<Objective:< Identification of clinical and molecular characteristics associated with constitutional <MLH1< and <MSH2< mutations and definition of a stepwise strategy for the selection of colorectal ...cancer (CRC) patients amenable to <MLH1< and <MSH2< genetic testing. <Methods:< 90 unrelated CRC patients were initially selected on the basis of either familial or early onset occurrence of CRC. They were screened for the presence of constitutional <MLH1< and <MSH2< mutations and for microsatellite instability (MSI). <Results:< 16 pathogenetic mutations (9 <MLH1< and 7 <MSH2<) were identified in 41% of Amsterdam hereditary nonpolyposis colorectal cancer (HNPCC) families, 5% of suspected HNPCC families, and 14% of sporadic early-onset CRC patients. The presence of the mutations correlated with MSI, with early age of onset and proximal location of the tumor, and with the presence of some extracolonic tumors of the HNPCC spectrum and/or multiple tumors in the family. <Conclusions:< Evaluation of clinical and molecular characteristics is useful for the identification of candidates to <MLH1< and <MSH2< mutational analysis and allows the application of a rational approach to genetic testing.
On May 27th 2010, the Italian astronomical community learned with concern that the National Institute for Astrophysics (INAF) was going to be suppressed, and that its employees were going to be ...transferred to the National Research Council (CNR). It was not clear if this applied to all employees (i.e. also to researchers hired on short-term contracts), and how this was going to happen in practice. In this letter, we give a brief historical overview of INAF and present a short chronicle of the few eventful days that followed. Starting from this example, we then comment on the current situation and prospects of astronomical research in Italy.
Hereditary Nonpolyposis Colorectal Cancer Viel, Alessandra; Genuardi, Maurizio; Lucci-Cordisco, Emanuela ...
Community genetics,
01/1998, Letnik:
1, Številka:
4
Journal Article
Identification of clinical and molecular characteristics associated with constitutional MLH1 and MSH2 mutations and definition of a stepwise strategy for the selection of colorectal cancer (CRC) ...patients amenable to MLH1 and MSH2 genetic testing.
90 unrelated CRC patients were initially selected on the basis of either familial or early onset occurrence of CRC. They were screened for the presence of constitutional MLH1 and MSH2 mutations and for microsatellite instability (MSI).
16 pathogenetic mutations (9 MLH1 and 7 MSH2) were identified in 41% of Amsterdam hereditary nonpolyposis colorectal cancer (HNPCC) families, 5% of suspected HNPCC families, and 14% of sporadic early-onset CRC patients. The presence of the mutations correlated with MSI, with early age of onset and proximal location of the tumor, and with the presence of some extracolonic tumors of the HNPCC spectrum and/or multiple tumors in the family.
Evaluation of clinical and molecular characteristics is useful for the identification of candidates to MLH1 and MSH2 mutational analysis and allows the application of a rational approach to genetic testing.
File quality. Quality and work Breton, H. (Agence Nationale pour l'Amelioration des Conditions de Travail, Lyon (France)); Gaussen, R; Di Giovanni, R ...
PHM Revue Horticole (France),
(Jul-Aou 1996)
372
Magazine Article
