Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome

Abstract Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the...
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Autor*in:	Paparo, Lorella [verfasserIn] Rossi, Giovanni Battista Delrio, Paolo Rega, Daniela Duraturo, Francesca Liccardo, Raffaella Debellis, Mario Izzo, Paola De Rosa, Marina

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2013

Schlagwörter:	PTEN hamartoma tumour syndrome (PHTS) Cowden syndrome (CS) Bannayan-riley-ruvalcaba syndrome (BRRS) Sporadic pheochromocytoma Macrocephaly tumour suppressor gene Haploinsufficiency

Anmerkung:	© Paparo et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (

Übergeordnetes Werk:	Enthalten in: Hereditary cancer in clinical practice - Berlin : Springer, 2003, 11(2013), 1 vom: 25. Juli
Übergeordnetes Werk:	volume:11 ; year:2013 ; number:1 ; day:25 ; month:07

Links:	Volltext

DOI / URN:	10.1186/1897-4287-11-8

Katalog-ID:	SPR029724147

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520			\|a Abstract Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer.
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700	1		\|a Debellis, Mario \|4 aut
700	1		\|a Izzo, Paola \|4 aut
700	1		\|a De Rosa, Marina \|4 aut
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allfields	10.1186/1897-4287-11-8 doi (DE-627)SPR029724147 (SPR)1897-4287-11-8-e DE-627 ger DE-627 rakwb eng Paparo, Lorella verfasserin aut Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Paparo et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer. PTEN hamartoma tumour syndrome (PHTS) (dpeaa)DE-He213 Cowden syndrome (CS) (dpeaa)DE-He213 Bannayan-riley-ruvalcaba syndrome (BRRS) (dpeaa)DE-He213 Sporadic pheochromocytoma (dpeaa)DE-He213 Macrocephaly (dpeaa)DE-He213 tumour suppressor gene (dpeaa)DE-He213 Haploinsufficiency (dpeaa)DE-He213 Rossi, Giovanni Battista aut Delrio, Paolo aut Rega, Daniela aut Duraturo, Francesca aut Liccardo, Raffaella aut Debellis, Mario aut Izzo, Paola aut De Rosa, Marina aut Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 11(2013), 1 vom: 25. Juli (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:11 year:2013 number:1 day:25 month:07 https://dx.doi.org/10.1186/1897-4287-11-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2013 1 25 07
spelling	10.1186/1897-4287-11-8 doi (DE-627)SPR029724147 (SPR)1897-4287-11-8-e DE-627 ger DE-627 rakwb eng Paparo, Lorella verfasserin aut Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Paparo et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer. PTEN hamartoma tumour syndrome (PHTS) (dpeaa)DE-He213 Cowden syndrome (CS) (dpeaa)DE-He213 Bannayan-riley-ruvalcaba syndrome (BRRS) (dpeaa)DE-He213 Sporadic pheochromocytoma (dpeaa)DE-He213 Macrocephaly (dpeaa)DE-He213 tumour suppressor gene (dpeaa)DE-He213 Haploinsufficiency (dpeaa)DE-He213 Rossi, Giovanni Battista aut Delrio, Paolo aut Rega, Daniela aut Duraturo, Francesca aut Liccardo, Raffaella aut Debellis, Mario aut Izzo, Paola aut De Rosa, Marina aut Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 11(2013), 1 vom: 25. Juli (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:11 year:2013 number:1 day:25 month:07 https://dx.doi.org/10.1186/1897-4287-11-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2013 1 25 07
allfields_unstemmed	10.1186/1897-4287-11-8 doi (DE-627)SPR029724147 (SPR)1897-4287-11-8-e DE-627 ger DE-627 rakwb eng Paparo, Lorella verfasserin aut Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Paparo et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer. PTEN hamartoma tumour syndrome (PHTS) (dpeaa)DE-He213 Cowden syndrome (CS) (dpeaa)DE-He213 Bannayan-riley-ruvalcaba syndrome (BRRS) (dpeaa)DE-He213 Sporadic pheochromocytoma (dpeaa)DE-He213 Macrocephaly (dpeaa)DE-He213 tumour suppressor gene (dpeaa)DE-He213 Haploinsufficiency (dpeaa)DE-He213 Rossi, Giovanni Battista aut Delrio, Paolo aut Rega, Daniela aut Duraturo, Francesca aut Liccardo, Raffaella aut Debellis, Mario aut Izzo, Paola aut De Rosa, Marina aut Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 11(2013), 1 vom: 25. Juli (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:11 year:2013 number:1 day:25 month:07 https://dx.doi.org/10.1186/1897-4287-11-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2013 1 25 07
