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

Alessandra Viel, Elisabetta Novella, Maurizio Genuardi, Eugenia Capozzi, Mara Fornasarig, Monica Pedroni, Manuela Santarosa, Maurizio Ponz De Leon, Lara Della Puppa, Marcello Anti, Mauro Boiocchi

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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.

Original languageEnglish
Pages (from-to)565-569
Number of pages5
JournalInternational Journal of Oncology
Volume13
Issue number3
Publication statusPublished - Sep 1998

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Colorectal Neoplasms
Mutation
Genes
Microsatellite Instability
Neoplasm Genes
Nucleotides
Neoplasms

Keywords

  • Hereditary colorectal cancer
  • HNPCC
  • Mutation
  • PMS2
  • Polymorphism

ASJC Scopus subject areas

  • Cancer Research
  • Oncology

Cite this

Viel, A., Novella, E., Genuardi, M., Capozzi, E., Fornasarig, M., Pedroni, M., ... Boiocchi, M. (1998). Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. International Journal of Oncology, 13(3), 565-569.

Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. / Viel, Alessandra; Novella, Elisabetta; Genuardi, Maurizio; Capozzi, Eugenia; Fornasarig, Mara; Pedroni, Monica; Santarosa, Manuela; Ponz De Leon, Maurizio; Puppa, Lara Della; Anti, Marcello; Boiocchi, Mauro.

In: International Journal of Oncology, Vol. 13, No. 3, 09.1998, p. 565-569.

Research output: Contribution to journalArticle

Viel, A, Novella, E, Genuardi, M, Capozzi, E, Fornasarig, M, Pedroni, M, Santarosa, M, Ponz De Leon, M, Puppa, LD, Anti, M & Boiocchi, M 1998, 'Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer', International Journal of Oncology, vol. 13, no. 3, pp. 565-569.
Viel, Alessandra ; Novella, Elisabetta ; Genuardi, Maurizio ; Capozzi, Eugenia ; Fornasarig, Mara ; Pedroni, Monica ; Santarosa, Manuela ; Ponz De Leon, Maurizio ; Puppa, Lara Della ; Anti, Marcello ; Boiocchi, Mauro. / Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer. In: International Journal of Oncology. 1998 ; Vol. 13, No. 3. pp. 565-569.
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