doi: 10.1016/s0140-6736(01)05412-5.
Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes
- PMID: 11476841
- DOI: 10.1016/s0140-6736(01)05412-5
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Association of germline mutation in the PTEN tumour suppressor gene and Proteus and Proteus-like syndromes
Lancet.
.
Abstract
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 de-novo germline mutations in two of nine patients with PS and three of five patients with PS-like. Germline PTEN mutation analysis should be done in individuals with PS and PS-like because of its association with increased risk of cancer development and potential of germline-mutation transmission.
Comment in
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PTEN mutations and proteus syndrome.Lancet. 2001 Dec 15;358(9298):2079-80. doi: 10.1016/S0140-6736(01)07109-4. Lancet. 2001. PMID: 11755638 No abstract available.
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