## 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
PTEN mutation in a family with Cowden syndrome and autism
โ Scribed by Goffin, Aleide ;Hoefsloot, Lies H. ;Bosgoed, Ermanno ;Swillen, Ann ;Fryns, Jean-Pierre
- Publisher
- John Wiley and Sons
- Year
- 2001
- Tongue
- English
- Weight
- 107 KB
- Volume
- 105
- Category
- Article
- ISSN
- 0148-7299
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Cowden disease (CD) is a rare, autosomal dominant inherited cancer syndrome characterized by multiple benign and malignant lesions in a wide spectrum of tissues. While individuals with CD have an increased risk of breast and thyroid neoplasms, the primary features of CD are hamartomas. The gene for
## Germline mutations of the PTEN gene are involved in Cowden disease, a genetic condition associated with an increased risk of breast cancer. Further somatic PTEN mutations have been found in glioblastomas and to a lesser extent in meningiomas. Therefore, PTEN germline mutations were searched for