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:<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><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> | [[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><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><ref name="pmid9467011">{{cite journal |vauthors=Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C |title=Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation |journal=Hum. Mol. Genet. |volume=7 |issue=3 |pages=507–15 |date=March 1998 |pmid=9467011 |doi= |url=}}</ref> | ||
* [[Cowden syndrome]] | * [[Cowden syndrome]] | ||
* [[Bannayan-Riley-Ruvalcaba syndrome]] | * [[Bannayan-Riley-Ruvalcaba syndrome]] | ||
Latest revision as of 15:58, 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
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][2][3]
- 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.
- ↑ 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, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PL, Zheng Z, Liaw D, Caron S, Duboué B, Lin AY, Richardson AL, Bonnetblanc JM, Bressieux JM, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker JP, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, Eng C (March 1998). "Mutation spectrum and genotype-phenotype analyses in Cowden disease and Bannayan-Zonana syndrome, two hamartoma syndromes with germline PTEN mutation". Hum. Mol. Genet. 7 (3): 507–15. PMID 9467011.