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.

Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics / A., Viel; M., Genuardi; E., LUCCI CORDISCO; E., Capozzi; V., Rovella; M., Fornasarig; PONZ DE LEON, Maurizio; M., Anti; Pedroni, Monica; A., Bellacosa; Percesepe, Antonio; M., Covino. - In: COMMUNITY GENETICS. - ISSN 1422-2795. - STAMPA. - 1:(1998), pp. 229-236.

Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics

PONZ DE LEON, Maurizio;PEDRONI, Monica;PERCESEPE, Antonio;
1998

Abstract

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.
1998
1
229
236
Hereditary nonpolyposis colorectal cancer: an approach to the selection of candidates to genetic testing based on clinical and molecular characteristics / A., Viel; M., Genuardi; E., LUCCI CORDISCO; E., Capozzi; V., Rovella; M., Fornasarig; PONZ DE LEON, Maurizio; M., Anti; Pedroni, Monica; A., Bellacosa; Percesepe, Antonio; M., Covino. - In: COMMUNITY GENETICS. - ISSN 1422-2795. - STAMPA. - 1:(1998), pp. 229-236.
A., Viel; M., Genuardi; E., LUCCI CORDISCO; E., Capozzi; V., Rovella; M., Fornasarig; PONZ DE LEON, Maurizio; M., Anti; Pedroni, Monica; A., Bellacosa; Percesepe, Antonio; M., Covino
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/457006
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