References

DiLiberti JH. Inherited macrocephaly-hamartoma syndromes. Am J Med Genet 1998: 79: 284-290
Gorlin RJ, Cohen MM, Condon LM, Burke BA. Bannyan-Riley-Ruvalcaba sydrome. Am J Med Gent 1992: 44: 307-314
Heald, B, Mester, J., Rybicki, L., Orloff, M.S., Burke, C.A, and Eng, C. Frequent Gastrointestinal Polyps and Colorectal Adenocarcinomas in Prospective Series of PTEN Mutation Carriers. Gastroenterology, epub 27 Jun 2010.
Jones, Kenneth Lyons. Smith's Recognizable Patterns of human Malformation. 5th Ed., WB Sanders Co 1997: 522-523.
National Comprehensive Cancer Network.  Clinical Practice Guidelines in Oncology - Genetic/Familial High-Risk Assessment: Breast and Ovarian. http://www.nccn.org/professionals/physician_gls/PDF/genetics_screening.pdf
Pilarski, R. Cowden syndrome: a Critical Review of the Clinical Literature. J Genet Counsel 2009;18:13-27.
Pilarski, R., Stephens, J., Noss, R., Fisher J.L. and Prior, T (2011). Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Ruvalcaba-Riley syndrome clinical features.

Credits

2010 Revisions by:
Joy Larsen Haidle, MS, CGC, Genetic Counselor, Humphrey Cancer Center
Heather Hampel, MS, CGC, Genetic Counselor, Clinical Cancer Genetics Program and Division of Human Genetics, The Ohio State University
Robert Pilarski, MS, CGC, MSW, LSW, Genetic Counselor, Clinical Cancer Genetics Program and Division of Human Genetics, The Ohio State University
Original Version Written by:
Sarah Burton, University of Iowa Health Care
Joy Larsen Haidle, MS, CGC
Heather Hampel, MS, CGC,
Illustrations by Terry Demmer

Special Thanks to:

University of Iowa Health Care Division of Medical Genetics

Return to BRRS Patient Guide index