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International Journal of Oncology
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Print ISSN: 1019-6439 Online ISSN: 1791-2423
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Sep 1998 Volume 13 Issue 3

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Journals

International Journal of Molecular Medicine

International Journal of Molecular Medicine

International Journal of Molecular Medicine is an international journal devoted to molecular mechanisms of human disease.

International Journal of Oncology

International Journal of Oncology

International Journal of Oncology is an international journal devoted to oncology research and cancer treatment.

Molecular Medicine Reports

Molecular Medicine Reports

Covers molecular medicine topics such as pharmacology, pathology, genetics, neuroscience, infectious diseases, molecular cardiology, and molecular surgery.

Oncology Reports

Oncology Reports

Oncology Reports is an international journal devoted to fundamental and applied research in Oncology.

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine

Experimental and Therapeutic Medicine is an international journal devoted to laboratory and clinical medicine.

Oncology Letters

Oncology Letters

Oncology Letters is an international journal devoted to Experimental and Clinical Oncology.

Biomedical Reports

Biomedical Reports

Explores a wide range of biological and medical fields, including pharmacology, genetics, microbiology, neuroscience, and molecular cardiology.

Molecular and Clinical Oncology

Molecular and Clinical Oncology

International journal addressing all aspects of oncology research, from tumorigenesis and oncogenes to chemotherapy and metastasis.

World Academy of Sciences Journal

World Academy of Sciences Journal

Multidisciplinary open-access journal spanning biochemistry, genetics, neuroscience, environmental health, and synthetic biology.

International Journal of Functional Nutrition

International Journal of Functional Nutrition

Open-access journal combining biochemistry, pharmacology, immunology, and genetics to advance health through functional nutrition.

International Journal of Epigenetics

International Journal of Epigenetics

Publishes open-access research on using epigenetics to advance understanding and treatment of human disease.

Medicine International

Medicine International

An International Open Access Journal Devoted to General Medicine.

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Sep 1998 Volume 13 Issue 3

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Article

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 / Copyright

    Affiliations: Division of Experimental Oncology 1, Centro di Riferimento Oncologico, 33081 Aviano (PN), Italy.
  • Pages: 565-574
    |
    Published online on: September 1, 1998
       https://doi.org/10.3892/ijo.13.3.565
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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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Copy and paste a formatted citation
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
Copy and paste a formatted citation
x
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
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