Bannayan-Riley-Ruvalcaba syndrome classification
Template:Bannayan-Riley-Ruvalcaba syndrome
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Vamsikrishna Gunnam M.B.B.S [2]
Overview
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the syndrome which belong to PTEN hamartoma tumor syndromes (PHTS).
Classification
Bannayan-Riley-Ruvalcaba syndrome (BRRS) is one of the syndrome which belong to PTEN hamartoma tumor syndromes (PHTS). These syndrome has been due to somatic mutation in phosphatase and tensin homolog (PTEN) gene. All PTEN hamartoma tumor syndromes (PHTS) follow autosomal dominant pattern of inheritance. PTENhamartoma tumor syndromes (PHTS) include the following:[1]
- Cowden syndrome
- Bannayan-Riley-Ruvalcaba syndrome
- Adult Lhermitte-Duclos disease
- Proteus syndrome
References
- ↑ Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dasouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KL, Parisi M, Pober B, Romano C, Eng C (August 1999). "PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome". Hum. Mol. Genet. 8 (8): 1461–72. PMID 10400993.