R, Masetti, E, Bertario, L, Sala, P, Grammatico, P

“…Adenomatous polyposis coli is an autosomal dominant disease characterized by the development of hundreds of colorectal adenomas in young adults. If…”
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Prevalence of the E1317Q variant of the APC gene in Italian patients with colorectal adenomas by Gismondi, V, Bonelli, L, Sciallero, S, Margiocco, P, Viel, A, Radice, P, Mondini, P, Sala, P, Montera, M P, Mareni, C, Quaia, M, Fornasarig, M, Gentile, M, Pietro, G, Rossini, P, Arrigoni, A, Meucci, G M, Bruzzi, P, Varesco, L

“…Loss of APC is an initial, rate-limiting event in inherited and sporadic colorectal tumorigenesis. Rare germline APC mutations have been identified in patients…”
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Cloning and characterization of a senescence inducing and class II tumor suppressor gene in ovarian carcinoma at chromosome region 6q27 by ACQUATI, Francesco, MORELLI, Cristina, MAGNANINI, Chiara, TIBILETTI, Maria G, BERNASCONI, Barbara, DAIDONE, Maria G, SHRIDHAR, Viji, SMITH, David I, NEGRINI, Massimo, BARBANTI-BRODANO, Giuseppe, TARAMELLI, Roberto, CINQUETTI, Raffaella, BIANCHI, Marco Giorgio, PORRINI, Davide, VARESCO, Liliana, GISMONDI, Viviana, ROCCHETTI, Romina, TALEVI, Simona, POSSATI, Laura

“…Cytogenetic, molecular and functional analysis has shown that chromosome region 6q27 harbors a senescence inducing gene and a tumor suppressor gene involved in…”
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Clinical features and genotype-phenotype correlations in 41 Italian families with adenomatosis coli by Ponz de Leon, M, Benatti, P, Percesepe, A, Cacciatore, A, Sassatelli, R, Bertoni, G, Sabadini, G, Varesco, L, Gismondi, V, Mareni, C, Montera, M, Di Gregorio, C, Landi, P, Roncucci, L

“…Familial Adenomatous Polyposis in an autosomal dominant disease in which the large bowel is carpeted by polyps of various dimensions appearing during the…”
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Short Report: Attenuated familial adenomatous polyposis and Muir-Torre syndrome linked to compound biallelic constitutional MYH gene mutations by Ponti, G, Ponz de Leon, M, Maffei, S, Pedroni, M, Losi, L, C Di Gregorio, Gismondi, V, Scarselli, A, Benatti, P, Roncari, B, Seidenari, S, Pellacani, G, Varotti, C, Prete, E, Varesco, L, Roncucci, L

“…Peculiar dermatologic manifestations are present in several heritable gastrointestinal disorders. Muir-Torre syndrome (MTS) is a genodermatosis whose peculiar…”
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