Germline Epigenetic Regulation of KILLIN in Cowden and Cowden-like Syndrome
Open Access
- 22 December 2010
- journal article
- Published by American Medical Association (AMA) in JAMA
- Vol. 304 (24), 2724-2731
- https://doi.org/10.1001/jama.2010.1877
Abstract
Germline mutations of the phosphatase and tensin homolog (PTEN) gene (UCSC ID, uc001kfb.2; RefSeq, NM_000314), encoding deleted on chromosome 10,1 cause 80% of autosomal-dominant Cowden syndrome and occur in 1 in 200 000 live births. These mutations are characterized by macrocephaly and typical mucocutaneous features (trichilemmomas, papillomatous papules) and hamartomas, with increased risk of various malignancies, approximately 10% lifetime risk for thyroid cancer, and as much as 50% lifetime risk for female breast cancer over the general population.1-8Keywords
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