Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving...
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Autor*in:	Penkert, Judith [verfasserIn] Strüwe, Farina J. Dutzmann, Christina M. Doergeloh, Beate B. Montellier, Emilie Freycon, Claire Keymling, Myriam Schlemmer, Heinz-Peter Sänger, Birte Hoffmann, Beatrice Gerasimov, Tanja Blattmann, Claudia Fetscher, Sebastian Frühwald, Michael Hettmer, Simone Kordes, Uwe Ridola, Vita Kroiss Benninger, Sabine Mastronuzzi, Angela Schott, Sarah Nees, Juliane Prokop, Aram Redlich, Antje Seidel, Markus G. Zimmermann, Stefanie Pajtler, Kristian W. Pfister, Stefan M. Hainaut, Pierre Kratz, Christian P.

Format:	E-Artikel
Sprache:	Englisch

Erschienen:	2022

Schlagwörter:	Li-Fraumeni syndrome Genotype Phenotype Cancer predisposition

Anmerkung:	© The Author(s) 2022

Übergeordnetes Werk:	Enthalten in: Journal of hematology & oncology - London : Biomed Central, 2008, 15(2022), 1 vom: 16. Aug.
Übergeordnetes Werk:	volume:15 ; year:2022 ; number:1 ; day:16 ; month:08