allfieldsGer	10.1186/1897-4287-11-8 doi (DE-627)SPR029724147 (SPR)1897-4287-11-8-e DE-627 ger DE-627 rakwb eng Paparo, Lorella verfasserin aut Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Paparo et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer. PTEN hamartoma tumour syndrome (PHTS) (dpeaa)DE-He213 Cowden syndrome (CS) (dpeaa)DE-He213 Bannayan-riley-ruvalcaba syndrome (BRRS) (dpeaa)DE-He213 Sporadic pheochromocytoma (dpeaa)DE-He213 Macrocephaly (dpeaa)DE-He213 tumour suppressor gene (dpeaa)DE-He213 Haploinsufficiency (dpeaa)DE-He213 Rossi, Giovanni Battista aut Delrio, Paolo aut Rega, Daniela aut Duraturo, Francesca aut Liccardo, Raffaella aut Debellis, Mario aut Izzo, Paola aut De Rosa, Marina aut Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 11(2013), 1 vom: 25. Juli (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:11 year:2013 number:1 day:25 month:07 https://dx.doi.org/10.1186/1897-4287-11-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2013 1 25 07
allfieldsSound	10.1186/1897-4287-11-8 doi (DE-627)SPR029724147 (SPR)1897-4287-11-8-e DE-627 ger DE-627 rakwb eng Paparo, Lorella verfasserin aut Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome 2013 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © Paparo et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( Abstract Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer. PTEN hamartoma tumour syndrome (PHTS) (dpeaa)DE-He213 Cowden syndrome (CS) (dpeaa)DE-He213 Bannayan-riley-ruvalcaba syndrome (BRRS) (dpeaa)DE-He213 Sporadic pheochromocytoma (dpeaa)DE-He213 Macrocephaly (dpeaa)DE-He213 tumour suppressor gene (dpeaa)DE-He213 Haploinsufficiency (dpeaa)DE-He213 Rossi, Giovanni Battista aut Delrio, Paolo aut Rega, Daniela aut Duraturo, Francesca aut Liccardo, Raffaella aut Debellis, Mario aut Izzo, Paola aut De Rosa, Marina aut Enthalten in Hereditary cancer in clinical practice Berlin : Springer, 2003 11(2013), 1 vom: 25. Juli (DE-627)511229925 (DE-600)2233352-6 1897-4287 nnns volume:11 year:2013 number:1 day:25 month:07 https://dx.doi.org/10.1186/1897-4287-11-8 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_151 GBV_ILN_161 GBV_ILN_170 GBV_ILN_206 GBV_ILN_213 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_2003 GBV_ILN_2005 GBV_ILN_2007 GBV_ILN_2009 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2055 GBV_ILN_2111 GBV_ILN_4012 GBV_ILN_4037 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4249 GBV_ILN_4305 GBV_ILN_4306 GBV_ILN_4307 GBV_ILN_4313 GBV_ILN_4322 GBV_ILN_4323 GBV_ILN_4324 GBV_ILN_4325 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 11 2013 1 25 07
language	English
source	Enthalten in Hereditary cancer in clinical practice 11(2013), 1 vom: 25. Juli volume:11 year:2013 number:1 day:25 month:07
sourceStr	Enthalten in Hereditary cancer in clinical practice 11(2013), 1 vom: 25. Juli volume:11 year:2013 number:1 day:25 month:07
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	PTEN hamartoma tumour syndrome (PHTS) Cowden syndrome (CS) Bannayan-riley-ruvalcaba syndrome (BRRS) Sporadic pheochromocytoma Macrocephaly tumour suppressor gene Haploinsufficiency
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container_title	Hereditary cancer in clinical practice
authorswithroles_txt_mv	Paparo, Lorella @@aut@@ Rossi, Giovanni Battista @@aut@@ Delrio, Paolo @@aut@@ Rega, Daniela @@aut@@ Duraturo, Francesca @@aut@@ Liccardo, Raffaella @@aut@@ Debellis, Mario @@aut@@ Izzo, Paola @@aut@@ De Rosa, Marina @@aut@@
publishDateDaySort_date	2013-07-25T00:00:00Z
hierarchy_top_id	511229925
id	SPR029724147
language_de	englisch
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author	Paparo, Lorella
spellingShingle	Paparo, Lorella misc PTEN hamartoma tumour syndrome (PHTS) misc Cowden syndrome (CS) misc Bannayan-riley-ruvalcaba syndrome (BRRS) misc Sporadic pheochromocytoma misc Macrocephaly misc tumour suppressor gene misc Haploinsufficiency Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome
