The Experts below are selected from a list of 249 Experts worldwide ranked by ideXlab platform
G Abbati - One of the best experts on this subject based on the ideXlab platform.
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aetiology of colorectal cancer and relevance of Monogenic Inheritance
Journal of Medical Genetics, 2004Co-Authors: D Ponz, Piero Benatti, F Borghi, Monica Pedroni, A Scarselli, Lorena Losi, Alessandra Viel, M Genuardi, G Di, G AbbatiAbstract:Background and aims: Although diet and lifestyle are associated with the development of colorectal malignancies, the only clearly identified aetiological factors in colorectal cancer are Inheritance (hereditary non-polyposis colorectal cancer (HNPCC) and familial polyposis), inflammatory bowel diseases, papillomavirus, and acquired immunodeficiency syndrome (AIDS). Our aim was to determine what proportion of colorectal neoplasms could be attributed to these …
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aetiology of colorectal cancer and relevance of Monogenic Inheritance
Gut, 2004Co-Authors: Ponz M De Leon, Piero Benatti, F Borghi, Monica Pedroni, A Scarselli, C Di Gregorio, Lorena Losi, Alessandra Viel, M Genuardi, G AbbatiAbstract:Background and aims: Although diet and lifestyle are associated with the development of colorectal malignancies, the only clearly identified aetiological factors in colorectal cancer are Inheritance (hereditary non-polyposis colorectal cancer (HNPCC) and familial polyposis), inflammatory bowel diseases, papillomavirus, and acquired immunodeficiency syndrome (AIDS). Our aim was to determine what proportion of colorectal neoplasms could be attributed to these specific factors. Patients and methods: Data from a colorectal cancer registry were analysed over a 15 year period, during which nearly 2500 cases were recorded. In patients with suspected HNPCC, microsatellite instability and immunohistochemical expression of proteins encoded by the main DNA mismatch repair genes were assessed. In families with unstable neoplasms, constitutional mutations of the mismatch repair genes hMSH2 , hMLH1 , and hMSH6 were evaluated by single strand conformation polymorphism analysis and sequencing. Results: Inflammatory bowel diseases, familial polyposis, and AIDS were rare causes of colorectal cancer (three, three, and one case, respectively). Anal squamous carcinoma developed in 27 patients (1.0%) and could be attributed to papillomavirus infection. In 58 patients (from 34 families) a clinical diagnosis of HNPCC was established (2.4%). In total, cases with a known aetiology were 92 (3.7% of all patients). Microsatellite instability was detected in 15 cancers from HNPCC families, and germline mutations in six families (12 patients, 0.5% of the total). Families with unstable tumours, with or without mutations, were clinically similar, suggesting the involvement of the mismatch repair system even when mutations were not detected. Conclusions: The study suggests that the aetiology of colorectal malignancies remains elusive in the large majority of cases. Among specific causes, HNPCC represents the most frequent. However, with a population based approach, constitutional mutations of the main genes involved in HNPCC can be detected in only 20% of cases.
E V Kozminsky - One of the best experts on this subject based on the ideXlab platform.
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Inheritance of longitudinal white shell bands in the snail Littorina obtusata (Gastropoda, Prosobranchia)
Genetika, 2020Co-Authors: E V KozminskyAbstract:The hypothesis on Monogenic Inheritance of white longitudinal shell bands in the snail Littorina obtusata was tested. The data showed that a single gene with two alleles was responsible for the presence of the bands on the snail shell. The presence of bands was the dominant character.
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Inheritance of longitudinal shell bands in the snails Littorina obtusata and L. saxatilis (Gastropoda, Prosobranchia)
Russian Journal of Genetics, 2011Co-Authors: E V KozminskyAbstract:The hypothesis of a Monogenic Inheritance of dark longitudinal bands on the shell in the gastropods Littorina obtusata and L. saxatilis was checked. One gene having two alleles proved to be responsible for the shell banding pattern in both of the species. The presence of bands was a dominant character in either case.
M Genuardi - One of the best experts on this subject based on the ideXlab platform.
