Journal
LANCET
Volume 358, Issue 9277, Pages 210-211Publisher
LANCET LTD
DOI: 10.1016/S0140-6736(01)05412-5
Keywords
-
Categories
Funding
- NCI NIH HHS [P30CA16058] Funding Source: Medline
Ask authors/readers for more resources
The molecular aetiology of Proteus syndrome (PS) remains elusive. Germline mutations in PTEN cause Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, which are hereditary hamartoma syndromes. Some features-eg, macrocephaly, lipomatosis, and vascular malformations-can be seen in all three syndromes. We examined PTEN in patients with PS and undefined Proteus-like syndromes (PS-like) and identified denovo germline mutations in two of nine patients with PS and three of five patients with FS-like. Germline PTEN mutation analysis should be done in individuals with FS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available