Links:	Volltext

DOI / URN:	10.1186/s13045-022-01332-1

Katalog-ID:	SPR050929399

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allfields	10.1186/s13045-022-01332-1 doi (DE-627)SPR050929399 (SPR)s13045-022-01332-1-e DE-627 ger DE-627 rakwb eng Penkert, Judith verfasserin aut Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype–phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype–phenotype correlations encouraging further analyses. Li-Fraumeni syndrome (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Cancer predisposition (dpeaa)DE-He213 Strüwe, Farina J. aut Dutzmann, Christina M. aut Doergeloh, Beate B. aut Montellier, Emilie aut Freycon, Claire aut Keymling, Myriam aut Schlemmer, Heinz-Peter aut Sänger, Birte aut Hoffmann, Beatrice aut Gerasimov, Tanja aut Blattmann, Claudia aut Fetscher, Sebastian aut Frühwald, Michael aut Hettmer, Simone aut Kordes, Uwe aut Ridola, Vita aut Kroiss Benninger, Sabine aut Mastronuzzi, Angela aut Schott, Sarah aut Nees, Juliane aut Prokop, Aram aut Redlich, Antje aut Seidel, Markus G. aut Zimmermann, Stefanie aut Pajtler, Kristian W. aut Pfister, Stefan M. aut Hainaut, Pierre aut Kratz, Christian P. aut Enthalten in Journal of hematology & oncology London : Biomed Central, 2008 15(2022), 1 vom: 16. Aug. (DE-627)568914813 (DE-600)2429631-4 1756-8722 nnns volume:15 year:2022 number:1 day:16 month:08 https://dx.doi.org/10.1186/s13045-022-01332-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER 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_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_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 15 2022 1 16 08
spelling	10.1186/s13045-022-01332-1 doi (DE-627)SPR050929399 (SPR)s13045-022-01332-1-e DE-627 ger DE-627 rakwb eng Penkert, Judith verfasserin aut Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype–phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype–phenotype correlations encouraging further analyses. Li-Fraumeni syndrome (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Cancer predisposition (dpeaa)DE-He213 Strüwe, Farina J. aut Dutzmann, Christina M. aut Doergeloh, Beate B. aut Montellier, Emilie aut Freycon, Claire aut Keymling, Myriam aut Schlemmer, Heinz-Peter aut Sänger, Birte aut Hoffmann, Beatrice aut Gerasimov, Tanja aut Blattmann, Claudia aut Fetscher, Sebastian aut Frühwald, Michael aut Hettmer, Simone aut Kordes, Uwe aut Ridola, Vita aut Kroiss Benninger, Sabine aut Mastronuzzi, Angela aut Schott, Sarah aut Nees, Juliane aut Prokop, Aram aut Redlich, Antje aut Seidel, Markus G. aut Zimmermann, Stefanie aut Pajtler, Kristian W. aut Pfister, Stefan M. aut Hainaut, Pierre aut Kratz, Christian P. aut Enthalten in Journal of hematology & oncology London : Biomed Central, 2008 15(2022), 1 vom: 16. Aug. (DE-627)568914813 (DE-600)2429631-4 1756-8722 nnns volume:15 year:2022 number:1 day:16 month:08 https://dx.doi.org/10.1186/s13045-022-01332-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER 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_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_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 15 2022 1 16 08
allfields_unstemmed	10.1186/s13045-022-01332-1 doi (DE-627)SPR050929399 (SPR)s13045-022-01332-1-e DE-627 ger DE-627 rakwb eng Penkert, Judith verfasserin aut Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype–phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype–phenotype correlations encouraging further analyses. Li-Fraumeni syndrome (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Cancer predisposition (dpeaa)DE-He213 Strüwe, Farina J. aut Dutzmann, Christina M. aut Doergeloh, Beate B. aut Montellier, Emilie aut Freycon, Claire aut Keymling, Myriam aut Schlemmer, Heinz-Peter aut Sänger, Birte aut Hoffmann, Beatrice aut Gerasimov, Tanja aut Blattmann, Claudia aut Fetscher, Sebastian aut Frühwald, Michael aut Hettmer, Simone aut Kordes, Uwe aut Ridola, Vita aut Kroiss Benninger, Sabine aut Mastronuzzi, Angela aut Schott, Sarah aut Nees, Juliane aut Prokop, Aram aut Redlich, Antje aut Seidel, Markus G. aut Zimmermann, Stefanie aut Pajtler, Kristian W. aut Pfister, Stefan M. aut Hainaut, Pierre aut Kratz, Christian P. aut Enthalten in Journal of hematology & oncology London : Biomed Central, 2008 15(2022), 1 vom: 16. Aug. (DE-627)568914813 (DE-600)2429631-4 1756-8722 nnns volume:15 year:2022 number:1 day:16 month:08 https://dx.doi.org/10.1186/s13045-022-01332-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER 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_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_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 15 2022 1 16 08
