A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia

Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR)...
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Autor*in:	Paulo Vidal Campregher [verfasserIn] Roberta Cardoso Petroni [verfasserIn] Nair Hideko Muto [verfasserIn] Roberta Sitnik [verfasserIn] Flavia Pereira de Carvalho [verfasserIn] Nydia Strachman Bacal [verfasserIn] Elvira Deolinda Rodrigues Pereira Velloso [verfasserIn] Gislaine Borba Oliveira [verfasserIn] João Renato Rebello Pinho [verfasserIn] Davi Coe Torres [verfasserIn] Marcela Braga Mansur [verfasserIn] Rocio Hassan [verfasserIn] Irene Gyongyvér Heidemarie Lorand-Metze [verfasserIn] Carlos Sérgio Chiattone [verfasserIn] Nelson Hamerschlak [verfasserIn] Cristovão Luis Pitangueira Mangueira [verfasserIn]

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2016

Übergeordnetes Werk:	In: BioMed Research International - Hindawi Limited, 2013, (2016)
Übergeordnetes Werk:	year:2016

Links:	Link aufrufen Link aufrufen Link aufrufen Journal toc Journal toc

DOI / URN:	10.1155/2016/4247908

Katalog-ID:	DOAJ013079670

Internformat


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100	0		\|a Paulo Vidal Campregher \|e verfasserin \|4 aut
245	1	2	\|a A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia
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520			\|a Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of NOTCH1. Results. We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of NOTCH1 mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12. NOTCH1 mutations were detected in 43.7% of the patients with trisomy 12. Conclusions. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect NOTCH1 PEST domain insertions and deletions.
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700	0		\|a Flavia Pereira de Carvalho \|e verfasserin \|4 aut
700	0		\|a Nydia Strachman Bacal \|e verfasserin \|4 aut
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700	0		\|a Gislaine Borba Oliveira \|e verfasserin \|4 aut
700	0		\|a João Renato Rebello Pinho \|e verfasserin \|4 aut
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700	0		\|a Carlos Sérgio Chiattone \|e verfasserin \|4 aut
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700	0		\|a Cristovão Luis Pitangueira Mangueira \|e verfasserin \|4 aut
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912			\|a GBV_ILN_2153
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Indexfelder

