Research ExplorerPublicationsDiagnosis of Li-Fraumeni Syndrome

Diagnosis of Li-Fraumeni Syndrome

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Diagnosis of Li-Fraumeni Syndrome : Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. / Weber-Lassalle, Konstantin; Harter, Philipp; Hauke, Jan; Ernst, Corinna; Kommoss, Stefan; Marmé, Frederik; Weber-Lassalle, Nana; Prieske, Katharina; Dietrich, Dimo; Borde, Julika; Pohl-Rescigno, Esther; Reuss, Alexander; Ataseven, Beyhan; Engel, Christoph; Stingl, Julia C; Schmutzler, Rita K; Hahnen, Eric.

In: HUM MUTAT, Vol. 39, No. 12, 12.2018, p. 2040-2046.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Weber-Lassalle, K, Harter, P, Hauke, J, Ernst, C, Kommoss, S, Marmé, F, Weber-Lassalle, N, Prieske, K, Dietrich, D, Borde, J, Pohl-Rescigno, E, Reuss, A, Ataseven, B, Engel, C, Stingl, JC, Schmutzler, RK & Hahnen, E 2018, 'Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial', HUM MUTAT, vol. 39, no. 12, pp. 2040-2046. https://doi.org/10.1002/humu.23653

APA

Weber-Lassalle, K., Harter, P., Hauke, J., Ernst, C., Kommoss, S., Marmé, F., Weber-Lassalle, N., Prieske, K., Dietrich, D., Borde, J., Pohl-Rescigno, E., Reuss, A., Ataseven, B., Engel, C., Stingl, J. C., Schmutzler, R. K., & Hahnen, E. (2018). Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. HUM MUTAT, 39(12), 2040-2046. https://doi.org/10.1002/humu.23653

Vancouver

Weber-Lassalle K, Harter P, Hauke J, Ernst C, Kommoss S, Marmé F et al. Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial. HUM MUTAT. 2018 Dec;39(12):2040-2046. https://doi.org/10.1002/humu.23653

Bibtex

@article{5bdd66da3efb48ab980b0bd27ca5c5d5,
title = "Diagnosis of Li-Fraumeni Syndrome: Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial",
abstract = "The Li-Fraumeni cancer predisposition syndrome (LFS1) presents with a variety of tumor types and the TP53 gene is covered by most diagnostic cancer gene panels. We demonstrate that deleterious TP53 variants identified in blood-derived DNA of 523 patients with ovarian cancer (AGO-TR1 trial) were not causal for the patients' ovarian cancer in three out of six TP53-positive cases. In three out of six patients, deleterious TP53 mutations were identified with low variant fractions in blood-derived DNA but not in the tumor of the patient seeking advice. The analysis of the TP53 and PPM1D genes, both intimately involved in chemotherapy-induced and/or age-related clonal hematopoiesis (CH), in 523 patients and 1,053 age-matched female control individuals revealed that CH represents a frequent event following chemotherapy, affecting 26 of the 523 patients enrolled (5.0%). Considering that TP53 mutations may arise from chemotherapy-induced CH, our findings help to avoid false-positive genetic diagnoses of LFS1.",
keywords = "Adult, Aged, Case-Control Studies, DNA, Neoplasm/blood, Early Detection of Cancer, Female, Genetic Predisposition to Disease, Germ-Line Mutation, Hematopoiesis, Humans, Li-Fraumeni Syndrome/diagnosis, Middle Aged, Tumor Suppressor Protein p53/blood",
author = "Konstantin Weber-Lassalle and Philipp Harter and Jan Hauke and Corinna Ernst and Stefan Kommoss and Frederik Marm{\'e} and Nana Weber-Lassalle and Katharina Prieske and Dimo Dietrich and Julika Borde and Esther Pohl-Rescigno and Alexander Reuss and Beyhan Ataseven and Christoph Engel and Stingl, {Julia C} and Schmutzler, {Rita K} and Eric Hahnen",
note = "{\textcopyright} 2018 Wiley Periodicals, Inc.",
year = "2018",
month = dec,
doi = "10.1002/humu.23653",
language = "English",
volume = "39",
pages = "2040--2046",
journal = "HUM MUTAT",
issn = "1059-7794",
publisher = "Wiley-Liss Inc.",
number = "12",

