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Gardner's syndrome: six generations

T H Palmer

    American Journal of Surgery
    |April 1, 1982
    PubMed
    Summary
    This summary is machine-generated.

    This study investigates a large family with a high prevalence of colorectal polyposis and cancer across six generations. Findings highlight a significant hereditary component for these conditions, often accompanied by extracolonic manifestations.

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    Area of Science:

    • Genetics and Genomics
    • Gastroenterology
    • Oncology

    Background:

    • Investigated a six-generation family (68 members) to understand the inheritance patterns of colorectal polyposis and cancer.
    • Previous generations show a high incidence of colorectal cancer, indicating a potential genetic predisposition.

    Observation:

    • 23 out of 68 family members exhibit colorectal polyposis, cancer, or both.
    • Associated extracolonic features include soft tissue lesions, mandibular osteomas, and dental abnormalities.
    • High prevalence observed across multiple generations, with affected individuals in the most recent generation.

    Findings:

    • A significant number of siblings and their offspring present with diffuse colorectal polyposis and extracolonic signs.
    • Historical data reveals a high mortality rate from colon cancer in earlier generations.

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  • Later generations show a reduced, but still notable, incidence of colorectal cancer mortality.

    • Implications:

    • Suggests a strong hereditary component for colorectal polyposis and cancer within this family.
    • The presence of extracolonic manifestations may aid in early identification and diagnosis.
    • Surgical interventions like colectomy and coloproctectomy are employed, necessitating long-term patient follow-up.