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Start Over Author "Barana D." Topic microsatellite repeats
4 results on '"Barana D."'

2. Microsatellite instability and colorectal cancer prognosis.

Author

Benatti P, Gafà R, Barana D, Marino M, Scarselli A, Pedroni M, Maestri I, Guerzoni L, Roncucci L, Menigatti M, Roncari B, Maffei S, Rossi G, Ponti G, Santini A, Losi L, Di Gregorio C, Oliani C, Ponz de Leon M, and Lanza G

Subjects
Adaptor Proteins, Signal Transducing, Adenocarcinoma diagnosis, Adenocarcinoma drug therapy, Adenocarcinoma genetics, Adenocarcinoma, Mucinous diagnosis, Adenocarcinoma, Mucinous drug therapy, Adenocarcinoma, Mucinous genetics, Antimetabolites, Antineoplastic therapeutic use, Carrier Proteins genetics, Colorectal Neoplasms diagnosis, Colorectal Neoplasms drug therapy, DNA-Binding Proteins genetics, Female, Fluorouracil therapeutic use, Humans, Male, MutL Protein Homolog 1, MutS Homolog 2 Protein genetics, Neoplasm Staging, Nuclear Proteins genetics, Prognosis, Prospective Studies, Survival Rate, Treatment Outcome, Colorectal Neoplasms genetics, Genomic Instability, Microsatellite Repeats genetics
Abstract

Purpose: Many studies have evaluated the role of high levels of microsatellite instability (MSI) as a prognostic marker and predictor of the response to chemotherapy in colorectal cancer (CRC); however, the results are not conclusive. The aim of this study was to analyze the prognostic significance of high levels of MSI (MSI-H) in CRC patients in relation to fluorouracil-based chemotherapy., Experimental Design: In three different institutions, 1,263 patients with CRC were tested for the presence of MSI, and CRC-specific survival was then analyzed in relation to MSI status, chemotherapy, and other clinical and pathologic variables., Results: Two hundred and fifty-six tumors were MSI-H (20.3%): these were more frequently at a less advanced stage, right-sided, poorly differentiated, with mucinous phenotype, and expansive growth pattern than microsatellite stable carcinomas. Univariate and multivariate analyses of 5-year-specific survival revealed stage, tumor location, grade of differentiation, MSI, gender, and age as significant prognostic factors. The prognostic advantage of MSI tumors was particularly evident in stages II and III in which chemotherapy did not significantly affect the survival of MSI-H patients. Finally, we analyzed survival in MSI-H patients in relation to the presence of mismatch repair gene mutations. MSI-H patients with hereditary non-polyposis colorectal cancer showed a better prognosis as compared with sporadic MSI-H; however, in multivariate analysis, this difference disappeared., Conclusions: The type of genomic instability could influence the prognosis of CRC, in particular in stages II and III. Fluorouracil-based chemotherapy does not seem to improve survival among MSI-H patients. The survival benefit for patients with hereditary non-polyposis colorectal cancer is mainly determined by younger age and less advanced stage as compared with sporadic MSI-H counterpart.

Published
2005
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3. A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability

Author

Marroni, F, Pastrello, C, Benatti, Piero, Torrini, M, Barana, D, Cordisco, El, Viel, A, Mareni, C, Oliani, C, Genuardi, M, Bailey Wilson JE, PONZ DE LEON, Maurizio, and Presciuttini, S.

Subjects
Male, SUSCEPTIBILITY, GUIDELINES, Settore MED/03 - GENETICA MEDICA, Models, genetics, Adaptor Proteins, Signal Transducing, Adult, Aged, Carrier Proteins, genetics, Colorectal Neoplasms, Hereditary Nonpolyposis, genetics, Female, Genetic Testing, Genomic Instability, Heterozygote Detection, methods, Humans, Italy, Male, Microsatellite Repeats, Middle Aged, Models, Genetic, MutS Homolog 2 Protein, genetics, Mutation, Nuclear Proteins, genetics, Software, RISK, LYNCH-SYNDROME-I, NONPOLYPOSIS COLORECTAL-CANCER, SELECTION-STRATEGIES, MUTATIONS, BRCA1, HMLH1, HMSH2, Genetic Carrier Screening, Nuclear Proteins, Middle Aged, MutS Homolog 2 Protein, Italy, statistics, Female, MutL Protein Homolog 1, Colorectal Neoplasms, Adult, HNPCC, Mutation-predicting models, Heterozygote Detection, Genomic Instability, methods, microsatellite instability, Genetic, Humans, Genetic Testing, MSI, Adaptor Proteins, Signal Transducing, Aged, Models, Genetic, Carrier probability, Signal Transducing, Colorectal Neoplasms, Hereditary Nonpolyposis, Mutation, Carrier Proteins, Software, Microsatellite Repeats
Abstract

Mutation-predicting models can be useful when deciding on the genetic testing of individuals at risk and in determining the cost effectiveness of screening strategies at the population level. The aim of this study was to evaluate the performance of a newly developed genetic model that incorporates tumor microsatellite instability (MSI) information, called the AIFEG model, and in predicting the presence of mutations in MSH2 and MLH1 in probands with suspected hereditary non-polyposis colorectal cancer. The AIFEG model is based on published estimates of mutation frequencies and cancer penetrances in carriers and non-carriers and employs the program MLINK of the FASTLINK package to calculate the proband's carrier probability. Model performance is evaluated in a series of 219 families screened for mutations in both MSH2 and MLH1, in which 68 disease-causing mutations were identified. Predictions are first obtained using family history only and then converted into posterior probabilities using information on MSI. This improves predictions substantially. Using a probability threshold of 10% for mutation analysis, the AIFEG model applied to our series has 100% sensitivity and 71% specificity.

Published
2006

4. A genetic model for determining MSH2 and MLH1 carrier probabilities based on family history and tumor microsatellite instability.

Author

Marroni, F., Pastrello, C., Benatti, P., Torrini, M., Barana, D., Cordisco, E. L., Viel, A., Mareni, C., Oliani, C., Genuardi, M., Bailey-Wilson, J. E., Ponz de Leon, M., and Presciuttini, S.

Subjects
GENETIC mutation, HUMAN chromosome abnormality diagnosis, MEDICAL screening, COLON cancer, MICROSATELLITE repeats, CANCER, MSH2 gene
Abstract

Mutation-predicting models can be useful when deciding on the genetic testing of individuals at risk and in determining the cost effectiveness of screening strategies at the population level. The aim of this study was to evaluate the performance of a newly developed genetic model that incorporates tumor microsatellite instability (MSI) information, called the AIFEG model, and in predicting the presence of mutations in MSH2 and MLH1 in probands with suspected hereditary non-polyposis colorectal cancer. The AIFEG model is based on published estimates of mutation frequencies and cancer penetrances in carriers and non-carriers and employs the program MLINK of the FASTLINK package to calculate the proband's carrier probability. Model performance is evaluated in a series of 219 families screened for mutations in both MSH2 and MLH1, in which 68 disease-causing mutations were identified. Predictions are first obtained using family history only and then converted into posterior probabilities using information on MSI. This improves predictions substantially. Using a probability threshold of 10% for mutation analysis, the AIFEG model applied to our series has 100% sensitivity and 71% specificity. [ABSTRACT FROM AUTHOR]

Published
2006
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