allfieldsGer	10.1186/s13045-022-01332-1 doi (DE-627)SPR050929399 (SPR)s13045-022-01332-1-e DE-627 ger DE-627 rakwb eng Penkert, Judith verfasserin aut Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype–phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype–phenotype correlations encouraging further analyses. Li-Fraumeni syndrome (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Cancer predisposition (dpeaa)DE-He213 Strüwe, Farina J. aut Dutzmann, Christina M. aut Doergeloh, Beate B. aut Montellier, Emilie aut Freycon, Claire aut Keymling, Myriam aut Schlemmer, Heinz-Peter aut Sänger, Birte aut Hoffmann, Beatrice aut Gerasimov, Tanja aut Blattmann, Claudia aut Fetscher, Sebastian aut Frühwald, Michael aut Hettmer, Simone aut Kordes, Uwe aut Ridola, Vita aut Kroiss Benninger, Sabine aut Mastronuzzi, Angela aut Schott, Sarah aut Nees, Juliane aut Prokop, Aram aut Redlich, Antje aut Seidel, Markus G. aut Zimmermann, Stefanie aut Pajtler, Kristian W. aut Pfister, Stefan M. aut Hainaut, Pierre aut Kratz, Christian P. aut Enthalten in Journal of hematology & oncology London : Biomed Central, 2008 15(2022), 1 vom: 16. Aug. (DE-627)568914813 (DE-600)2429631-4 1756-8722 nnns volume:15 year:2022 number:1 day:16 month:08 https://dx.doi.org/10.1186/s13045-022-01332-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER 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_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_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 15 2022 1 16 08
allfieldsSound	10.1186/s13045-022-01332-1 doi (DE-627)SPR050929399 (SPR)s13045-022-01332-1-e DE-627 ger DE-627 rakwb eng Penkert, Judith verfasserin aut Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry 2022 Text txt rdacontent Computermedien c rdamedia Online-Ressource cr rdacarrier © The Author(s) 2022 Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype–phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype–phenotype correlations encouraging further analyses. Li-Fraumeni syndrome (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Cancer predisposition (dpeaa)DE-He213 Strüwe, Farina J. aut Dutzmann, Christina M. aut Doergeloh, Beate B. aut Montellier, Emilie aut Freycon, Claire aut Keymling, Myriam aut Schlemmer, Heinz-Peter aut Sänger, Birte aut Hoffmann, Beatrice aut Gerasimov, Tanja aut Blattmann, Claudia aut Fetscher, Sebastian aut Frühwald, Michael aut Hettmer, Simone aut Kordes, Uwe aut Ridola, Vita aut Kroiss Benninger, Sabine aut Mastronuzzi, Angela aut Schott, Sarah aut Nees, Juliane aut Prokop, Aram aut Redlich, Antje aut Seidel, Markus G. aut Zimmermann, Stefanie aut Pajtler, Kristian W. aut Pfister, Stefan M. aut Hainaut, Pierre aut Kratz, Christian P. aut Enthalten in Journal of hematology & oncology London : Biomed Central, 2008 15(2022), 1 vom: 16. Aug. (DE-627)568914813 (DE-600)2429631-4 1756-8722 nnns volume:15 year:2022 number:1 day:16 month:08 https://dx.doi.org/10.1186/s13045-022-01332-1 kostenfrei Volltext GBV_USEFLAG_A SYSFLAG_A GBV_SPRINGER 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_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_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 15 2022 1 16 08
language	English
source	Enthalten in Journal of hematology & oncology 15(2022), 1 vom: 16. Aug. volume:15 year:2022 number:1 day:16 month:08
sourceStr	Enthalten in Journal of hematology & oncology 15(2022), 1 vom: 16. Aug. volume:15 year:2022 number:1 day:16 month:08
format_phy_str_mv	Article
institution	findex.gbv.de
topic_facet	Li-Fraumeni syndrome Genotype Phenotype Cancer predisposition
isfreeaccess_bool	true
container_title	Journal of hematology & oncology
authorswithroles_txt_mv	Penkert, Judith @@aut@@ Strüwe, Farina J. @@aut@@ Dutzmann, Christina M. @@aut@@ Doergeloh, Beate B. @@aut@@ Montellier, Emilie @@aut@@ Freycon, Claire @@aut@@ Keymling, Myriam @@aut@@ Schlemmer, Heinz-Peter @@aut@@ Sänger, Birte @@aut@@ Hoffmann, Beatrice @@aut@@ Gerasimov, Tanja @@aut@@ Blattmann, Claudia @@aut@@ Fetscher, Sebastian @@aut@@ Frühwald, Michael @@aut@@ Hettmer, Simone @@aut@@ Kordes, Uwe @@aut@@ Ridola, Vita @@aut@@ Kroiss Benninger, Sabine @@aut@@ Mastronuzzi, Angela @@aut@@ Schott, Sarah @@aut@@ Nees, Juliane @@aut@@ Prokop, Aram @@aut@@ Redlich, Antje @@aut@@ Seidel, Markus G. @@aut@@ Zimmermann, Stefanie @@aut@@ Pajtler, Kristian W. @@aut@@ Pfister, Stefan M. @@aut@@ Hainaut, Pierre @@aut@@ Kratz, Christian P. @@aut@@
publishDateDaySort_date	2022-08-16T00:00:00Z
hierarchy_top_id	568914813
id	SPR050929399
language_de	englisch
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author	Penkert, Judith