author_variant	p v c pvc r c p rcp n h m nhm r s rs f p d c fpdc n s b nsb e d r p v edrpv g b o gbo j r r p jrrp d c t dct m b m mbm r h rh i g h l m ighlm c s c csc n h nh c l p m clpm
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allfields	10.1155/2016/4247908 doi (DE-627)DOAJ013079670 (DE-599)DOAJdbbc570dc4004022b3741a63fd6b5596 DE-627 ger DE-627 rakwb eng Paulo Vidal Campregher verfasserin aut A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of NOTCH1. Results. We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of NOTCH1 mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12. NOTCH1 mutations were detected in 43.7% of the patients with trisomy 12. Conclusions. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect NOTCH1 PEST domain insertions and deletions. Medicine R Roberta Cardoso Petroni verfasserin aut Nair Hideko Muto verfasserin aut Roberta Sitnik verfasserin aut Flavia Pereira de Carvalho verfasserin aut Nydia Strachman Bacal verfasserin aut Elvira Deolinda Rodrigues Pereira Velloso verfasserin aut Gislaine Borba Oliveira verfasserin aut João Renato Rebello Pinho verfasserin aut Davi Coe Torres verfasserin aut Marcela Braga Mansur verfasserin aut Rocio Hassan verfasserin aut Irene Gyongyvér Heidemarie Lorand-Metze verfasserin aut Carlos Sérgio Chiattone verfasserin aut Nelson Hamerschlak verfasserin aut Cristovão Luis Pitangueira Mangueira verfasserin aut In BioMed Research International Hindawi Limited, 2013 (2016) (DE-627)734738145 (DE-600)2698540-8 23146141 nnns year:2016 https://doi.org/10.1155/2016/4247908 kostenfrei https://doaj.org/article/dbbc570dc4004022b3741a63fd6b5596 kostenfrei http://dx.doi.org/10.1155/2016/4247908 kostenfrei https://doaj.org/toc/2314-6133 Journal toc kostenfrei https://doaj.org/toc/2314-6141 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2016
spelling	10.1155/2016/4247908 doi (DE-627)DOAJ013079670 (DE-599)DOAJdbbc570dc4004022b3741a63fd6b5596 DE-627 ger DE-627 rakwb eng Paulo Vidal Campregher verfasserin aut A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of NOTCH1. Results. We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of NOTCH1 mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12. NOTCH1 mutations were detected in 43.7% of the patients with trisomy 12. Conclusions. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect NOTCH1 PEST domain insertions and deletions. Medicine R Roberta Cardoso Petroni verfasserin aut Nair Hideko Muto verfasserin aut Roberta Sitnik verfasserin aut Flavia Pereira de Carvalho verfasserin aut Nydia Strachman Bacal verfasserin aut Elvira Deolinda Rodrigues Pereira Velloso verfasserin aut Gislaine Borba Oliveira verfasserin aut João Renato Rebello Pinho verfasserin aut Davi Coe Torres verfasserin aut Marcela Braga Mansur verfasserin aut Rocio Hassan verfasserin aut Irene Gyongyvér Heidemarie Lorand-Metze verfasserin aut Carlos Sérgio Chiattone verfasserin aut Nelson Hamerschlak verfasserin aut Cristovão Luis Pitangueira Mangueira verfasserin aut In BioMed Research International Hindawi Limited, 2013 (2016) (DE-627)734738145 (DE-600)2698540-8 23146141 nnns year:2016 https://doi.org/10.1155/2016/4247908 kostenfrei https://doaj.org/article/dbbc570dc4004022b3741a63fd6b5596 kostenfrei http://dx.doi.org/10.1155/2016/4247908 kostenfrei https://doaj.org/toc/2314-6133 Journal toc kostenfrei https://doaj.org/toc/2314-6141 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2016
allfields_unstemmed	10.1155/2016/4247908 doi (DE-627)DOAJ013079670 (DE-599)DOAJdbbc570dc4004022b3741a63fd6b5596 DE-627 ger DE-627 rakwb eng Paulo Vidal Campregher verfasserin aut A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of NOTCH1. Results. We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of NOTCH1 mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12. NOTCH1 mutations were detected in 43.7% of the patients with trisomy 12. Conclusions. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect NOTCH1 PEST domain insertions and deletions. Medicine R Roberta Cardoso Petroni verfasserin aut Nair Hideko Muto verfasserin aut Roberta Sitnik verfasserin aut Flavia Pereira de Carvalho verfasserin aut Nydia Strachman Bacal verfasserin aut Elvira Deolinda Rodrigues Pereira Velloso verfasserin aut Gislaine Borba Oliveira verfasserin aut João Renato Rebello Pinho verfasserin aut Davi Coe Torres verfasserin aut Marcela Braga Mansur verfasserin aut Rocio Hassan verfasserin aut Irene Gyongyvér Heidemarie Lorand-Metze verfasserin aut Carlos Sérgio Chiattone verfasserin aut Nelson Hamerschlak verfasserin aut Cristovão Luis Pitangueira Mangueira verfasserin aut In BioMed Research International Hindawi Limited, 2013 (2016) (DE-627)734738145 (DE-600)2698540-8 23146141 nnns year:2016 https://doi.org/10.1155/2016/4247908 kostenfrei https://doaj.org/article/dbbc570dc4004022b3741a63fd6b5596 kostenfrei http://dx.doi.org/10.1155/2016/4247908 kostenfrei https://doaj.org/toc/2314-6133 Journal toc kostenfrei https://doaj.org/toc/2314-6141 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2016
