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GermlinePTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba Syndrome

✍ Scribed by Zori, Roberto T.; Marsh, Debbie J.; Graham, Gail E.; Marliss, Errol B.; Eng, Charis

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 16 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981204)80:4<399::aid-ajmg18>3.0.co;2-o

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✦ Synopsis

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.

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