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

  • Authors:
    • A Viel
    • E Novella
    • M Genuardi
    • E Capozzi
    • M Fornasarig
    • M Pedroni
    • M Santarosa
    • M P De Leon
    • L Della Puppa
    • M Anti
    • M Boiocchi
  • View Affiliations

  • Published online on: September 1, 1998     https://doi.org/10.3892/ijo.13.3.565
  • Pages: 565-574
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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.

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Sep 1998
Volume 13 Issue 3

Print ISSN: 1019-6439
Online ISSN:1791-2423

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Spandidos Publications style
Viel A, Novella E, Genuardi M, Capozzi E, Fornasarig M, Pedroni M, Santarosa M, De Leon M, Della Puppa L, Anti M, Anti M, et al: Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer.. Int J Oncol 13: 565-574, 1998
APA
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, 565-574. https://doi.org/10.3892/ijo.13.3.565
MLA
Viel, A., Novella, E., Genuardi, M., Capozzi, E., Fornasarig, M., Pedroni, M., Santarosa, M., De Leon, M., Della Puppa, L., Anti, M., Boiocchi, M."Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer.". International Journal of Oncology 13.3 (1998): 565-574.
Chicago
Viel, A., Novella, E., Genuardi, M., Capozzi, E., Fornasarig, M., Pedroni, M., Santarosa, M., De Leon, M., Della Puppa, L., Anti, M., Boiocchi, M."Lack of PMS2 gene-truncating mutations in patients with hereditary colorectal cancer.". International Journal of Oncology 13, no. 3 (1998): 565-574. https://doi.org/10.3892/ijo.13.3.565