18 Direct Sequencing for Cowden Syndrome Gene PTEN (MMAC1) Mutations
1Department of Medical Genetics, University of Helsinki, Finland.
Methods in Molecular Medicine
|February 15, 2011
Summary
Cowden syndrome is a rare genetic disorder. It increases the risk of intestinal polyps and cancers, particularly in the breast and thyroid, alongside other distinct features.
Area of Science:
- Genetics
- Oncology
- Dermatology
Background:
- Cowden syndrome is an autosomal dominant disorder.
- Characterized by hamartomatous polyposis and increased cancer risk.
- Associated with macrocephaly, cerebellar abnormalities, and skin tumors.
Purpose of the Study:
- To summarize the key features of Cowden syndrome.
- To highlight the spectrum of associated neoplasms.
- To describe the characteristic non-neoplastic manifestations.
Main Methods:
- Literature review of Cowden syndrome.
- Analysis of clinical and pathological findings.
- Synthesis of diagnostic criteria and management considerations.
Main Results:
- Cowden syndrome presents with a high risk of breast, thyroid, and other cancers.
- Intestinal hamartomatous polyposis is a common gastrointestinal manifestation.
- Macrocephaly, ataxia, and trichilemmomas are key diagnostic features.
Conclusions:
- Early diagnosis and surveillance are crucial for Cowden syndrome patients.
- Multidisciplinary management is essential to address diverse clinical manifestations.
- Understanding the genetic basis aids in risk stratification and genetic counseling.
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