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References

These sources were used to develop the Genetics Home Reference condition summary on Bannayan-Riley-Ruvalcaba syndrome.

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Gene Review: PTEN Hamartoma Tumor Syndrome (PHTS)
Hobert JA, Eng C. PTEN hamartoma tumor syndrome: an overview. Genet Med. 2009 Oct;11(10):687-94. doi: 10.1097/GIM.0b013e3181ac9aea. Review. PubMed citation
Lynch NE, Lynch SA, McMenamin J, Webb D. Bannayan-Riley-Ruvalcaba syndrome: a cause of extreme macrocephaly and neurodevelopmental delay. Arch Dis Child. 2009 Jul;94(7):553-4. doi: 10.1136/adc.2008.155663. Epub 2009 Mar 25. PubMed citation
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Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM Jr, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C, et al. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet. 1999 Aug;8(8):1461-72. PubMed citation
Parisi MA, Dinulos MB, Leppig KA, Sybert VP, Eng C, Hudgins L. The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet. 2001 Jan;38(1):52-8. PubMed citation
Zbuk KM, Eng C. Cancer phenomics: RET and PTEN as illustrative models. Nat Rev Cancer. 2007 Jan;7(1):35-45. Epub 2006 Dec 14. 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 3. PubMed citation


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