allfieldsGer	10.1155/2016/4247908 doi (DE-627)DOAJ013079670 (DE-599)DOAJdbbc570dc4004022b3741a63fd6b5596 DE-627 ger DE-627 rakwb eng Paulo Vidal Campregher verfasserin aut A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of NOTCH1. Results. We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of NOTCH1 mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12. NOTCH1 mutations were detected in 43.7% of the patients with trisomy 12. Conclusions. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect NOTCH1 PEST domain insertions and deletions. Medicine R Roberta Cardoso Petroni verfasserin aut Nair Hideko Muto verfasserin aut Roberta Sitnik verfasserin aut Flavia Pereira de Carvalho verfasserin aut Nydia Strachman Bacal verfasserin aut Elvira Deolinda Rodrigues Pereira Velloso verfasserin aut Gislaine Borba Oliveira verfasserin aut João Renato Rebello Pinho verfasserin aut Davi Coe Torres verfasserin aut Marcela Braga Mansur verfasserin aut Rocio Hassan verfasserin aut Irene Gyongyvér Heidemarie Lorand-Metze verfasserin aut Carlos Sérgio Chiattone verfasserin aut Nelson Hamerschlak verfasserin aut Cristovão Luis Pitangueira Mangueira verfasserin aut In BioMed Research International Hindawi Limited, 2013 (2016) (DE-627)734738145 (DE-600)2698540-8 23146141 nnns year:2016 https://doi.org/10.1155/2016/4247908 kostenfrei https://doaj.org/article/dbbc570dc4004022b3741a63fd6b5596 kostenfrei http://dx.doi.org/10.1155/2016/4247908 kostenfrei https://doaj.org/toc/2314-6133 Journal toc kostenfrei https://doaj.org/toc/2314-6141 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2016
allfieldsSound	10.1155/2016/4247908 doi (DE-627)DOAJ013079670 (DE-599)DOAJdbbc570dc4004022b3741a63fd6b5596 DE-627 ger DE-627 rakwb eng Paulo Vidal Campregher verfasserin aut A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia 2016 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of NOTCH1. Results. We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of NOTCH1 mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12. NOTCH1 mutations were detected in 43.7% of the patients with trisomy 12. Conclusions. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect NOTCH1 PEST domain insertions and deletions. Medicine R Roberta Cardoso Petroni verfasserin aut Nair Hideko Muto verfasserin aut Roberta Sitnik verfasserin aut Flavia Pereira de Carvalho verfasserin aut Nydia Strachman Bacal verfasserin aut Elvira Deolinda Rodrigues Pereira Velloso verfasserin aut Gislaine Borba Oliveira verfasserin aut João Renato Rebello Pinho verfasserin aut Davi Coe Torres verfasserin aut Marcela Braga Mansur verfasserin aut Rocio Hassan verfasserin aut Irene Gyongyvér Heidemarie Lorand-Metze verfasserin aut Carlos Sérgio Chiattone verfasserin aut Nelson Hamerschlak verfasserin aut Cristovão Luis Pitangueira Mangueira verfasserin aut In BioMed Research International Hindawi Limited, 2013 (2016) (DE-627)734738145 (DE-600)2698540-8 23146141 nnns year:2016 https://doi.org/10.1155/2016/4247908 kostenfrei https://doaj.org/article/dbbc570dc4004022b3741a63fd6b5596 kostenfrei http://dx.doi.org/10.1155/2016/4247908 kostenfrei https://doaj.org/toc/2314-6133 Journal toc kostenfrei https://doaj.org/toc/2314-6141 Journal toc kostenfrei GBV_USEFLAG_A SYSFLAG_A GBV_DOAJ SSG-OLC-PHA GBV_ILN_11 GBV_ILN_20 GBV_ILN_22 GBV_ILN_23 GBV_ILN_24 GBV_ILN_31 GBV_ILN_39 GBV_ILN_40 GBV_ILN_60 GBV_ILN_62 GBV_ILN_63 GBV_ILN_65 GBV_ILN_69 GBV_ILN_70 GBV_ILN_73 GBV_ILN_74 GBV_ILN_95 GBV_ILN_105 GBV_ILN_110 GBV_ILN_150 GBV_ILN_151 GBV_ILN_161 GBV_ILN_165 GBV_ILN_170 GBV_ILN_171 GBV_ILN_206 GBV_ILN_213 GBV_ILN_224 GBV_ILN_230 GBV_ILN_285 GBV_ILN_293 GBV_ILN_602 GBV_ILN_636 GBV_ILN_702 GBV_ILN_2001 GBV_ILN_2003 GBV_ILN_2004 GBV_ILN_2005 GBV_ILN_2006 GBV_ILN_2007 GBV_ILN_2008 GBV_ILN_2009 GBV_ILN_2010 GBV_ILN_2011 GBV_ILN_2014 GBV_ILN_2015 GBV_ILN_2020 GBV_ILN_2021 GBV_ILN_2025 GBV_ILN_2026 GBV_ILN_2027 GBV_ILN_2031 GBV_ILN_2034 GBV_ILN_2037 GBV_ILN_2038 GBV_ILN_2044 GBV_ILN_2048 GBV_ILN_2050 GBV_ILN_2055 GBV_ILN_2056 GBV_ILN_2057 GBV_ILN_2059 GBV_ILN_2061 GBV_ILN_2068 GBV_ILN_2088 GBV_ILN_2106 GBV_ILN_2108 GBV_ILN_2111 GBV_ILN_2113 GBV_ILN_2118 GBV_ILN_2122 GBV_ILN_2143 GBV_ILN_2144 GBV_ILN_2147 GBV_ILN_2148 GBV_ILN_2152 GBV_ILN_2153 GBV_ILN_2190 GBV_ILN_2232 GBV_ILN_2336 GBV_ILN_2470 GBV_ILN_2507 GBV_ILN_2522 GBV_ILN_4012 GBV_ILN_4035 GBV_ILN_4037 GBV_ILN_4046 GBV_ILN_4112 GBV_ILN_4125 GBV_ILN_4126 GBV_ILN_4242 GBV_ILN_4246 GBV_ILN_4249 GBV_ILN_4251 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_4326 GBV_ILN_4333 GBV_ILN_4334 GBV_ILN_4335 GBV_ILN_4336 GBV_ILN_4338 GBV_ILN_4367 GBV_ILN_4700 AR 2016
language	English
source	In BioMed Research International (2016) year:2016
sourceStr	In BioMed Research International (2016) year:2016
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Medicine R
isfreeaccess_bool	true
container_title	BioMed Research International
