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Cowden’s syndrome 

Cowden’s syndrome
Chapter:
Cowden’s syndrome
Author(s):

Charis Eng

DOI:
10.1093/med/9780199235292.003.0713
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date: 24 October 2021

Cowden’s syndrome (OMIM 158350), named after Rachel Cowden, is an autosomal dominant inherited cancer syndrome characterized by multiple hamartomas involving organ systems derived from all three germ cell layers and a risk of breast and thyroid cancers (1, 2). Endocrinologists may make the diagnosis of Cowden’s syndrome when they are presented with these patients’ endocrine lesions, chief of which are multinodular goitre, thyroid adenomas, and epithelial thyroid cancer. The Cowden’s syndrome susceptibility gene, PTEN, is located on chromosome sub-band 10q23.3 (3, 4).

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