Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome |
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| Authors: | Roberto T. Zori Debbie J. Marsh Gail E. Graham Errol B. Marliss Charis Eng |
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| Affiliation: | Translational Research Laboratory, Charles A. Dana Human Cancer Genetics Unit, Department of Adult Oncology, Dana-Farber Cancer Institute, Department of Medicine, Harvard Medical School, Boston, Massachusetts |
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| Abstract: | Clinical overlap between Cowden disease and Bannayan-Riley-Ruvalcaba syndrome has rarely been described and identical germline mutations in the PTEN gene have been demonstrated in a few families with Cowden disease and some cases of Bannayan-Riley-Ruvalcaba syndrome. We report on a mother with Cowden disease and a son with Bannayan-Riley-Ruvalcaba syndrome. Mutation analysis of the PTEN gene demonstrated a heterozygous nonsense mutation R130X in both individuals. This might suggest that Cowden disease and Bannayan-Riley-Ruvalcaba syndrome are one causal entity. Am. J. Med. Genet. 80:399–402, 1998. © 1998 Wiley-Liss, Inc. |
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| Keywords: | Cowden disease Bannayan-Riley-Ruvalcaba syndrome PTEN thyroid cancer polyposis Bannayan-Zonana syndrome Ruvalcaba-Myhre syndrome |
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