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aetiology of colorectal cancer and relevance of Monogenic Inheritance
Journal of Medical Genetics, 2004Co-Authors: D Ponz, Piero Benatti, F Borghi, Monica Pedroni, A Scarselli, Lorena Losi, Alessandra Viel, M Genuardi, G Di, G AbbatiAbstract:Background and aims: Although diet and lifestyle are associated with the development of colorectal malignancies, the only clearly identified aetiological factors in colorectal cancer are Inheritance (hereditary non-polyposis colorectal cancer (HNPCC) and familial polyposis), inflammatory bowel diseases, papillomavirus, and acquired immunodeficiency syndrome (AIDS). Our aim was to determine what proportion of colorectal neoplasms could be attributed to these …
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aetiology of colorectal cancer and relevance of Monogenic Inheritance
Gut, 2004Co-Authors: Ponz M De Leon, Piero Benatti, F Borghi, Monica Pedroni, A Scarselli, C Di Gregorio, Lorena Losi, Alessandra Viel, M Genuardi, G AbbatiAbstract:Background and aims: Although diet and lifestyle are associated with the development of colorectal malignancies, the only clearly identified aetiological factors in colorectal cancer are Inheritance (hereditary non-polyposis colorectal cancer (HNPCC) and familial polyposis), inflammatory bowel diseases, papillomavirus, and acquired immunodeficiency syndrome (AIDS). Our aim was to determine what proportion of colorectal neoplasms could be attributed to these specific factors. Patients and methods: Data from a colorectal cancer registry were analysed over a 15 year period, during which nearly 2500 cases were recorded. In patients with suspected HNPCC, microsatellite instability and immunohistochemical expression of proteins encoded by the main DNA mismatch repair genes were assessed. In families with unstable neoplasms, constitutional mutations of the mismatch repair genes hMSH2 , hMLH1 , and hMSH6 were evaluated by single strand conformation polymorphism analysis and sequencing. Results: Inflammatory bowel diseases, familial polyposis, and AIDS were rare causes of colorectal cancer (three, three, and one case, respectively). Anal squamous carcinoma developed in 27 patients (1.0%) and could be attributed to papillomavirus infection. In 58 patients (from 34 families) a clinical diagnosis of HNPCC was established (2.4%). In total, cases with a known aetiology were 92 (3.7% of all patients). Microsatellite instability was detected in 15 cancers from HNPCC families, and germline mutations in six families (12 patients, 0.5% of the total). Families with unstable tumours, with or without mutations, were clinically similar, suggesting the involvement of the mismatch repair system even when mutations were not detected. Conclusions: The study suggests that the aetiology of colorectal malignancies remains elusive in the large majority of cases. Among specific causes, HNPCC represents the most frequent. However, with a population based approach, constitutional mutations of the main genes involved in HNPCC can be detected in only 20% of cases.
Alessandra Viel - One of the best experts on this subject based on the ideXlab platform.
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aetiology of colorectal cancer and relevance of Monogenic Inheritance
Journal of Medical Genetics, 2004Co-Authors: D Ponz, Piero Benatti, F Borghi, Monica Pedroni, A Scarselli, Lorena Losi, Alessandra Viel, M Genuardi, G Di, G AbbatiAbstract:Background and aims: Although diet and lifestyle are associated with the development of colorectal malignancies, the only clearly identified aetiological factors in colorectal cancer are Inheritance (hereditary non-polyposis colorectal cancer (HNPCC) and familial polyposis), inflammatory bowel diseases, papillomavirus, and acquired immunodeficiency syndrome (AIDS). Our aim was to determine what proportion of colorectal neoplasms could be attributed to these …
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aetiology of colorectal cancer and relevance of Monogenic Inheritance
