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Article

APC germline mutations in families with familial adenomatous polyposis

  • Authors:
    • Lillian Barbosa De Queiroz Rossanese
    • Fernando Augusto De Lima Marson
    • José Dirceu Ribeiro
    • Claudio Saddy Rodrigues Coy
    • Carmen Silvia Bertuzzo
  • View Affiliations / Copyright

    Affiliations: Department of Medical Genetics, Medical Science Faculty, University of Campinas, Cidade Universitária, Campinas, SP 13081-970, Brazil, Department of Pediatrics, Medical Science Faculty, University of Campinas, Cidade Universitária, Campinas, SP 13081-970, Brazil, Department of Surgery, Medical Science Faculty, University of Campinas, Cidade Universitária, Campinas, SP 13081-970, Brazil
  • Pages: 2081-2088
    |
    Published online on: August 21, 2013
       https://doi.org/10.3892/or.2013.2681
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Abstract

Adenomatous polyposis coli (APC) germline mutations are responsible for the occurrence of familial adenomatous polyposis (FAP). Somatic mutations lead to malignant transformation of adenomas. In this context, considering the significance of APC germline mutations in FAP, we aimed to identify APC germline mutations. In the present study, 20 FAP patients were enrolled. The determination of APC germline mutations was performed using sequencing, and the mutations were compared with clinical markers (gender, age at diagnosis, smoking habits, TNM stage, Astler‑Coller stage, degree of differentiation of adenocarcinoma). The data were compared using the SPSS program, with the Fisher's exact test and χ2 test, considering α=0.05. According to the main results in our sample, 16 alleles with deleterious mutations (80% of the patients) were identified while 7 (35%) patients had no deleterious mutations. There was a predominance of nonsense (45% of the patients) and frameshift (20% of the patients) mutations. There was no statistical significance between the APC germline mutations identified and the clinical variables considered in our study. Only TNM stage was associated with the presence of deleterious mutations. Patients with deleterious mutations had an OR, 0.086 (IC=0.001-0.984); TNM stage I + II in comparison with III + IV, when compared with the patients with no deleterious mutations identified. In this context, as a conclusion, we demonstrated the molecular heterogeneity of APC germline mutations in FAP and the difficulty to perform molecular diagnostics in a Brazilian population, considering the admixed population analyzed.
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Copy and paste a formatted citation
Spandidos Publications style
Rossanese LB, Marson FA, Ribeiro JD, Coy CS and Bertuzzo CS: APC germline mutations in families with familial adenomatous polyposis. Oncol Rep 30: 2081-2088, 2013.
APA
Rossanese, L.B., Marson, F.A., Ribeiro, J.D., Coy, C.S., & Bertuzzo, C.S. (2013). APC germline mutations in families with familial adenomatous polyposis. Oncology Reports, 30, 2081-2088. https://doi.org/10.3892/or.2013.2681
MLA
Rossanese, L. B., Marson, F. A., Ribeiro, J. D., Coy, C. S., Bertuzzo, C. S."APC germline mutations in families with familial adenomatous polyposis". Oncology Reports 30.5 (2013): 2081-2088.
Chicago
Rossanese, L. B., Marson, F. A., Ribeiro, J. D., Coy, C. S., Bertuzzo, C. S."APC germline mutations in families with familial adenomatous polyposis". Oncology Reports 30, no. 5 (2013): 2081-2088. https://doi.org/10.3892/or.2013.2681
Copy and paste a formatted citation
x
Spandidos Publications style
Rossanese LB, Marson FA, Ribeiro JD, Coy CS and Bertuzzo CS: APC germline mutations in families with familial adenomatous polyposis. Oncol Rep 30: 2081-2088, 2013.
APA
Rossanese, L.B., Marson, F.A., Ribeiro, J.D., Coy, C.S., & Bertuzzo, C.S. (2013). APC germline mutations in families with familial adenomatous polyposis. Oncology Reports, 30, 2081-2088. https://doi.org/10.3892/or.2013.2681
MLA
Rossanese, L. B., Marson, F. A., Ribeiro, J. D., Coy, C. S., Bertuzzo, C. S."APC germline mutations in families with familial adenomatous polyposis". Oncology Reports 30.5 (2013): 2081-2088.
Chicago
Rossanese, L. B., Marson, F. A., Ribeiro, J. D., Coy, C. S., Bertuzzo, C. S."APC germline mutations in families with familial adenomatous polyposis". Oncology Reports 30, no. 5 (2013): 2081-2088. https://doi.org/10.3892/or.2013.2681
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