Bannayan-Riley-Ruvalcaba syndrome pathophysiology
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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 transmitted in autosomal dominant pattern. It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is the result caused gene mutations. PTEN track backs to 10q23 which encodes and plays a significant role
Pathophysiology
Genetics
Pathogenesis
- Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in autosomal dominant pattern, but sporadic cases have been reported.
- The disease belongs to a family of hamartomatous polyposis syndromes, which also includes Peutz-Jeghers syndrome, juvenile polyposis and Cowden syndrome.
- It is understood that Bannayan-Riley-Ruvalcaba syndrome (BRRS) is the result caused by the following gene mutations:[1][2][3]
- Germline phosphatase and
- Tensin homolog (PTEN) mutations.
- Patients who have Bannayan-Riley-Ruvalcaba syndrome (BRRS), have a positive association with PTEN mutations in 55 to 60 % of cases.[4]
- PTEN track backs to 10q23 which encodes and plays a significant role in the following:[5][6]
- Phosphatidylinositol 3,4,5-triphosphate, a phospholipid in the phosphatidylinositol 3-kinase pathway/Akt pathway
- Effects G1 cell cycle arrest and apoptosis
- Cellular proliferation and
- Migration
References
- ↑ Bonneau D, Longy M (2000). "Mutations of the human PTEN gene". Hum. Mutat. 16 (2): 109–22. doi:10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0. PMID 10923032.
- ↑ Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW (August 2011). "Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features". J. Med. Genet. 48 (8): 505–12. doi:10.1136/jmg.2011.088807. PMID 21659347.
- ↑ Lachlan KL, Lucassen AM, Bunyan D, Temple IK (September 2007). "Cowden syndrome and Bannayan Riley Ruvalcaba syndrome represent one condition with variable expression and age-related penetrance: results of a clinical study of PTEN mutation carriers". J. Med. Genet. 44 (9): 579–85. doi:10.1136/jmg.2007.049981. PMC 2597943. PMID 17526800.
- ↑ 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.
- ↑ Bhargava, R.; Au Yong, K. J.; Leonard, N. (2013). "Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients". American Journal of Neuroradiology. 35 (2): 402–406. doi:10.3174/ajnr.A3680. ISSN 0195-6108.
- ↑ Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.