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Cowden syndrome
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References
These sources were used to develop the Genetics Home Reference
condition summary
on Cowden syndrome.
de Jong MM, Nolte IM, te Meerman GJ, van der Graaf WT, Oosterwijk JC, Kleibeuker JH, Schaapveld M, de Vries EG. Genes other than BRCA1 and BRCA2 involved in breast cancer susceptibility. J Med Genet. 2002 Apr;39(4):225-42. Review.
PubMed citation
Eng C. Will the real Cowden syndrome please stand up: revised diagnostic criteria. J Med Genet. 2000 Nov;37(11):828-30. No abstract available.
PubMed citation
Gene Review
Kelly P. Hereditary breast cancer considering Cowden syndrome: a case study. Cancer Nurs. 2003 Oct;26(5):370-5.
PubMed citation
Pilarski R, Eng C. Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet. 2004 May;41(5):323-6. Review. No abstract available.
PubMed citation
Waite KA, Eng C. Protean PTEN: form and function. Am J Hum Genet. 2002 Apr;70(4):829-44. Review.
PubMed citation
Zhou XP, Waite KA, Pilarski R, Hampel H, Fernandez MJ, Bos C, Dasouki M, Feldman GL, Greenberg LA, Ivanovich J, Matloff E, Patterson A, Pierpont ME, Russo D, Nassif NT, Eng C. Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley-Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway. Am J Hum Genet. 2003 Aug;73(2):404-11. Epub 2003 Jul 03.
PubMed citation
Reviewed: March 2006
Published: January 23, 2009