}

RIS

TY - JOUR

T1 - Diagnosis of Li-Fraumeni Syndrome

T2 - Differentiating TP53 germline mutations from clonal hematopoiesis: Results of the observational AGO-TR1 trial

AU - Weber-Lassalle, Konstantin

AU - Harter, Philipp

AU - Hauke, Jan

AU - Ernst, Corinna

AU - Kommoss, Stefan

AU - Marmé, Frederik

AU - Weber-Lassalle, Nana

AU - Prieske, Katharina

AU - Dietrich, Dimo

AU - Borde, Julika

AU - Pohl-Rescigno, Esther

AU - Reuss, Alexander

AU - Ataseven, Beyhan

AU - Engel, Christoph

AU - Stingl, Julia C

AU - Schmutzler, Rita K

AU - Hahnen, Eric

N1 - © 2018 Wiley Periodicals, Inc.

PY - 2018/12

Y1 - 2018/12

N2 - The Li-Fraumeni cancer predisposition syndrome (LFS1) presents with a variety of tumor types and the TP53 gene is covered by most diagnostic cancer gene panels. We demonstrate that deleterious TP53 variants identified in blood-derived DNA of 523 patients with ovarian cancer (AGO-TR1 trial) were not causal for the patients' ovarian cancer in three out of six TP53-positive cases. In three out of six patients, deleterious TP53 mutations were identified with low variant fractions in blood-derived DNA but not in the tumor of the patient seeking advice. The analysis of the TP53 and PPM1D genes, both intimately involved in chemotherapy-induced and/or age-related clonal hematopoiesis (CH), in 523 patients and 1,053 age-matched female control individuals revealed that CH represents a frequent event following chemotherapy, affecting 26 of the 523 patients enrolled (5.0%). Considering that TP53 mutations may arise from chemotherapy-induced CH, our findings help to avoid false-positive genetic diagnoses of LFS1.

AB - The Li-Fraumeni cancer predisposition syndrome (LFS1) presents with a variety of tumor types and the TP53 gene is covered by most diagnostic cancer gene panels. We demonstrate that deleterious TP53 variants identified in blood-derived DNA of 523 patients with ovarian cancer (AGO-TR1 trial) were not causal for the patients' ovarian cancer in three out of six TP53-positive cases. In three out of six patients, deleterious TP53 mutations were identified with low variant fractions in blood-derived DNA but not in the tumor of the patient seeking advice. The analysis of the TP53 and PPM1D genes, both intimately involved in chemotherapy-induced and/or age-related clonal hematopoiesis (CH), in 523 patients and 1,053 age-matched female control individuals revealed that CH represents a frequent event following chemotherapy, affecting 26 of the 523 patients enrolled (5.0%). Considering that TP53 mutations may arise from chemotherapy-induced CH, our findings help to avoid false-positive genetic diagnoses of LFS1.

KW - Adult

KW - Aged

KW - Case-Control Studies

KW - DNA, Neoplasm/blood

KW - Early Detection of Cancer

KW - Female

KW - Genetic Predisposition to Disease

KW - Germ-Line Mutation

KW - Hematopoiesis

KW - Humans

KW - Li-Fraumeni Syndrome/diagnosis

KW - Middle Aged

KW - Tumor Suppressor Protein p53/blood

U2 - 10.1002/humu.23653

DO - 10.1002/humu.23653

M3 - SCORING: Journal article

C2 - 30216591

VL - 39

SP - 2040

EP - 2046

JO - HUM MUTAT

JF - HUM MUTAT

SN - 1059-7794

IS - 12

ER -