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topic_title	Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome PTEN hamartoma tumour syndrome (PHTS) (dpeaa)DE-He213 Cowden syndrome (CS) (dpeaa)DE-He213 Bannayan-riley-ruvalcaba syndrome (BRRS) (dpeaa)DE-He213 Sporadic pheochromocytoma (dpeaa)DE-He213 Macrocephaly (dpeaa)DE-He213 tumour suppressor gene (dpeaa)DE-He213 Haploinsufficiency (dpeaa)DE-He213
topic	misc PTEN hamartoma tumour syndrome (PHTS) misc Cowden syndrome (CS) misc Bannayan-riley-ruvalcaba syndrome (BRRS) misc Sporadic pheochromocytoma misc Macrocephaly misc tumour suppressor gene misc Haploinsufficiency
topic_unstemmed	misc PTEN hamartoma tumour syndrome (PHTS) misc Cowden syndrome (CS) misc Bannayan-riley-ruvalcaba syndrome (BRRS) misc Sporadic pheochromocytoma misc Macrocephaly misc tumour suppressor gene misc Haploinsufficiency
topic_browse	misc PTEN hamartoma tumour syndrome (PHTS) misc Cowden syndrome (CS) misc Bannayan-riley-ruvalcaba syndrome (BRRS) misc Sporadic pheochromocytoma misc Macrocephaly misc tumour suppressor gene misc Haploinsufficiency
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title	Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome
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title_full	Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome
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author_browse	Paparo, Lorella Rossi, Giovanni Battista Delrio, Paolo Rega, Daniela Duraturo, Francesca Liccardo, Raffaella Debellis, Mario Izzo, Paola De Rosa, Marina
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title_sort	differential expression of pten gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of pten hamartoma tumour syndrome
title_auth	Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome
abstract	Abstract Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer. © Paparo et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
abstractGer	Abstract Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer. © Paparo et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
abstract_unstemmed	Abstract Cowden syndrome (CS), Bannayan-Riley-Ruvalcaba syndrome (BRRS) and proteus syndrome are disorders known as PTEN hamartoma tumour syndrome (PHTS), that can show remarkable clinical overlap and are all caused by germline PTEN mutations. We here present two families, one affected by CS and the other affected by BRRS, both carriers of specific pathogenetic missense mutation in exon 5 of PTEN gene, within the catalitic domain. Both PHTS families exhibited extremely variable phenotypes, showing inter- and intra- familial variability. One of the two characterised mutations, the c.320A- > T; p.107Asp- > Val, identified in the CS family, was not previously described in the literature. Furthermore, the BRRS family, carrier of the c.406 T- > C; p.136Cys- > Arg mutation, shows a substantial alteration of PTEN protein expression that well correlates with intra-familial phenotypic variability. Finally, we describe an apparently sporadic case of an 80-year-old man, with a very low level of PTEN mRNA and protein expression, both in healthy and tumour colon mucosa, associated with a very atypical phenotype. He developed a metastatic colorectal carcinoma, macrocephaly and pheochromocytoma. According to literature data, our observations confirm that PTEN mutations of catalytic domain can cause different syndromes. We suggest that PTEN expression could represent one of the mechanisms involved in the remarkable heterogeneity of the clinical PHTS manifestations within affected families. Furthermore, constitutive strong decrease of PTEN expression in colon normal mucosa could be associated with late onset of colorectal cancer. © Paparo et al.; licensee BioMed Central Ltd. 2013. This article is published under license to BioMed Central Ltd. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (
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title_short	Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome
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Differential expression of PTEN gene correlates with phenotypic heterogeneity in three cases of patients showing clinical manifestations of PTEN hamartoma tumour syndrome

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