Hereditary non-polyposis colorectal cancer (HNPCC) is a genetically heterogeneous disease for which PMS2 gene, a member of the human PMS gene family, is believed to have a marginal role. To better define the contribution of PMS2 to hereditary colorectal cancer, we investigated this gene in 22 unrelated Italian patients that, despite a positive family history and/or early onset and development of tumors with microsatellite instability (MSI), did not carry constitutional mutations of MLH1 and MSH2 genes. No mutations with clear-cut pathogenetic significance were detected in the coding regions of PMS2 gene, but only 8 polymorphisms (7 common and 1 rare, 3 silent and 5 missense) and 3 unique molecular variants (2 missense substitutions and one 3-nucleotide deletion) were seen. Lack of PMS2 truncating mutations in our study does not disagree with its supposed marginal involvement in hereditary colorectal cancer, but at the same time points out the need to investigate the phenotypic molecular and clinical characteristics more specifically associated with PMS2 mutations.

Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer / Viel, A; Fornasarig, M; Novella, E; Genuardi, M; Capozzi, E; Pedroni, Monica; Santarosa, M; PONZ DE LEON, Maurizio; Della Puppa, L; Anti, M; Boiocchi, M.. - In: INTERNATIONAL JOURNAL OF ONCOLOGY. - ISSN 1019-6439. - STAMPA. - 13:(1998), pp. 565-569.

Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer

PEDRONI, Monica;PONZ DE LEON, Maurizio;
1998

Abstract

Hereditary non-polyposis colorectal cancer (HNPCC) is a genetically heterogeneous disease for which PMS2 gene, a member of the human PMS gene family, is believed to have a marginal role. To better define the contribution of PMS2 to hereditary colorectal cancer, we investigated this gene in 22 unrelated Italian patients that, despite a positive family history and/or early onset and development of tumors with microsatellite instability (MSI), did not carry constitutional mutations of MLH1 and MSH2 genes. No mutations with clear-cut pathogenetic significance were detected in the coding regions of PMS2 gene, but only 8 polymorphisms (7 common and 1 rare, 3 silent and 5 missense) and 3 unique molecular variants (2 missense substitutions and one 3-nucleotide deletion) were seen. Lack of PMS2 truncating mutations in our study does not disagree with its supposed marginal involvement in hereditary colorectal cancer, but at the same time points out the need to investigate the phenotypic molecular and clinical characteristics more specifically associated with PMS2 mutations.
1998
13
565
569
Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer / Viel, A; Fornasarig, M; Novella, E; Genuardi, M; Capozzi, E; Pedroni, Monica; Santarosa, M; PONZ DE LEON, Maurizio; Della Puppa, L; Anti, M; Boiocchi, M.. - In: INTERNATIONAL JOURNAL OF ONCOLOGY. - ISSN 1019-6439. - STAMPA. - 13:(1998), pp. 565-569.
Viel, A; Fornasarig, M; Novella, E; Genuardi, M; Capozzi, E; Pedroni, Monica; Santarosa, M; PONZ DE LEON, Maurizio; Della Puppa, L; Anti, M; Boiocchi,...espandi
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11380/8299
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