Bannayan-Riley-Ruvalcaba syndrome pathophysiology: Difference between revisions

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==Overview==
==Overview==
The exact pathogenesis of [disease name] is not fully understood.
[[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 (gene)|PTEN]] track backs to 10q23 which encodes and plays a significant role


OR
==Pathophysiology==
 
It is thought that [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
 
OR


[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
=== Genetics ===
 
OR
 
Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
 
OR
 
 
[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
 
OR
 
The progression to [disease name] usually involves the [molecular pathway].
 
OR
 
The pathophysiology of [disease/malignancy] depends on the histological subtype.
 
==Pathophysiology==
===Physiology===
The normal physiology of [name of process] can be understood as follows:


===Pathogenesis===
===Pathogenesis===
*The exact pathogenesis of [disease name] is not completely understood.
*Bannayan-Riley-Ruvalcaba syndrome (BRRS) is transmitted in [[autosomal dominant]] pattern, but sporadic cases have been reported.
OR
*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 [disease name] is the result of / is mediated by / is produced by / is caused by either [hypothesis 1], [hypothesis 2], or [hypothesis 3].
*It is understood that [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS) is the result caused by the following gene [[mutations]]:<ref name="pmid10923032">{{cite journal |vauthors=Bonneau D, Longy M |title=Mutations of the human PTEN gene |journal=Hum. Mutat. |volume=16 |issue=2 |pages=109–22 |date=2000 |pmid=10923032 |doi=10.1002/1098-1004(200008)16:2<109::AID-HUMU3>3.0.CO;2-0 |url=}}</ref><ref name="pmid21659347">{{cite journal |vauthors=Pilarski R, Stephens JA, Noss R, Fisher JL, Prior TW |title=Predicting PTEN mutations: an evaluation of Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome clinical features |journal=J. Med. Genet. |volume=48 |issue=8 |pages=505–12 |date=August 2011 |pmid=21659347 |doi=10.1136/jmg.2011.088807 |url=}}</ref><ref name="pmid17526800">{{cite journal |vauthors=Lachlan KL, Lucassen AM, Bunyan D, Temple IK |title=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 |journal=J. Med. Genet. |volume=44 |issue=9 |pages=579–85 |date=September 2007 |pmid=17526800 |pmc=2597943 |doi=10.1136/jmg.2007.049981 |url=}}</ref>
*[Pathogen name] is usually transmitted via the [transmission route] route to the human host.
**[[Germline]] [[phosphatase]] and
*Following transmission/ingestion, the [pathogen] uses the [entry site] to invade the [cell name] cell.
**Tensin homolog (''[[PTEN (gene)|PTEN]]'') [[mutations]].
*[Disease or malignancy name] arises from [cell name]s, which are [cell type] cells that are normally involved in [function of cells].
*Patients who have [[Bannayan-Riley-Ruvalcaba syndrome]] (BRRS), have a positive association with ''[[PTEN (gene)|PTEN]]'' [[mutations]] in 55 to 60 % of cases.<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>
*The progression to [disease name] usually involves the [molecular pathway].
*[[PTEN (gene)|PTEN]] track backs to 10q23 which encodes and plays a significant role in the following:<ref name="BhargavaAu Yong2013">{{cite journal|last1=Bhargava|first1=R.|last2=Au Yong|first2=K. J.|last3=Leonard|first3=N.|title=Bannayan-Riley-Ruvalcaba Syndrome: MRI Neuroimaging Features in a Series of 7 Patients|journal=American Journal of Neuroradiology|volume=35|issue=2|year=2013|pages=402–406|issn=0195-6108|doi=10.3174/ajnr.A3680}}</ref><ref name="pmid12938083">{{cite journal |vauthors=Eng C |title=PTEN: one gene, many syndromes |journal=Hum. Mutat. |volume=22 |issue=3 |pages=183–98 |date=September 2003 |pmid=12938083 |doi=10.1002/humu.10257 |url=}}</ref>
*The pathophysiology of [disease/malignancy] depends on the histological subtype.
**[[Phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase|Phosphatidylinositol 3,4,5-triphosphate]], a [[phospholipid]] in the [[phosphatidylinositol]] 3-[[kinase]] pathway/Akt pathway
 
**Effects [[G1]] [[cell cycle]] arrest and [[apoptosis]]
==Genetics==
**[[Cellular]] [[proliferation]] and
[Disease name] is transmitted in [mode of genetic transmission] pattern.
**Migration
 
OR
 
Genes involved in the pathogenesis of [disease name] include:
*[Gene1]
*[Gene2]
*[Gene3]
 
OR
 
The development of [disease name] is the result of multiple genetic mutations such as:
 
*[Mutation 1]
*[Mutation 2]
*[Mutation 3]
 
==Associated Conditions==
Conditions associated with [disease name] include:
 
*[Condition 1]
*[Condition 2]
*[Condition 3]
 
==Gross Pathology==
On gross pathology, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
 
==Microscopic Pathology==
On microscopic histopathological analysis, [feature1], [feature2], and [feature3] are characteristic findings of [disease name].
 
==References==
==References==
{{Reflist|2}}
{{Reflist|2}}

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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

References

  1. ↑ 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.
  2. ↑ 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.
  3. ↑ 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.
  4. ↑ 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.
  5. ↑ 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.
  6. ↑ Eng C (September 2003). "PTEN: one gene, many syndromes". Hum. Mutat. 22 (3): 183–98. doi:10.1002/humu.10257. PMID 12938083.

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