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...
Ausführliche Beschreibung
Autor*in: |
Penkert, Judith [verfasserIn] |
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E-Artikel |
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Sprache: |
Englisch |
Erschienen: |
2022 |
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Anmerkung: |
© The Author(s) 2022 |
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Übergeordnetes Werk: |
Enthalten in: Journal of hematology & oncology - London : Biomed Central, 2008, 15(2022), 1 vom: 16. Aug. |
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Übergeordnetes Werk: |
volume:15 ; year:2022 ; number:1 ; day:16 ; month:08 |
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DOI / URN: |
10.1186/s13045-022-01332-1 |
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Katalog-ID: |
SPR050929399 |
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520 | |a 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. | ||
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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 |
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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 |
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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 |
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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 |
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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 |
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Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry |
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Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry |
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Penkert, Judith |
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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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genotype–phenotype associations within the li-fraumeni spectrum: a report from the german registry |
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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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Genotype–phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry |
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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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