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International Journal of Oncology
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Print ISSN: 1019-6439 Online ISSN: 1791-2423
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June 1993 Volume 2 Issue 6

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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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June 1993 Volume 2 Issue 6

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Article

APC GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS-COLI IDENTIFIED AT THE DNA AND PROTEIN LEVEL

  • Authors:
    • C KRAUS
    • I SCHNEIDER
    • E GEBHART
    • WG BALLHAUSEN

  • View Affiliations / Copyright

    Affiliations: UNIV ERLANGEN NURNBERG,INST HUMAN GENET,SCHWABACHANLAGE 10,W-8520 ERLANGEN,GERMANY. UNIV ERLANGEN NURNBERG,CHIRURG KLIN,W-8520 ERLANGEN,GERMANY.
  • Pages: 1039-1042
    |
    Published online on: June 1, 1993
       https://doi.org/10.3892/ijo.2.6.1039
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Abstract

Peripheral blood cell DNA of patients suffering from Familial Adenomatous Polyposis coli (FAP) were subjected to SSCP screening analyses. Here, we report on a patient, who was diagnosed at the age of 31 years suffering from a severe form of adenomatous polyposis coli. The germline mutation was identified to result from a 5-bp germline microdeletion surrounding Adenomatous Polyposis Coli (APC) codon 1309. Examination of DNA derived from pooled adenomas of the same patient confirmed the inherited mutation. Western blot analysis with an APC N-terminus specific antiserum (anti-APC123) applied to tumor-derived proteins identified a polypeptide chain of 140 kD corresponding to the truncation induced by the APC germline mutation. We further examined DNA isolated individually from eight adenomas of the same patient. The analysis revealed the surprising observation, that three out of eight tumor samples analyzed, gave rise to a predominant PCR-amplified band of normal size, implicating that the allele containing the germline deletion had been lost, and instead hemi-/homozygosity for the somatic, not for the germline mutation had been aquired as a tertiary event. A similar mutational mechanism has been reported for the Rb-1 tumor suppressor gene in the retinoblastoma model.

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Copy and paste a formatted citation
Spandidos Publications style
KRAUS C, SCHNEIDER I, GEBHART E and BALLHAUSEN W: APC GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS-COLI IDENTIFIED AT THE DNA AND PROTEIN LEVEL. Int J Oncol 2: 1039-1042, 1993.
APA
KRAUS, C., SCHNEIDER, I., GEBHART, E., & BALLHAUSEN, W. (1993). APC GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS-COLI IDENTIFIED AT THE DNA AND PROTEIN LEVEL. International Journal of Oncology, 2, 1039-1042. https://doi.org/10.3892/ijo.2.6.1039
MLA
KRAUS, C., SCHNEIDER, I., GEBHART, E., BALLHAUSEN, W."APC GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS-COLI IDENTIFIED AT THE DNA AND PROTEIN LEVEL". International Journal of Oncology 2.6 (1993): 1039-1042.
Chicago
KRAUS, C., SCHNEIDER, I., GEBHART, E., BALLHAUSEN, W."APC GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS-COLI IDENTIFIED AT THE DNA AND PROTEIN LEVEL". International Journal of Oncology 2, no. 6 (1993): 1039-1042. https://doi.org/10.3892/ijo.2.6.1039
Copy and paste a formatted citation
x
Spandidos Publications style
KRAUS C, SCHNEIDER I, GEBHART E and BALLHAUSEN W: APC GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS-COLI IDENTIFIED AT THE DNA AND PROTEIN LEVEL. Int J Oncol 2: 1039-1042, 1993.
APA
KRAUS, C., SCHNEIDER, I., GEBHART, E., & BALLHAUSEN, W. (1993). APC GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS-COLI IDENTIFIED AT THE DNA AND PROTEIN LEVEL. International Journal of Oncology, 2, 1039-1042. https://doi.org/10.3892/ijo.2.6.1039
MLA
KRAUS, C., SCHNEIDER, I., GEBHART, E., BALLHAUSEN, W."APC GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS-COLI IDENTIFIED AT THE DNA AND PROTEIN LEVEL". International Journal of Oncology 2.6 (1993): 1039-1042.
Chicago
KRAUS, C., SCHNEIDER, I., GEBHART, E., BALLHAUSEN, W."APC GENE-MUTATIONS IN FAMILIAL ADENOMATOUS POLYPOSIS-COLI IDENTIFIED AT THE DNA AND PROTEIN LEVEL". International Journal of Oncology 2, no. 6 (1993): 1039-1042. https://doi.org/10.3892/ijo.2.6.1039
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