Bannayan-Riley-Ruvalcaba syndrome classification: Difference between revisions
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==Classification== | ==Classification== | ||
[[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is one of the syndrome which belong to [[PTEN (gene)|PTEN]] [[hamartoma]] tumor syndromes (PHTS). These syndrome has been due to [[somatic]] [[mutation]] in [[phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') gene. All [[PTEN (gene)|PTEN]] hamartoma tumor syndromes (PHTS) follow [[autosomal dominant]] pattern of [[inheritance]]. [[PTEN (gene)|PTEN]][[hamartoma]] [[tumor]] [[syndromes]] (PHTS) include the following: | [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is one of the syndrome which belong to [[PTEN (gene)|PTEN]] [[hamartoma]] tumor syndromes (PHTS). These syndrome has been due to [[somatic]] [[mutation]] in [[phosphatase]] and tensin homolog (''[[PTEN (gene)|PTEN]]'') gene. All [[PTEN (gene)|PTEN]] hamartoma tumor syndromes (PHTS) follow [[autosomal dominant]] pattern of [[inheritance]]. [[PTEN (gene)|PTEN]][[hamartoma]] [[tumor]] [[syndromes]] (PHTS) include the following:<ref name="pmid10400993">{{cite journal |vauthors=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 |title=PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome |journal=Hum. Mol. Genet. |volume=8 |issue=8 |pages=1461–72 |date=August 1999 |pmid=10400993 |doi= |url=}}</ref> | ||
* [[Cowden syndrome]] | * [[Cowden syndrome]] | ||
* [[Bannayan-Riley-Ruvalcaba syndrome]] | * [[Bannayan-Riley-Ruvalcaba syndrome]] | ||
Revision as of 15:50, 19 April 2019
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
There is no established system for the classification of Bannayan-Riley-Ruvalcaba syndrome (BRRS).
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.