spellingShingle	Penkert, Judith misc Li-Fraumeni syndrome misc Genotype misc Phenotype misc Cancer predisposition Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry
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topic_title	Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry Li-Fraumeni syndrome (dpeaa)DE-He213 Genotype (dpeaa)DE-He213 Phenotype (dpeaa)DE-He213 Cancer predisposition (dpeaa)DE-He213
topic	misc Li-Fraumeni syndrome misc Genotype misc Phenotype misc Cancer predisposition
topic_unstemmed	misc Li-Fraumeni syndrome misc Genotype misc Phenotype misc Cancer predisposition
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title	Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry
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title_full	Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry
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author_browse	Penkert, Judith Strüwe, Farina J. Dutzmann, Christina M. Doergeloh, Beate B. Montellier, Emilie Freycon, Claire Keymling, Myriam Schlemmer, Heinz-Peter Sänger, Birte Hoffmann, Beatrice Gerasimov, Tanja Blattmann, Claudia Fetscher, Sebastian Frühwald, Michael Hettmer, Simone Kordes, Uwe Ridola, Vita Kroiss Benninger, Sabine Mastronuzzi, Angela Schott, Sarah Nees, Juliane Prokop, Aram Redlich, Antje Seidel, Markus G. Zimmermann, Stefanie Pajtler, Kristian W. Pfister, Stefan M. Hainaut, Pierre Kratz, Christian P.
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title_sort	genotype–phenotype associations within the li-fraumeni spectrum: a report from the german registry
title_auth	Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry
abstract	Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype–phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype–phenotype correlations encouraging further analyses. © The Author(s) 2022
abstractGer	Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype–phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype–phenotype correlations encouraging further analyses. © The Author(s) 2022
abstract_unstemmed	Abstract Li-Fraumeni syndrome (LFS) is a cancer predisposition syndrome caused by pathogenic TP53 variants. The condition represents one of the most relevant genetic causes of cancer in children and adults due to its frequency and high cancer risk. The term Li-Fraumeni spectrum reflects the evolving phenotypic variability of the condition. Within this spectrum, patients who meet specific LFS criteria are diagnosed with LFS, while patients who do not meet these criteria are diagnosed with attenuated LFS. To explore genotype–phenotype correlations we analyzed 141 individuals from 94 families with pathogenic TP53 variants registered in the German Cancer Predisposition Syndrome Registry. Twenty-one (22%) families had attenuated LFS and 73 (78%) families met the criteria of LFS. NULL variants occurred in 32 (44%) families with LFS and in two (9.5%) families with attenuated LFS (P value < 0.01). Kato partially functional variants were present in 10 out of 53 (19%) families without childhood cancer except adrenocortical carcinoma (ACC) versus 0 out of 41 families with childhood cancer other than ACC alone (P value < 0.01). Our study suggests genotype–phenotype correlations encouraging further analyses. © The Author(s) 2022
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title_short	Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry
url	https://dx.doi.org/10.1186/s13045-022-01332-1
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author2	Strüwe, Farina J. Dutzmann, Christina M. Doergeloh, Beate B. Montellier, Emilie Freycon, Claire Keymling, Myriam Schlemmer, Heinz-Peter Sänger, Birte Hoffmann, Beatrice Gerasimov, Tanja Blattmann, Claudia Fetscher, Sebastian Frühwald, Michael Hettmer, Simone Kordes, Uwe Ridola, Vita Kroiss Benninger, Sabine Mastronuzzi, Angela Schott, Sarah Nees, Juliane Prokop, Aram Redlich, Antje Seidel, Markus G. Zimmermann, Stefanie Pajtler, Kristian W. Pfister, Stefan M. Hainaut, Pierre Kratz, Christian P.
author2Str	Strüwe, Farina J. Dutzmann, Christina M. Doergeloh, Beate B. Montellier, Emilie Freycon, Claire Keymling, Myriam Schlemmer, Heinz-Peter Sänger, Birte Hoffmann, Beatrice Gerasimov, Tanja Blattmann, Claudia Fetscher, Sebastian Frühwald, Michael Hettmer, Simone Kordes, Uwe Ridola, Vita Kroiss Benninger, Sabine Mastronuzzi, Angela Schott, Sarah Nees, Juliane Prokop, Aram Redlich, Antje Seidel, Markus G. Zimmermann, Stefanie Pajtler, Kristian W. Pfister, Stefan M. Hainaut, Pierre Kratz, Christian P.
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score	7.4015017

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Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

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