Gut, 2004Co-Authors: Ponz M De Leon, Piero Benatti, F Borghi, Monica Pedroni, A Scarselli, C Di Gregorio, Lorena Losi, Alessandra Viel, M Genuardi, G AbbatiAbstract:Background and aims: Although diet and lifestyle are associated with the development of colorectal malignancies, the only clearly identified aetiological factors in colorectal cancer are Inheritance (hereditary non-polyposis colorectal cancer (HNPCC) and familial polyposis), inflammatory bowel diseases, papillomavirus, and acquired immunodeficiency syndrome (AIDS). Our aim was to determine what proportion of colorectal neoplasms could be attributed to these specific factors. Patients and methods: Data from a colorectal cancer registry were analysed over a 15 year period, during which nearly 2500 cases were recorded. In patients with suspected HNPCC, microsatellite instability and immunohistochemical expression of proteins encoded by the main DNA mismatch repair genes were assessed. In families with unstable neoplasms, constitutional mutations of the mismatch repair genes hMSH2 , hMLH1 , and hMSH6 were evaluated by single strand conformation polymorphism analysis and sequencing. Results: Inflammatory bowel diseases, familial polyposis, and AIDS were rare causes of colorectal cancer (three, three, and one case, respectively). Anal squamous carcinoma developed in 27 patients (1.0%) and could be attributed to papillomavirus infection. In 58 patients (from 34 families) a clinical diagnosis of HNPCC was established (2.4%). In total, cases with a known aetiology were 92 (3.7% of all patients). Microsatellite instability was detected in 15 cancers from HNPCC families, and germline mutations in six families (12 patients, 0.5% of the total). Families with unstable tumours, with or without mutations, were clinically similar, suggesting the involvement of the mismatch repair system even when mutations were not detected. Conclusions: The study suggests that the aetiology of colorectal malignancies remains elusive in the large majority of cases. Among specific causes, HNPCC represents the most frequent. However, with a population based approach, constitutional mutations of the main genes involved in HNPCC can be detected in only 20% of cases.
Lorena Losi - One of the best experts on this subject based on the ideXlab platform.
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aetiology of colorectal cancer and relevance of Monogenic Inheritance
Journal of Medical Genetics, 2004Co-Authors: D Ponz, Piero Benatti, F Borghi, Monica Pedroni, A Scarselli, Lorena Losi, Alessandra Viel, M Genuardi, G Di, G AbbatiAbstract:Background and aims: Although diet and lifestyle are associated with the development of colorectal malignancies, the only clearly identified aetiological factors in colorectal cancer are Inheritance (hereditary non-polyposis colorectal cancer (HNPCC) and familial polyposis), inflammatory bowel diseases, papillomavirus, and acquired immunodeficiency syndrome (AIDS). Our aim was to determine what proportion of colorectal neoplasms could be attributed to these …
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aetiology of colorectal cancer and relevance of Monogenic Inheritance
Gut, 2004Co-Authors: Ponz M De Leon, Piero Benatti, F Borghi, Monica Pedroni, A Scarselli, C Di Gregorio, Lorena Losi, Alessandra Viel, M Genuardi, G AbbatiAbstract:Background and aims: Although diet and lifestyle are associated with the development of colorectal malignancies, the only clearly identified aetiological factors in colorectal cancer are Inheritance (hereditary non-polyposis colorectal cancer (HNPCC) and familial polyposis), inflammatory bowel diseases, papillomavirus, and acquired immunodeficiency syndrome (AIDS). Our aim was to determine what proportion of colorectal neoplasms could be attributed to these specific factors. Patients and methods: Data from a colorectal cancer registry were analysed over a 15 year period, during which nearly 2500 cases were recorded. In patients with suspected HNPCC, microsatellite instability and immunohistochemical expression of proteins encoded by the main DNA mismatch repair genes were assessed. In families with unstable neoplasms, constitutional mutations of the mismatch repair genes hMSH2 , hMLH1 , and hMSH6 were evaluated by single strand conformation polymorphism analysis and sequencing. Results: Inflammatory bowel diseases, familial polyposis, and AIDS were rare causes of colorectal cancer (three, three, and one case, respectively). Anal squamous carcinoma developed in 27 patients (1.0%) and could be attributed to papillomavirus infection. In 58 patients (from 34 families) a clinical diagnosis of HNPCC was established (2.4%). In total, cases with a known aetiology were 92 (3.7% of all patients). Microsatellite instability was detected in 15 cancers from HNPCC families, and germline mutations in six families (12 patients, 0.5% of the total). Families with unstable tumours, with or without mutations, were clinically similar, suggesting the involvement of the mismatch repair system even when mutations were not detected. Conclusions: The study suggests that the aetiology of colorectal malignancies remains elusive in the large majority of cases. Among specific causes, HNPCC represents the most frequent. However, with a population based approach, constitutional mutations of the main genes involved in HNPCC can be detected in only 20% of cases.