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Cowden's disease. A case report with analyses at the molecular level
1Department of Surgery, Memorial Sloan-Kettering Cancer Center, New York, New York 10021.
Cancer
|June 15, 1992
Summary
Cowden's disease, a genetic disorder, involves hamartomas and a high risk of breast and thyroid cancer. Key breast cancer genes were found to be unamplified and unrearranged in a patient with this syndrome.
Area of Science:
- Genetics
- Oncology
Background:
- Cowden's disease (multiple hamartoma syndrome) is an autosomal dominant disorder characterized by hamartomas and increased cancer risk.
- The genetic basis for Cowden's disease and its association with breast cancer remains unclear.
Observation:
- This study reports on a Cowden's disease patient, analyzing three key genes implicated in breast cancer: HER-2/neu, ras, and pS-2.
- These genes were found to be in a single, unamplified, and unrearranged state in the patient.
Findings:
- The analysis revealed no amplification or rearrangement of the HER-2/neu, ras, or pS-2 genes in the Cowden's disease patient.
- This finding is noteworthy as these genes are crucial in sporadic breast cancer research.
Implications:
- Early identification of Cowden's disease through mucocutaneous lesions and family history is vital.
- Prophylactic mastectomy by age 30 is recommended, with alternatives including intensive screening and regular biopsies.