authorswithroles_txt_mv	Paulo Vidal Campregher @@aut@@ Roberta Cardoso Petroni @@aut@@ Nair Hideko Muto @@aut@@ Roberta Sitnik @@aut@@ Flavia Pereira de Carvalho @@aut@@ Nydia Strachman Bacal @@aut@@ Elvira Deolinda Rodrigues Pereira Velloso @@aut@@ Gislaine Borba Oliveira @@aut@@ João Renato Rebello Pinho @@aut@@ Davi Coe Torres @@aut@@ Marcela Braga Mansur @@aut@@ Rocio Hassan @@aut@@ Irene Gyongyvér Heidemarie Lorand-Metze @@aut@@ Carlos Sérgio Chiattone @@aut@@ Nelson Hamerschlak @@aut@@ Cristovão Luis Pitangueira Mangueira @@aut@@
publishDateDaySort_date	2016-01-01T00:00:00Z
hierarchy_top_id	734738145
id	DOAJ013079670
language_de	englisch
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author	Paulo Vidal Campregher
spellingShingle	Paulo Vidal Campregher misc Medicine misc R A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia
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topic_title	A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia
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title	A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia
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title_full	A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia
author_sort	Paulo Vidal Campregher
journal	BioMed Research International
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author_browse	Paulo Vidal Campregher Roberta Cardoso Petroni Nair Hideko Muto Roberta Sitnik Flavia Pereira de Carvalho Nydia Strachman Bacal Elvira Deolinda Rodrigues Pereira Velloso Gislaine Borba Oliveira João Renato Rebello Pinho Davi Coe Torres Marcela Braga Mansur Rocio Hassan Irene Gyongyvér Heidemarie Lorand-Metze Carlos Sérgio Chiattone Nelson Hamerschlak Cristovão Luis Pitangueira Mangueira
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author-letter	Paulo Vidal Campregher
doi_str_mv	10.1155/2016/4247908
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title_sort	novel assay for the identification of notch1 pest domain mutations in chronic lymphocytic leukemia
title_auth	A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia
abstract	Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of NOTCH1. Results. We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of NOTCH1 mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12. NOTCH1 mutations were detected in 43.7% of the patients with trisomy 12. Conclusions. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect NOTCH1 PEST domain insertions and deletions.
abstractGer	Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of NOTCH1. Results. We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of NOTCH1 mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12. NOTCH1 mutations were detected in 43.7% of the patients with trisomy 12. Conclusions. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect NOTCH1 PEST domain insertions and deletions.
abstract_unstemmed	Aims. To develop a fast and robust DNA-based assay to detect insertions and deletions mutations in exon 34 that encodes the PEST domain of NOTCH1 in order to evaluate patients with chronic lymphocytic leukemia (CLL). Methods. We designed a multiplexed allele-specific polymerase chain reaction (PCR) combined with a fragment analysis assay to detect specifically the mutation c.7544_7545delCT and possibly other insertions and deletions in exon 34 of NOTCH1. Results. We evaluated our assay in peripheral blood samples from two cohorts of patients with CLL. The frequency of NOTCH1 mutations was 8.4% in the first cohort of 71 unselected CLL patients. We then evaluated a second cohort of 26 CLL patients with known cytogenetic abnormalities that were enriched for patients with trisomy 12. NOTCH1 mutations were detected in 43.7% of the patients with trisomy 12. Conclusions. We have developed a fast and robust assay combining allele-specific PCR and fragment analysis able to detect NOTCH1 PEST domain insertions and deletions.
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title_short	A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia
url	https://doi.org/10.1155/2016/4247908 https://doaj.org/article/dbbc570dc4004022b3741a63fd6b5596 http://dx.doi.org/10.1155/2016/4247908 https://doaj.org/toc/2314-6133 https://doaj.org/toc/2314-6141
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author2Str	Roberta Cardoso Petroni Nair Hideko Muto Roberta Sitnik Flavia Pereira de Carvalho Nydia Strachman Bacal Elvira Deolinda Rodrigues Pereira Velloso Gislaine Borba Oliveira João Renato Rebello Pinho Davi Coe Torres Marcela Braga Mansur Rocio Hassan Irene Gyongyvér Heidemarie Lorand-Metze Carlos Sérgio Chiattone Nelson Hamerschlak Cristovão Luis Pitangueira Mangueira
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doi_str	10.1155/2016/4247908
up_date	2024-07-03T15:39:50.498Z
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A Novel Assay for the Identification of NOTCH1 PEST Domain Mutations in Chronic Lymphocytic Leukemia

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