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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. / 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.

In: J HEMATOL ONCOL, Vol. 15, No. 1, 107, 16.08.2022.

Research output: SCORING: Contribution to journal › Letter › Research

Harvard

Penkert, J, Strüwe, FJ, Dutzmann, CM, Doergeloh, BB, Montellier, E, Freycon, C, Keymling, M, Schlemmer, H-P, Sänger, B, Hoffmann, B, Gerasimov, T, Blattmann, C, Fetscher, S, Frühwald, M, Hettmer, S, Kordes, U, Ridola, V, Kroiss Benninger, S, Mastronuzzi, A, Schott, S, Nees, J, Prokop, A, Redlich, A, Seidel, MG, Zimmermann, S, Pajtler, KW, Pfister, SM, Hainaut, P & Kratz, CP 2022, 'Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry', J HEMATOL ONCOL, vol. 15, no. 1, 107. https://doi.org/10.1186/s13045-022-01332-1

APA

Penkert, J., Strüwe, F. J., Dutzmann, C. M., Doergeloh, B. B., Montellier, E., Freycon, C., Keymling, M., Schlemmer, H-P., Sänger, B., Hoffmann, B., Gerasimov, T., Blattmann, C., Fetscher, S., Frühwald, M., Hettmer, S., Kordes, U., Ridola, V., Kroiss Benninger, S., Mastronuzzi, A., ... Kratz, C. P. (2022). Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry. J HEMATOL ONCOL, 15(1), [107]. https://doi.org/10.1186/s13045-022-01332-1

Vancouver

Penkert J, Strüwe FJ, Dutzmann CM, Doergeloh BB, Montellier E, Freycon C et al. Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry. J HEMATOL ONCOL. 2022 Aug 16;15(1). 107. https://doi.org/10.1186/s13045-022-01332-1

Bibtex

@article{7530c0041c7f4d8ebb444bc5e4ac8b77,
title = "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 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.",
keywords = "Adrenal Cortex Neoplasms/genetics, Adrenocortical Carcinoma/genetics, Genetic Association Studies, Genetic Predisposition to Disease, Germ-Line Mutation, Humans, Li-Fraumeni Syndrome/diagnosis, Registries, Tumor Suppressor Protein p53/genetics",
author = "Judith Penkert and Str{\"u}we, {Farina J} and Dutzmann, {Christina M} and Doergeloh, {Beate B} and Emilie Montellier and Claire Freycon and Myriam Keymling and Heinz-Peter Schlemmer and Birte S{\"a}nger and Beatrice Hoffmann and Tanja Gerasimov and Claudia Blattmann and Sebastian Fetscher and Michael Fr{\"u}hwald and Simone Hettmer and Uwe Kordes and Vita Ridola and {Kroiss Benninger}, Sabine and Angela Mastronuzzi and Sarah Schott and Juliane Nees and Aram Prokop and Antje Redlich and Seidel, {Markus G} and Stefanie Zimmermann and Pajtler, {Kristian W} and Pfister, {Stefan M} and Pierre Hainaut and Kratz, {Christian P}",
note = "{\textcopyright} 2022. The Author(s).",
year = "2022",
month = aug,
day = "16",
doi = "10.1186/s13045-022-01332-1",
language = "English",
volume = "15",
journal = "J HEMATOL ONCOL",
issn = "1756-8722",
publisher = "BioMed Central Ltd.",
number = "1",

}

RIS

TY - JOUR

T1 - Genotype-phenotype associations within the Li-Fraumeni spectrum: a report from the German Registry

AU - Penkert, Judith

AU - Strüwe, Farina J

AU - Dutzmann, Christina M

AU - Doergeloh, Beate B

AU - Montellier, Emilie

AU - Freycon, Claire

AU - Keymling, Myriam

AU - Schlemmer, Heinz-Peter

AU - Sänger, Birte

AU - Hoffmann, Beatrice

AU - Gerasimov, Tanja

AU - Blattmann, Claudia

AU - Fetscher, Sebastian

AU - Frühwald, Michael

AU - Hettmer, Simone

AU - Kordes, Uwe

AU - Ridola, Vita

AU - Kroiss Benninger, Sabine

AU - Mastronuzzi, Angela

AU - Schott, Sarah

AU - Nees, Juliane

AU - Prokop, Aram

AU - Redlich, Antje

AU - Seidel, Markus G

AU - Zimmermann, Stefanie

AU - Pajtler, Kristian W

AU - Pfister, Stefan M

AU - Hainaut, Pierre

AU - Kratz, Christian P

N1 - © 2022. The Author(s).

PY - 2022/8/16

Y1 - 2022/8/16

N2 - 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.

AB - 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.

KW - Adrenal Cortex Neoplasms/genetics

KW - Adrenocortical Carcinoma/genetics

KW - Genetic Association Studies

KW - Genetic Predisposition to Disease

KW - Germ-Line Mutation

KW - Humans

KW - Li-Fraumeni Syndrome/diagnosis

KW - Registries

KW - Tumor Suppressor Protein p53/genetics

U2 - 10.1186/s13045-022-01332-1

DO - 10.1186/s13045-022-01332-1

M3 - Letter

C2 - 35974385

VL - 15

JO - J HEMATOL ONCOL

JF - J HEMATOL ONCOL

SN - 1756-8722

IS - 1

M1 - 107

ER -